The DOI matches its Crossref record; 46 of the 48 references it cites were found in a registry or an index.
Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration
Open accessAbstract
We used iterative association mapping to identify a susceptibility gene for age-related macular degeneration (AMD) on chromosome 10q26, which is one of the most consistently implicated linkage regions for this disorder. We employed linkage analysis methods, followed by family-based and case-control association analyses, using two independent data sets. To identify statistically the most likely AMD-susceptibility allele, we used the Genotype-IBD Sharing Test (GIST) and conditional haplotype analysis. To incorporate the two most important known AMD risk factors--smoking and the Y402H variant of the complement factor H gene (CFH)--we used logistic regression modeling to test for gene-gene and gene-environment interactions in the case-control data set and used the ordered-subset analysis to account for genetic linkage heterogeneity in the family-based data set. Our results strongly implicate a coding change (Ala69Ser) in the LOC387715 gene as the second major identified AMD-susceptibility allele, confirming earlier suggestions. This variant's effect on AMD is statistically independent of CFH and is of similar magnitude to the effect of Y402H. The overall effect is driven primarily by a strong association in smokers, since we observed significant evidence for a statistical interaction between the LOC387715 variant and a history of cigarette smoking. This gene-environment interaction is supported by statistically independent family-based and case-control analysis methods. We estimate that CFH, LOC387715, and cigarette smoking together explain 61% of the population-attributable risk (PAR) of AMD. The adjusted PAR percentage estimates are 20% for smoking, 36% for LOC387715, and 43% for CFH. We demonstrate, for the first time, that a genetic susceptibility coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of AMD than either factor alone.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Genetic studies also suggest modification of the susceptibility effect of ARMS2 by smoking (128), consistent with its involvement in mitochondrial function (66, 82).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [128]
In the citing paper
“A few studies have assessed gene/gene interaction as well as gene/environment interaction.73–75 No definitive interaction has yet been found.”
From Age-related macular degeneration (2008) · cites this paper as [74]
Citations
Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,551
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323
Complement factor H polymorphism and age-related macular degeneration
Edwards, A. O., Ritter, R., Abel, K. J., Manning, A., Panhuysen, C., & Farrer, L. A. (2005) · Science · doi:10.1126/science.1110189 · Cited by 2,449
Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424
Self-citationHageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501536102 · Cited by 1,961
Bird, A. C., Bressler, N. M., Bressler, S. B., Chisholm, I. H., Coscas, G., Davis, M. D., de Jong, P. T. V. M., Klaver, C. C. W., Klein, B. E. K., Klein, R., et al. (1995) · Survey of Ophthalmology · doi:10.1016/s0039-6257(05)80092-x · Cited by 1,926
Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900
Flagged first, then by citations
2 of the 48 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Age-related macular degeneration
Jager, R. D., Mieler, W. F., & Miller, J. W. (2008) · New England Journal of Medicine · doi:10.1056/nejmra0801537 · Cited by 1,379
The impact of oxidative stress and inflammation on RPE degeneration in non-neovascular AMD
Datta, S., Cano, M., Ebrahimi, K. B., Wang, L., & Handa, J. T. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.03.002 · Cited by 843
“Likewise, the LOC387715 locus polymorphism that is associated with AMD risk is higher in smokers than either smoking or the polymorphism alone, is additional evidence of a pathogenic role of oxidative stress (Schmidt et al., 2006).”
BackgroundA Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
Yang, Z., Camp, N. J., Sun, H., Tong, Z., Gibbs, D., Cameron, D. J., Chen, H., Zhao, Y., Pearson, E., Li, X., et al. (2006) · Science · doi:10.1126/science.1133811 · Cited by 796
Age-related macular degeneration
de Jong, P. T. V. M. (2006) · New England Journal of Medicine · doi:10.1056/nejmra062326 · Cited by 787
Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts
Gehrs, K. M., Anderson, D. H., Johnson, L. V., & Hageman, G. S. (2006) · Annals of Medicine · doi:10.1080/07853890600946724 · Cited by 650
“In addition, a significant statistical relationship between the LOC387715 variant and a history of cigarette smoking has been found (232).”
BackgroundMolecular pathology of age-related macular degeneration
Ding, X., Patel, M., & Chan, C.-C. (2009) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.10.001 · Cited by 582
“[PubMed: 17909628] Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, Ferrell RE, Gorin MB. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.”
ResultInfluentialAge-related macular degeneration
Coleman, H. R., Chan, C.-C., Ferris, F. L., & Chew, E. Y. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61759-6 · Cited by 542
Kanda, A., Chen, W., Othman, M., Branham, K. E. H., Brooks, M., Khanna, R., He, S., Lyons, R., Abecasis, G. R., & Swaroop, A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703933104 · Cited by 441
Deng, Y., Qiao, L., Du, M., Qu, C., Wan, L., Li, J., & Huang, L. (2022) · Genes & Diseases · doi:10.1016/j.gendis.2021.02.009 · Cited by 411
“Rs10490924 in HTRA1 promoter region can increase the risk of AMD 15 times.(49,50,52) HTRA1 transgenic mice showed BrM and choroid damage, with some pathological features of CNV and PCV.”
BackgroundLi, M., Atmaca-Sonmez, P., Othman, M., Branham, K. E. H., Khanna, R., Wade, M. S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A., et al. (2006) · Nature Genetics · doi:10.1038/ng1871 · Cited by 354
Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
Seddon, J. M., Francis, P. J., George, S., Schultz, D. W., Rosner, B., & Klein, M. L. (2007) · JAMA · doi:10.1001/jama.297.16.1793 · Cited by 330
Age‐related Macular Degeneration (AMD)
(2008) · Springer eBooks · doi:10.1007/978-3-540-38918-7_5059 · Cited by 322
The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date
Haddad, S., Chen, C. A., Santangelo, S. L., & Seddon, J. M. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.05.001 · Cited by 299
Handa, J. T., Rickman, C. B., Dick, A. D., Gorin, M. B., Miller, J. W., Toth, C. A., Ueffing, M., Zarbin, M. A., & Farrer, L. A. (2019) · Nature Communications · doi:10.1038/s41467-019-11262-1 · Cited by 285
Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270
“Genetic studies also suggest modification of the susceptibility effect of ARMS2 by smoking (128), consistent with its involvement in mitochondrial function (66, 82).”
Cigarette Smoking and Age-Related Macular Degeneration in the EUREYE Study
Chakravarthy, U., Augood, C., Bentham, G. C., de Jong, P. T. V. M., Rahu, M., Seland, J., Soubrane, G., Tomazzoli, L., Topouzis, F., Vingerling, J. R., et al. (2007) · Ophthalmology · doi:10.1016/j.ophtha.2006.09.022 · Cited by 230
Macular degeneration: recent advances and therapeutic opportunities
Rattner, A., & Nathans, J. (2006) · Nature reviews. Neuroscience · doi:10.1038/nrn2007 · Cited by 233
Whitmore, S. S., Sohn, E. H., Chirco, K. R., Drack, A. V., Stone, E. M., Tucker, B. A., & Mullins, R. F. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.11.005 · Cited by 223
“genotype leading to increased AMD risk (Schmidt et al., 2006).”
Brantley, M. A., Fang, A. M., King, J. M., Tewari, A., Kymes, S. M., & Shiels, A. (2007) · Ophthalmology · doi:10.1016/j.ophtha.2007.09.008 · Cited by 201
Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration
Skerka, C., Lauer, N., Weinberger, A. A. W. A., Keilhauer, C. N., Sühnel, J., Smith, R., Schlötzer–Schrehardt, U., Fritsche, L., Heinen, S., & Hartmann, A. (2007) · Molecular Immunology · doi:10.1016/j.molimm.2007.02.012 · Cited by 197
Schaumberg, D. A. (2007) · Archives of Ophthalmology · doi:10.1001/archopht.125.1.55 · Cited by 192
“These data are supported by the recent findings of stronger effects of CFH Y402H(30) and LOC387715 A69S among smokers.(25) Despite no significant overall effect of aspirin on the risk of AMD, these data suggest that regular aspirin use may reduce the risk conferred by homozygosity for LOC387715 A69S.”
ResultSpencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P. J., Agarwal, A., Postel, E. A., Pericak‐Vance, M. A., & Haines, J. L. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm146 · Cited by 193
“and increased body mass index, continues to grow( 9-11 ).”
BackgroundSelf-citationCano, M., Thimmalappula, R., Fujihara, M., Nagai, N., Sporn, M. B., Wang, A. L., Neufeld, A. H., Biswal, S. S., & Handa, J. T. (2009) · Vision Research · doi:10.1016/j.visres.2009.08.018 · Cited by 188
Mitochondrial Dysfunction in Retinal Diseases
Barot, M., Gokulgandhi, M. R., & Mitra, A. K. (2011) · Current Eye Research · doi:10.3109/02713683.2011.607536 · Cited by 189
“[51] Schmidt S, Hauser MA, Scott WK et al.”
BackgroundOxidation and age-related macular degeneration: insights from molecular biology
Khandhadia, S., & Lotery, A. J. (2010) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239941000164x · Cited by 183
Seddon, J. M., George, S., Rosner, B., & Klein, M. L. (2006) · Human Heredity · doi:10.1159/000094141 · Cited by 176
Jirarattanasopa, P., Ooto, S., Nakata, I., Tsujikawa, A., Yamashiro, K., Oishi, A., & Yoshimura, N. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-9619 · Cited by 175
“244 CFH I62V AA GA GG A G AA GA GG A G 5 (16) 11 (35) 15 (48) 21 (34) 41 (66) 4 (7) 18 (33) 32 (59) 26 (24) 82 (76) 0.”
Swaroop, A., Branham, K. E., Chen, W., & Abecasis, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm212 · Cited by 173
“62 ,10(2100) (85,88,97,98,117,124,125) C2 rs9332739 (C/G) 4 4184 G 0.”
How does the macula protect itself from oxidative stress?
Handa, J. T. (2012) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.03.006 · Cited by 154
“The susceptibility locus in or near the hypothetical LOC387715 gene (Jakobsdottir et al., 2005; Rivera et al., 2005) is associated with smoking, and the combination of the LOC387715 polymorphism and smoking confers a higher risk for AMD than either factor alone (Schmidt et al., 2006).”
BackgroundConley, Y. P., Jakobsdottir, J., Mah, T., Weeks, D. E., Klein, R., Kuller, L., Ferrell, R. E., & Gorin, M. B. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl396 · Cited by 157
An update on the genetics of age-related macular degeneration
Scholl, H. P. N., Fleckenstein, M., Issa, P. C., Keilhauer, C. N., Holz, F. G., & Weber, B. H. F. (2007) · PubMed Central · doi:10.5283/epub.35844 · Cited by 156
Fujihara, M., Nagai, N., Sussan, T. E., Biswal, S. S., & Handa, J. T. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003119 · Cited by 150
“Interestingly, this locus may be associated with smoking, and the combination of the LOC387715 polymorphism and smoking confers a higher risk for AMD than either factor alone [7].”
BackgroundSmailhodzic, D., Klaver, C. C. W., Klevering, B. J., Boon, C. J. F., Groenewoud, J. M. M., Kirchhof, B., Daha, M. R., den Hollander, A. I., & Hoyng, C. B. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2011.07.056 · Cited by 153
Age-related Macular Degeneration: Genetic and Environmental Factors of Disease
Chen, Y., Bedell, M., & Zhang, K. (2010) · Molecular Interventions · doi:10.1124/mi.10.5.4 · Cited by 143
Self-citationPATHWAY-BASED THERAPIES FOR AGE-RELATED MACULAR DEGENERATION
Zarbin, M. A., & Rosenfeld, P. J. (2010) · Retina · doi:10.1097/iae.0b013e3181f57e30 · Cited by 141
Colquitt, J. L., Jones, J., Tan, S., Takeda, A., Clegg, A. P., & Price, A. (2008) · Health Technology Assessment · doi:10.3310/hta12160 · Cited by 141
CURRENT KNOWLEDGE AND TRENDS IN AGE-RELATED MACULAR DEGENERATION
Vélez-Montoya, R., Oliver, S. C. N., Olson, J. L., Fine, S. L., Quiroz-Mercado, H., & Mandava, N. (2013) · Retina · doi:10.1097/iae.0000000000000036 · Cited by 141
Mechanism of Inflammation in Age-Related Macular Degeneration
Parmeggiani, F., Romano, M., Costagliola, C., Semeraro, F., Incorvaia, C., D’Angelo, S., Perri, P., Palma, P. D., Nadai, K. D., & Sebastiani, A. (2012) · Mediators of Inflammation · doi:10.1155/2012/546786 · Cited by 140
Lee, A. Y., Raya, A. K., Kymes, S. M., Shiels, A., & Brantley, M. A. (2009) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.150995 · Cited by 134
Age-related macular degeneration: diagnosis and management
Cook, H., Patel, P. J., & Tufail, A. (2008) · British Medical Bulletin · doi:10.1093/bmb/ldn012 · Cited by 136
Prevalence and Genomic Association of Reticular Pseudodrusen in Age-Related Macular Degeneration
Ueda‐Arakawa, N., Ooto, S., Nakata, I., Yamashiro, K., Tsujikawa, A., Oishi, A., & Yoshimura, N. (2012) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2012.08.011 · Cited by 130
The continuum of causality in human genetic disorders
Katsanis, N. (2016) · Genome biology · doi:10.1186/s13059-016-1107-9 · Cited by 126
“In age-related macular degeneration, for example, the susceptibility of individuals who carry a combination of risk genotypes and smoke is sufficiently high to be clinically meaningful and behaviorally actionable [51], whereas for other disorders, such as type 2 diabetes, a scale and a tape measure remain more effecti…”
BackgroundHayashi, H., Yamashiro, K., Gotoh, N., Nakanishi, H., Nakata, I., Tsujikawa, A., Otani, A., Saito, M., Iida, T., Matsuo, K., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5554 · Cited by 122
Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe
Colijn, J. M., Meester‐Smoor, M. A., Verzijden, T., de Breuk, A., da Silva, R. M., Merle, B. M. J., Cougnard‐Grégoire, A., Hoyng, C. B., Fauser, S., Coolen, A. C. C., et al. (2020) · Ophthalmology · doi:10.1016/j.ophtha.2020.11.024 · Cited by 121
Cheung, C. M. G., & Wong, T. Y. (2014) · Journal of Internal Medicine · doi:10.1111/joim.12227 · Cited by 122
Lee, J., McCoy, M. K., Harms, A. S., Ruhn, K. A., Gold, S. J., & Tansey, M. G. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.1806-08.2008 · Cited by 114
“…age-related maculopathy, a photoreceptor degenerative disease associated with microgliosis, map to the same region of human chromosome 10q26 as the RGS10 gene (Jakobsdottir et al., 2005; Schmidt et al., 2006), suggesting that loss of RGS10 may predispose an organism to neurodegenerative disease.”
BackgroundGenetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration
Yang, Z., Tong, Z., Chen, Y., Zeng, J., Lü, F., Sun, X., Zhao, C., Wang, K., Davey, L. M., Chen, H., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000836 · Cited by 118
“However, in contrast to the other confirmed AMD susceptibility loci CFH (NM_000186) [2–8], C2/BF (NM_000063/NM_001710) and C3 (NM_000064) [9–11], which encompass a single gene; a region on 10q26 that contains three genes has been associated consistently with AMD susceptibility [12–15].”
BackgroundResultSelf-citationDeAngelis, M. M., Ji, F., Adams, S., Morrison, M. A., Harring, A. J., Sweeney, M. O., Capone, A., Miller, J. W., Dryja, T. P., Ott, J., et al. (2008) · Ophthalmology · doi:10.1016/j.ophtha.2007.10.032 · Cited by 104
Association of complement factor H polymorphisms with exudative age-related macular degeneration.
Chen, L. J., Liu, D. T. L., Tam, P. O. S., Chan, W. M., Liu, K., Chong, K. K. L., Lam, D. S. C., & Pang, C. P. (2006) · PubMed · Cited by 111
Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002091 · Cited by 110
“[4] Recent genetic research has focused primarily on the nuclear genome and resulted in significant new associations, such as those in the Complement Factor H gene (CFH) on Chromosome 1 and the HTRA1/ LOC387715 gene complex on Chromosome 10, with the AMD phenotype.[5,6] However, variation in the mitochondrial genome m…”
BackgroundSelf-citationNeovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking
Hughes, A. E., Orr, N., Patterson, C. C., Esfandiary, H., Hogg, R. E., McConnell, V. P. M., Silvestri, G., & Chakravarthy, U. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040355 · Cited by 112
Review of Genetics in Age Related Macular Degeneration
Montezuma, S. R., Sobrin, L., & Seddon, J. M. (2007) · Seminars in Ophthalmology · doi:10.1080/08820530701745140 · Cited by 108
Lee, K. Y., Vithana, E. N., Mathur, R., Yong, V. H. K., Yeo, I. Y. S., Thalamuthu, A., Lee, M., Koh, A. H. C., Lim, M. C. C., How, A. C. S., et al. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0860 · Cited by 108
Gorin, M. B. (2012) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.04.004 · Cited by 105
“There are reports of interactions of smoking with genetic loci in AMD risk (Ayala-Haedo et al., 2010; DeAngelis et al., 2007; Nakanishi et al., 2010; Schmidt et al., 2006) and the potential for Vitamin D metabolism genes to modify risk (Morrison et al.”
BackgroundDeletion of CFHR3 and CFHR1 genes in age-related macular degeneration
Spencer, K. L., Hauser, M. A., Olson, L. M., Schmidt, S., Scott, W. K., Gallins, P., Agarwal, A., Postel, E. A., Pericak-Vance, M. A., & Haines, J. L. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddm369 · Cited by 102
“Taking into account known environmental/lifestyle risk factors for AMD has aided the search for pre-disposing genetic variants, as was the case when cigarette smoking was suggested to act synergistically with the LOC387715 variant to further increase susceptibility (6,7), though this was not confirmed by all studies (…”
BackgroundSelf-citationMolecular genetics of AMD and current animal models
Edwards, A. O., & Malek, G. (2007) · Angiogenesis · doi:10.1007/s10456-007-9064-2 · Cited by 98
“, that LOC387715 mediated much of the effect of smoking in increasing the risk of AMD [32].”
BackgroundWang, A. L., Lukas, T. J., Yuan, M., Du, N. Y., Handa, J. T., & Neufeld, A. H. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005304 · Cited by 98
“Interestingly, this locus may be associated with smoking in that the combination of the LOC387715 polymorphism and smoking confers a higher risk for AMD than either factor alone [10].”
BackgroundHTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration.
Yoshida, T., DeWan, A. T., Zhang, H., Sakamoto, R., Okamoto, H., MINAMI, M., Obazawa, M., Mizota, A., Tanaka, M., Saito, Y., et al. (2007) · PubMed Central · Cited by 99
C2 and CFB Genes in Age-Related Maculopathy and Joint Action with CFH and LOC387715 Genes
Jakobsdóttir, J., Conley, Y. P., Weeks, D. E., Ferrell, R. E., & Gorin, M. B. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002199 · Cited by 99
“This includes mostly samples of white European [11–21] and white European American [22–37] descent, but also samples of Hispanic origin [38] and samples from Russia [39], India [40], China [41,42] and Japan [43–45].”
BackgroundThe molecular genetic basis of age-related macular degeneration: an overview
Katta, S., Kaur, I., & Chakrabarti, S. (2009) · Journal of Genetics · doi:10.1007/s12041-009-0064-4 · Cited by 97
“The interaction between smoking (number of pack years) and genotypes at rs10490924 (A69S) revealed that the relative frequency of the risk genotype ‘TT’ linearly increased with increasing pack-years of smoking irrespective of age and gender (P = 0.05) (Schmidt et al. 2006).”
BackgroundInfluentialLocalization of Age-Related Macular Degeneration-Associated ARMS2 in Cytosol, Not Mitochondria
Wang, G., Spencer, K. L., Court, B. L., Olson, L. M., Scott, W. K., Haines, J. L., & Pericak‐Vance, M. A. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-3240 · Cited by 96
“Studies, including ours, have demonstrated a statistical interaction between smoking and 10q26 genes, especially ARMS2, in the association with AMD, suggesting ARMS2 as the most likely candidate for the second major AMD susceptibility gene.(6,19,20) Recently, Kanda et al.”
BackgroundResultSelf-citationCigarette Smoking and the Natural History of Age-Related Macular Degeneration
Myers, C. E., Klein, R., Gangnon, R. E., Sivakumaran, T. A., Iyengar, S. K., & Klein, R. (2014) · Ophthalmology · doi:10.1016/j.ophtha.2014.04.040 · Cited by 101
“Although the HRs did not reach statistical significance, their direction indicates that current smoking may also put an individual at increased risk of developing early and late AMD.”
ResultInfluentialSmoking and the Risk of Age-related Macular Degeneration: A Meta-Analysis
Cong, R., Zhou, B., Sun, Q., Gu, H., Tang, N., & Wang, B. (2008) · Annals of Epidemiology · doi:10.1016/j.annepidem.2008.04.002 · Cited by 101
Genetics of age-related macular degeneration: current concepts, future directions
DeAngelis, M. M., Silveira, A. C., Carr, E. A., & Kim, I. K. (2011) · Seminars in Ophthalmology · doi:10.3109/08820538.2011.577129 · Cited by 94
A particle swarm based hybrid system for imbalanced medical data sampling
Yang, P., Xu, L., Zhou, B. B., Zhang, Z., & Zomaya, A. Y. (2009) · BMC Genomics · doi:10.1186/1471-2164-10-s3-s34 · Cited by 90
Francis, P. J., George, S., Schultz, D. W., Rosner, B., Hamon, S., Ott, J., Weleber, R. G., Klein, M. L., & Seddon, J. M. (2007) · Human Heredity · doi:10.1159/000100046 · Cited by 91
“genes with advanced AMD susceptibility have now been replicated in a number of independent studies [”
BackgroundHTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH
Tam, P. O. S., Ng, T. K., Liu, D. T. L., Chan, W. M., Chiang, S. W. Y., Chen, L. J., DeWan, A. T., Hoh, J. J., Lam, D. S. C., & Pang, C. P. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1520 · Cited by 84
“Numerous studies had reported smoking to be associated with the risk of advanced AMD independently, with no interaction with the other susceptibility genes studied: LOC387715, APOE, and CFH.41–44 Only one recent study reported smoking as a modifier of LOC387715.”
BackgroundProgression of Geographic Atrophy and Genotype in Age-Related Macular Degeneration
Klein, M. L., Ferris, F. L., Francis, P. J., Lindblad, A. S., Chew, E. Y., Hamon, S., & Ott, J. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.12.012 · Cited by 84
The Role of Complement Factor H in Age-related Macular Degeneration: A Review
Donoso, L. A., Vrabec, T. R., & Kuivaniemi, H. (2010) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2009.11.001 · Cited by 84
Genetics of Immunological and Inflammatory Components in Age-related Macular Degeneration
Tuo, J., Grob, S., Zhang, K., & Chan, C. (2012) · Ocular Immunology and Inflammation · doi:10.3109/09273948.2011.628432 · Cited by 80
Wang, J. J., Rochtchina, E., Smith, W. T., Klein, R., Klein, B. E. K., Joshi, T., Sivakumaran, T. A., Iyengar, S. K., & Mitchell, P. B. (2008) · American Journal of Epidemiology · doi:10.1093/aje/kwn358 · Cited by 80
Yu, T., Liao, J., Zhang, Y., Zhou, J., Zhang, H., & Mao, M. (2010) · PubMed Central · Cited by 79
Ross, R. J., Bojanowski, C. M., Wang, J. J., Chew, E. Y., Rochtchina, E., Ferris, F. L., Mitchell, P., Chan, C.-C., & Tuo, J. (2007) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.06-0999 · Cited by 75
Xu, Y.-L., Guan, N., Xu, J., Yang, X., Ma, K., Zhou, H., Zhang, F., Snellingen, T., Jiao, Y., Liu, X., et al. (2008) · Europe PMC (PubMed Central) · Cited by 75
Francis, P. J., Schultz, D. W., Hamon, S., Ott, J., Weleber, R. G., & Klein, M. L. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001197 · Cited by 76
Kim, N. R., Kang, J., Kwon, O. W., Lee, S. J., Oh, J. H., & Chin, H. S. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1195 · Cited by 73
Wang, J. J., Buitendijk, G. H. S., Rochtchina, E., Lee, K. E., Klein, R., van Duijn, C. M., Flood, V. M., Meuer, S. M., Attia, J., Myers, C. E., et al. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2013.10.017 · Cited by 72
Age-Related Macular Degeneration: Insights into Inflammatory Genes
Cascella, R., Ragazzo, M., Strafella, C., Missiroli, F., Borgiani, P., Angelucci, F., Marsella, L., Cusumano, A., Novelli, G., Ricci, F., et al. (2014) · Journal of Ophthalmology · doi:10.1155/2014/582842 · Cited by 74
Differential DNA methylation identified in the blood and retina of AMD patients
Oliver, V. F., Jaffe, A. E., Song, J., Wang, G., Zhang, P., Branham, K. E. H., Swaroop, A., Eberhart, C. G., Zack, D. J., Qian, J. X., et al. (2015) · Epigenetics · doi:10.1080/15592294.2015.1060388 · Cited by 72
Kunchithapautham, K., & Rohrer, B. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.214593 · Cited by 71
Marangoni, D., Falsini, B., Piccardi, M., Ambrosio, L., Minnella, A. M., Savastano, M. C., Bisti, S., Maccarone, R., Fadda, A., Mello, E., et al. (2013) · Journal of Translational Medicine · doi:10.1186/1479-5876-11-228 · Cited by 71
“Its involvement in mitochondrial function [27] and the correlation between ARMS2 polymorphisms and smoking [28,29] suggest that the gene product is implicated in oxidative stress defence.”
BackgroundCritical Role of Regulator G-Protein Signaling 10 (RGS10) in Modulating Macrophage M1/M2 Activation
Lee, J., Chung, J., Kannarkat, G. T., & Tansey, M. G. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081785 · Cited by 71
“In humans, susceptibility genes for age-related maculopathy (ARM), a photoreceptor degenerative disease associated with microgliosis, map to the same region of human chromosome 10q26 as the RGS10 gene [28,29], suggesting that loss of RGS10 may predispose an organism to neurodegenerative disease.”
BackgroundMori, K., Gehlbach, P. L., Kabasawa, S., Kawasaki, I., Oosaki, M., Iizuka, H., Katayama, S., Awata, T., & Yoneya, S. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0426 · Cited by 70
Progress in defining the molecular biology of age related macular degeneration
Lotery, A. J., & Trump, D. (2007) · Human Genetics · doi:10.1007/s00439-007-0406-3 · Cited by 71
“Estimations of the risk of developing AMD by age 95 are 48.3% for homozygotes, 42.6% for heterozygotes, and 21.9% for noncarriers (Despriet et al. 2006) and the population attributable risk for late AMD is estimated between 24 (Schmidt et al. 2006) and 54% (Despriet et al. 2006).”
BackgroundInfluentialThe LOC387715 Polymorphism, Inflammatory Markers, Smoking, and Age-Related Macular Degeneration
Wang, J. J., Ross, R. J., Tuo, J., Burlutsky, G., Tan, A. G., Chan, C.-C., Favaloro, E. J., Williams, A., & Mitchell, P. (2008) · Ophthalmology · doi:10.1016/j.ophtha.2007.05.038 · Cited by 69
Kaur, I., Katta, S., Hussain, A., Hussain, N., Mathai, A., Narayanan, R., Hussain, A., Reddy, R. K., Majji, A. B., Das, T., et al. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0560 · Cited by 68
“It has also been shown that the presence of the rs10490924 SNP, along with an associated history of smoking, strongly modifies the risk of AMD.21 The combined effect of the rs10490924 SNP and smoking significantly enhanced the risk of AMD in some populations,20,21,26 but this finding could not be replicated in a large…”
BackgroundInfluentialNakayama, M., Iejima, D., Akahori, M., Kamei, J., Goto, A., & Iwata, T. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14453 · Cited by 69
Genetic Determinants of Age-Related Macular Degeneration in Diverse Populations From the PAGE Study
Restrepo, N. A., Spencer, K. L., Goodloe, R., Garrett, T. A., HEISS, G. M., kova, P. B., Jorgensen, N. W., Jensen, R. A., Matise, T. C., Hindorff, L. A., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14246 · Cited by 66
Self-citationKalariya, N. M., Wills, N. K., Ramana, K. V., Sk, S., & van Kuijk, F. J. G. M. (2009) · Experimental Eye Research · doi:10.1016/j.exer.2009.05.011 · Cited by 67
“Furthermore, genetic studies have also identified susceptibility locus, i.e. LOC387715, for AMD and that polymorphism of this locus and smoking could confer a higher risk for AMD than either factor alone (Rivera et al., 2005; Fritsche et al., 2008; Schmidt et al., 2006).”
BackgroundSeitsonen, S., Onkamo, P., Peng, G., Xiong, M., Tommila, P. V., Ranta, P., Holopainen, J. M., Moilanen, J., Palosaari, T., Kaarniranta, K., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003833 · Cited by 66
“have reported a statistical interaction between LOC387715 and smoking [21] and most recently, an interaction between HTRA1 rs11200638 and smoking was reported [34].”
BackgroundMethodResultInfluentialFrancis, P. J., Zhang, H., DeWan, A. T., Hoh, J. J., & Klein, M. L. (2008) · PubMed Central · Cited by 65
Shuler, R. K. (2007) · Archives of Ophthalmology · doi:10.1001/archopht.125.1.63 · Cited by 64
“The measurement of the proportion of smokers in each group was constructed as a binary “ever or never” variable based on a participant’s response to the question, “Have you smoked at least 100 cigarettes in your lifetime?”(11) Additional smoking history information, including regular cigarette smoking, was assessed as…”
BackgroundMethodResultInfluentialAge-related macular degeneration: a perspective on genetic studies
Patel, N., Adewoyin, T., & Chong, V. N. (2007) · Eye · doi:10.1038/sj.eye.6702844 · Cited by 64
Mori, K., Horie‐Inoue, K., Kohda, M., Kawasaki, I., Gehlbach, P. L., Awata, T., Yoneya, S., Okazaki, Y., & Inoue, S. (2007) · Journal of Human Genetics · doi:10.1007/s10038-007-0162-1 · Cited by 63
“Several studies have reported a second major susceptibility genetic locus at chromosome 10q26 for AMD, contributing independently of CFH to disease (Jakobsdottir et al. 2005; Rivera et al. 2005; Schmidt et al. 2006).”
BackgroundKawashima, Y., Oishi, A., Tsujikawa, A., Yamashiro, K., Miyake, M., Ueda‐Arakawa, N., Yoshikawa, M., Takahashi, A., & Yoshimura, N. (2014) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-014-2838-5 · Cited by 66
Jabbehdari, S., & Handa, J. T. (2020) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2020.09.002 · Cited by 61
Human HtrA1 in the archived eyes with age-related macular degeneration.
Chan, C., Shen, D., Zhou, M., Ross, R. J., Ding, X., Zhang, K., Green, W. R., & Tuo, J. (2007) · Europe PMC (PubMed Central) · Cited by 59
Risk Alleles in CFH and ARMS2 and the Long-term Natural History of Age-Related Macular Degeneration
Klein, R., Myers, C. E., Meuer, S. M., Gangnon, R. E., Sivakumaran, T. A., Iyengar, S. K., Lee, K. E., & Klein, B. E. K. (2012) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2013.713 · Cited by 59
“F OLLOWING THE OBSERVAtions of the associations of specific single-nucleotide polymorphisms (SNPs) in the complement factor H region (CFH, rs1061170) and in the age-related maculopathy susceptibility 2 region (ARMS2, rs10490924) with late agerelated macular degeneration (AMD), there has been a growing number of studie…”
Tsuchihashi, T., Mori, K., Horie‐Inoue, K., Gehlbach, P. L., Kabasawa, S., Takita, H., Ueyama, K., Okazaki, Y., Inoue, S., Awata, T., et al. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2010.04.007 · Cited by 57
Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
Thompson, C. L., Klein, R., Klein, R., Xu, Z., Capriotti, J., Joshi, T., Leontiev, D. V., Lee, K. E., Elston, R. C., & Iyengar, S. K. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm164 · Cited by 57
Metadata
- Authors
- Schmidt, S., Hauser, M. A., Scott, W. K., Postel, E. A., Agarwal, A., Gallins, P., Wong, F., Chen, Y. S., Spencer, K., Schnetz-Boutaud, N., Haines, J. L., & Pericak-Vance, M. A.
- Affiliations
- Duke Medical Center (US)
- Vanderbilt University Medical Center (US)
- Corresponding author
- Schmidt, Silke
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-05
- Volume
- 78
- Issue
- 5
- Pages
- 852-864
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2131861979
- Cited by
- 335
- References
- 48
- Citations by year
- 2025: 2 · 2023: 3 · 2022: 5 · 2021: 6 · 2020: 7 · 2019: 2 · 2018: 7 · 2017: 4 · 2016: 8 · 2015: 13 · 2014: 27 · 2013: 28 · 2012: 30
- FWCI
- 41.58
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- National Institute on Aging (AG-11268, P60AG011268)
- National Eye Institute (R03EY015216, R01EY012118, EY015216, U10EY012118, EY12118)
- National Center for Research Resources (M01RR000095, RR00095)
- NIH Clinical Center
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Keywords
- age-related macular degeneration, LOC387715, cigarette smoking, gene-environment interaction, chromosome 10q26, complement factor H, genetic susceptibility, population attributable risk
- MeSH terms
- Aged, Aged, 80 and over, Chromosomes, Human, Pair 10, Female, Gene Frequency, Haplotypes, Homozygote, Humans, Genetic Linkage, Macular Degeneration, Male, Middle Aged, Proteins, Smoking, Genetic Variation, Case-Control Studies, Complement Factor H, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
