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.
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Genetic studies suggest modification of the susceptibility effect of ARMS2 by smoking, consistent with its involvement in mitochondrial function.
“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]
No definitive gene/gene or gene/environment interaction has yet been found for age-related macular degeneration.
“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]
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“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 <i>HTRA1</i> Gene Increases Susceptibility to Age-Related Macular Degeneration
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ResultInfluentialAge-related macular degeneration
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“and increased body mass index, continues to grow( 9-11 ).”
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“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.”
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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 137 · see citing works
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 135 · see citing works
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 · see citing works
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 133 · see citing works
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 · see citing works
The continuum of causality in human genetic disorders
Katsanis, N. (2016) · Genome biology · doi:10.1186/s13059-016-1107-9 · Cited by 128 · see citing works
“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 · see citing works
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 · see citing works
Cheung, C. M. G., & Wong, T. Y. (2014) · Journal of Internal Medicine · doi:10.1111/joim.12227 · Cited by 118 · see citing works
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 113 · see citing works
“…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 115 · see citing works
“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 · see citing works
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 · see citing works
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 · see citing works
“[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 110 · see citing works
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 · see citing works
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 · see citing works
Gorin, M. B. (2012) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.04.004 · Cited by 105 · see citing works
“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 · see citing works
“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 · see citing works
“, 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 · see citing works
“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 · see citing works
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 98 · see citing works
“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 96 · see citing works
“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 · see citing works
“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 95 · see citing works
“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 97 · see citing works
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 · see citing works
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 92 · see citing works
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 · see citing works
“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 · see citing works
“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 83 · see citing works
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 81 · see citing works
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 · see citing works
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 79 · see citing works
Yu, T., Liao, J., Zhang, Y., Zhou, J., Zhang, H., & Mao, M. (2010) · PubMed Central · Cited by 79 · see citing works
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 · see citing works
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 · see citing works
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 74 · see citing works
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 · see citing works
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 · see citing works
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 72 · see citing works
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 · see citing works
Kunchithapautham, K., & Rohrer, B. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.214593 · Cited by 71 · see citing works
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 70 · see citing works
“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 · see citing works
“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 · see citing works
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 70 · see citing works
“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 · see citing works
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 · see citing works
“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 · see citing works
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 · see citing works
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 66 · see citing works
“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 · see citing works
“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 · see citing works
Shuler, R. K. (2007) · Archives of Ophthalmology · doi:10.1001/archopht.125.1.63 · Cited by 64 · see citing works
“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 62 · see citing works
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 · see citing works
“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 64 · see citing works
Jabbehdari, S., & Handa, J. T. (2020) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2020.09.002 · Cited by 60 · see citing works
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 · see citing works
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 58 · see citing works
“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 · see citing works
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 56 · see citing works
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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
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