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Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration

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Schmidt, Silke, Hauser, Michael A., Scott, William K., Postel, Eric A., Agarwal, Anita, Gallins, Paul, Wong, Frank, Chen, Yu Sarah, Spencer, Kylee, Schnetz-Boutaud, Nathalie, Haines, Jonathan L., Pericak-Vance, Margaret A.·2006·The American Journal of Human Genetics

DOI 10.1086/503822

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Abstract

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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Background
Analysis of Genetic and Environmental Risk Factors and Their Interactions in Korean Patients with Age-Related Macular Degeneration
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“[1,3,4] Moreover it has been shown that cigarette smoking interacts with variants in ARMS2 to amplify the risk of AMD in Caucasians.[5] Polypoidal choroidal vasculopathy (PCV), which is characterized by inner choroidal vascular network of vessels ending in aneurysmal bulge or outward projection, demonstrates similar c…”
BackgroundResultInfluential
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“cigarette smoke [76], and epidemiological studies have linked”
Background
ROLE OF GENETIC FACTORS AND INFLAMMATION IN AGE-RELATED MACULAR DEGENERATION
Moshfeghi, D. M., & Blumenkranz, M. S. (2007) · Retina · doi:10.1097/iae.0b013e31802e3e9b · Cited by 53
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“Y402H or A69S risk variants in CFH and ARMS2, respectively, loci that account for the majority of the genetic risk of AMD in populations of European descent.(7) The absence of these risk alleles in affected members lead us to hypothesize that other rare variants of large effect may be contributing to AMD in this famil…”
BackgroundSelf-citation
PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.
Leveziel, N., Souied, E. H., Richard, F., Barbu, V., Zourdani, A., Morineau, G., Zerbib, J., COSCAS, G. J., Soubrane, G., & Benlian, P. (2007) · PubMed · Cited by 49
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“Smoking is also a major risk factor for AMD and, in contrast to CD, an interaction with the LOC387715 locus exists, with risks for smokers who also carry the high risk genotypes much higher than predicated by marginal risks conferred by smoking and LOC387715 [38].”
Background
Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.
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“, 2005), and we also reported synergistic interaction between cigarette smoking and genotypic variants in ARMS2 (Schmidt et al., 2006).”
BackgroundSelf-citation
Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population
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“An additional major locus at chromosome 10q26 has been shown in multiple independent studies to confer risk independent of the risk conferred by CFH (Fisher et al., 2005; Jakobsdottir et al., 2005; Maller et al., 2006; Rivera et al., 2005; Schmidt et al., 2006).”
Background
Curcumin analog 1, 5-bis (2-trifluoromethylphenyl)-1, 4-pentadien-3-one exhibits enhanced ability on Nrf2 activation and protection against acrolein-induced ARPE-19 cell toxicity
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“Genetic variants at another chromosomal locus, 10q26, also confer strong disease risk, including age-related maculopathy susceptibility 2 (also known as LOC387715) [11–15] and high-temperature requirement factor A1 (HTRA1) [16, 17] genes.”
Background
Using Genetic Variation and Environmental Risk Factor Data to Identify Individuals at High Risk for Age-Related Macular Degeneration
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“To maintain comparability with the other modeling strategies used, we included age of exam (in quantiles), smoking, and CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G as inputs for the neural networks.”
BackgroundInfluentialSelf-citation
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Edwards, D. R. V., Gallins, P. J., Polk, M., Ayala-Haedo, J., Schwartz, S. G., Kovach, J. L., Spencer, K., Wang, G., Agarwal, A., Postel, E. A., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4000 · Cited by 42
Self-citation
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“The risk of AMD was strongly modified in subjects harboring the A69S SNP along with a history of smoking (Schmidt et al. 2006).”
Background
Mechanistic Insight into Age-Related Macular Degeneration (AMD): Anatomy, Epidemiology, Genetics, Pathogenesis, Prevention, Implications, and Treatment Strategies to Pace AMD Management
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“The rs10490924 mutation in the HTRA1 promoter region could magnify the AMD risk 15-fold.(42,43) HTRA1 transgenic mice exhibited Bruch membrane and choroid challenge, as well as CNV and PCV pathology.”
Background
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“The G3C single-nucleotide polymorphism (SNP) (rs10490924), encoding a nonsynonymous A69S mutation in ARMS2 has been reproducibly verified as a strong genetic risk factor for AMD.(29,32,35,37) Recently, the deletion allele of an insertion/deletion (indel) variant in the 3 UTR region of the ARMS2 gene has also been foun…”
Background
Asian Age-Related Macular Degeneration
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“This finding has also fully been replicated [Schmidt et al., 2006; Maller et al., 2006; Conley et al., 2006], although there is some debate about the true functional variant in this region [Dewan et al., 2006; Yang et al., 2006].”
Result
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Brión, M., Sánchez‐Salorio, M., Cortón, M., de la Fuente, M., Pazos, B., Othman, M., Swaroop, A., Abecasis, G. R., Sobrino, B., & Carracedo, Á. (2010) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.2010.02040.x · Cited by 36
“Variants in this region have been consistently reproducible across multiple ethnic groups (Jakobsdottir et al. 2005; Rivera et al. 2005; Dewan et al. 2006; Schmidt et al. 2006; Tanimoto et al. 2007; Weger et al. 2007).”
Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration
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Munch, I. C., Sander, B., Kessel, L., Hougaard, J. L., Taarnhøj, N. C. B. B., Sørensen, T. I. A., Kyvik, K. O., & Larsen, M. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0529 · Cited by 36
“Recent studies have implicated genes of the complement system in the pathogenesis of AMD, along with a gene of unknown function.(35,36) Our study showed that having more than 20 drusen per eye in young adulthood is highly hereditary.”
Background
HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population
Lü, F., Hu, J., Zhao, P., Lin, Y., Yang, Y., Liu, X., Fan, Y.-C., Chen, B., Liao, S., Du, Q., et al. (2007) · Vision Research · doi:10.1016/j.visres.2007.08.010 · Cited by 35
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Shuler, R. K., Schmidt, S., Gallins, P. J., Hauser, M. A., Scott, W. K., Caldwell, J., Agarwal, A., Haines, J. L., Pericak‐Vance, M. A., & Postel, E. A. (2007) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2007.09.027 · Cited by 34
Self-citation
Susceptibility Genes and Progression in Age-Related Maculopathy: A Study of Single Eyes
Farwick, A., Wellmann, J., Stoll, M., Pauleikhoff, D., & Hense, H. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-3953 · Cited by 34
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Genotypic Influences on Severity of Exudative Age-Related Macular Degeneration
Leveziel, N., Puche, N., Richard, F., Somner, J., Zerbib, J., Bastuji‐Garin, S., Cohen, S. Y., Korobelnik, J., Sahel, J., Soubrane, G., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4423 · Cited by 33
“The genotypic selection was based on two genetic factors that could explain up to 60% of AMD cases, with population-attributable risks for CFH Y402H ranging from 43% to 68% and from 36% to 57% for ARMS2/LOC387715 A69S.(36,37) When considering the entire initial cohort, the allelic frequencies of CFH and ARMS2/LOC38771…”
BackgroundInfluential
Two genetic pathways for age-related macular degeneration
DeWan, A. T., Bracken, M. B., & Hoh, J. J. (2007) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2007.04.004 · Cited by 33
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“This was a greater issue in terms of our ability to detect an interaction with cigarette smoking, which is less common in our cohorts of health professionals than in some other studies.(43,44) Cigarette smoking and obesity are known to promote inflammatory activity,(45) and previous studies have suggested that, in suc…”
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ANALYSES OF SINGLE NUCLEOTIDE POLYMORPHISMS AND HAPLOTYPE LINKAGE OF LOC387715 AND THE HTRA1 GENE IN EXUDATIVE AGE-RELATED MACULAR DEGENERATION IN A CHINESE COHORT
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CFH Y402H and ARMS2 A69S Polymorphisms and Oral Supplementation with Docosahexaenoic Acid in Neovascular Age-Related Macular Degeneration Patients: The NAT2 Study
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Age-related changes in regulator of G-protein signaling (RGS)-10 expression in peripheral and central immune cells may influence the risk for age-related degeneration
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Analysis of Single Nucleotide Polymorphisms in the NOS2A Gene and Interaction with Smoking in Age‐Related Macular Degeneration
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Age-Related Macular Degeneration and Association of CFH Y402H and LOC387715 A69S Polymorphisms in a Turkish Population
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MITOCHONDRIAL VARIATION AND THE RISK OF AGE-RELATED MACULAR DEGENERATION ACROSS DIVERSE POPULATIONS
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CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients
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“Two studies suggest that the third gene in this region, PLEKHA1, is not responsible for the risk of macular degeneration attributable to this locus.(20,23)”
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“…2, previously known as hypothetical LOC387715) and rs11200638 in the promoter region of HTRA1 (High-temperature requirement protein A1) (Jakobsdottir et al., 2005; Rivera et al., 2005; Schmidt et al., 2006; Yang et al., 2006; Dewan et al., 2006; Kanda et al., 2007; Fritsche et al., 2008).”
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Polymorphisms in the LOC387715/ARMS2 Putative Gene and the Risk for Alzheimer’s Disease
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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: Schmidt, Silke
Hauser, Michael A.
Scott, William K.
Postel, Eric A.
Agarwal, Anita
Gallins, Paul
Haines, Jonathan L.
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)
DOI: 10.1086/503822
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2636 d)
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

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Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration

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