Expressive

rs10490924 - HTRA1-AS1, ARMS2

Magnitude 4.5 · 8 studies on file

Reported associations

  • Identification of Genetic Variants for Risk Prediction and Early Diagnosis of Age-Related Macular Degeneration in the Taiwanese Population. - International journal of molecular sciences (2024) · Huang YC, Liao WL, Lin HJ, Huang YT, Chang YW, Liu TY, Chen YC, Weng AL, Tsai FJ · PubMed 38542204

    Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly worldwide. The prevalence and phenotypes of AMD differ among populations, including between people in Taiwan and other regions. We performed a genome-wide association study to identify genetic variants and to develop genetic models to predict the risk of AMD development and progression in the Taiwanese population. In total, 4039 patients with AMD and 16,488 non-AMD controls (aged ≥ 65 years) were included. We identified 31 AMD-associated variants ( < 5 × 10 ) on chromosome 10q26, surrounding . Two genetic models were constructed using the clump and threshold method. Model 1 included the single nucleotide polymorphism rs11200630 and showed a 1.31-fold increase in the risk of AMD per risk allele (95% c

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. - Science (New York, N.Y.) (2024) · Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F, Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP · PubMed 39024449

    One of the justifiable criticisms of human genetic studies is the underrepresentation of participants from diverse populations. Lack of inclusion must be addressed at-scale to identify causal disease factors and understand the genetic causes of health disparities. We present genome-wide associations for 2068 traits from 635,969 participants in the Department of Veterans Affairs Million Veteran Program, a longitudinal study of diverse United States Veterans. Systematic analysis revealed 13,672 genomic risk loci; 1608 were only significant after including non-European populations. Fine-mapping identified causal variants at 6318 signals across 613 traits. One-third ( = 2069) were identified in participants from non-European populations. This reveals a broadly similar genetic architecture acro

  • Genome-wide association study and identification of systemic comorbidities in development of age-related macular degeneration in a hospital-based cohort of Han Chinese. - Frontiers in genetics (2023) · Shih CH, Chuang HK, Hsiao TH, Yang YP, Gao CE, Chiou SH, Hsu CC, Hwang DK · PubMed 36911400

    Age-related macular degeneration (AMD) is the main cause of severe vision loss in elderly populations of the developed world with limited therapeutic medications available. It is a multifactorial disease with a strong genetic susceptibility which exhibits the differential genetic landscapes among different ethnic groups. To investigate the Han Chinese-specific genetic variants for AMD development and progression, we have presented a genome-wide association study (GWAS) on 339 AMD cases and 3,390 controls of a Han Chinese population recruited from the Taiwan Precision Medicine Initiative (TPMI). In this study, we have identified several single nucleotide polymorphisms (SNPs) significantly associated with AMD, including rs10490924, rs3750848, and rs3750846 in the ARMS2 gene, and rs3793917, r

  • Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes. - Nature communications (2023) · Fan Q, Li H, Wang X, Tham YC, Teo KYC, Yasuda M, Lim WK, Kwan YP, Teo JX, Chen CJ, Chen LJ, Ahn J, Davila S, Miyake M, Tan P, Park KH, Pang CP, Khor CC, Wong TY, Yanagi Y, Cheung CMG, Cheng CY · PubMed 37696869

    Neovascular age-related macular degeneration (nAMD), along with its clinical subtype known as polypoidal choroidal vasculopathy (PCV), are among the leading causes of vision loss in elderly Asians. In a genome-wide association study (GWAS) comprising 3,128 nAMD (1,555 PCV and 1,573 typical nAMD), and 5,493 controls of East Asian ancestry, we identify twelve loci, of which four are novel ([Formula: see text]). Substantial genetic sharing between PCV and typical nAMD is noted (r = 0.666), whereas collagen extracellular matrix and fibrosis-related pathways are more pronounced for PCV. Whole-exome sequencing in 259 PCV patients revealed functional rare variants burden in collagen type I alpha 1 chain gene (COL1A1; [Formula: see text]) and potential enrichment of functional rare mutations at A

  • Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia. - Human molecular genetics (2022) · Guggenheim JA, Clark R, Cui J, Terry L, Patasova K, Haarman AEG, Musolf AM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE, Hysi PG, Williams C · PubMed 35022715

    Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40-69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability >0.5. Of the 19 putative causal var

  • Genome-wide association study of neovascular age-related macular degeneration in the Thai population. - Journal of human genetics (2018) · Ruamviboonsuk P, Tadarati M, Singhanetr P, Wattanapokayakit S, Kunhapan P, Wanitchanon T, Wichukchinda N, Mushiroda T, Akiyama M, Momozawa Y, Kubo M, Mahasirimongkol S · PubMed 28703135

    We performed a genome-wide association study on 377 cases of neovascular age-related macular degeneration (AMD) and 1074 controls to determine the association of previously reported genetic variants associated with neovascular AMD in the Thai population. All patients were of Thai ancestry. We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10 ), HTRA1 rs11200638 (P=5.47 × 10 ) and complement factor H gene (CFH) rs800292 (P=2.53 × 10 ) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10 ). We also found association of the previously reported CFH rs10737680 (P=1.76 × 10 ) locus in the discovery sample. Two loci not previously reported to be associated with neovascular AMD were selected for replication

  • New loci and coding variants confer risk for age-related macular degeneration in East Asians. - Nature communications (2016) · Cheng CY, Yamashiro K, Chen LJ, Ahn J, Huang L, Huang L, Cheung CM, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TY, Tam PO, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Ong PG, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park KH, Pang CP, Yoshimura N, Wong TY, Khor CC · PubMed 25629512

    Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10(-22)). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l(-1) (P=5.82 × 10(-21)) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (

  • Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. - Annals of human genetics (2013) · Naj AC, Scott WK, Courtenay MD, Cade WH, Schwartz SG, Kovach JL, Agarwal A, Wang G, Haines JL, Pericak-Vance MA · PubMed 23577725

    Relatively little is known about the interaction between genes and environment in the complex etiology of age-related macular degeneration (AMD). This study aimed to identify novel factors associated with AMD by analyzing gene-smoking interactions in a genome-wide association study of 1207 AMD cases and 686 controls of Caucasian background with genotype data on 668,238 single nucleotide polymorphisms (SNPs) after quality control. Participants' history of smoking at least 100 cigarettes lifetime was determined by a self-administered questionnaire. SNP associations modeled the effect of the minor allele additively on AMD using logistic regression, with adjustment for age, sex, and ever/never smoking. Joint effects of SNPs and smoking were examined comparing a null model containing only age,

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