rs10880855 - ARID2

Magnitude 2.0 · 4 studies on file

Reported associations

• GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology - Nature communications (2025) · Luben RN, Biradar MI, Stuart KV, Hu R, Sun Z, Li Z, Wang N, Do T, Pang CP, Nakano M, Tashiro K, Ikeda Y, Tokuda Y, Tanaka M, Omi N, Ueno M, Sotozono C, Kinoshita S, Mori K, Kitnarong N, Fea A, Melo MB, Vasconcellos JPC, Costa VP, Nongpiur ME, Ho CL, Perera SA, Craig JE, Kolovos A, Liza-Sharmini AT, Leuenberger EU, Park KH, Vijaya L, George R, Aung T, Khor CC, Foster PJ, Hysi P, Khawaja AP · PubMed 41238566

  ABSTRACT: GWAS of primary angle-closure glaucoma have identified eight loci conferring risk in Asian populations. However, it remains unclear whether the genetic risk factors for the disease are consistent across different populations. Here, we present a discovery GWAS for primary angle-closure glaucoma in Europeans using the UK Biobank. We replicate our findings in six independent European populations and compare these results with results from 14 Asian cohorts. Five genomic regions in the discovery cohort are associated at genome-wide significance, including two loci previously identified in Asian cohorts. We next meta-analyse the discovery and replication cohorts to identify six additional novel loci, all previously associated with refractive error. Mendelian randomisation provides evid

• A cross-population atlas of genetic associations for 220 human phenotypes. - Nature genetics (2021) · Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y · PubMed 34594039

  Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) in BioBank Japan (n = 179,000), by incorporating past medical history and text-mining of electronic medical records. Meta-analyses with the UK Biobank and FinnGen (n = 628,000) identified ~5,000 new loci, which improved the resolution of the genomic map of human traits. This atlas elucidated the landscape of pleiotropy as represented by the major histocompatibility complex locus, where we conducted HLA fine-mapping. Finally, we performed statistical decomposition of matrices of phenome-wid

• Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error - Nature genetics (2019) · Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW · PubMed 29808027

  ABSTRACT: Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants, increased the established independent signals from 37 to 161 and revealed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and functional contributions to refractive error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes elicited novel mechanisms such as rod and cone bipolar synaptic neurot

• Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error - Nature communications (2016) · Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T, Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM · PubMed 27020472

  ABSTRACT: Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whe

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