DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Exfoliation syndrome. The EFO term exfoliation syndrome was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: exfoliation syndrome

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

T Aung, M Ozaki, T Mizoguchi, RR Allingham, Z Li, A Haripriya, S Nakano, S Uebe, JM Harder, AS Chan, MC Lee, KP Burdon, YS Astakhov, KK Abu-Amero, JC Zenteno, Y Nilgün, T Zarnowski, M Pakravan, LA Safieh, L Jia, YX Wang, S Williams, D Paoli, PG Schlottmann, L Huang, KS Sim, JN Foo, M Nakano, Y Ikeda, RS Kumar, M Ueno, S Manabe, K Hayashi, S Kazama, R Ideta, Y Mori, K Miyata, K Sugiyama, T Higashide, E Chihara, K Inoue, S Ishiko, A Yoshida, M Yanagi, Y Kiuchi, M Aihara, T Ohashi, T Sakurai, T Sugimoto, H Chuman, F Matsuda, K Yamashiro, N Gotoh, M Miyake, SY Astakhov, EA Osman, SA Al-Obeidan, O Owaidhah, L Al-Jasim, S Al Shahwan, RA Fogarty, P Leo, Y Yetkin, Ç Oğuz, MR Kanavi, AN Beni, S Yazdani, EL Akopov, KY Toh, GR Howell, AC Orr, Y Goh, WY Meah, SQ Peh, E Kosior-Jarecka, U Lukasik, M Krumbiegel, EN Vithana, TY Wong, Y Liu, AE Koch, P Challa, RM Rautenbach, DA Mackey, AW Hewitt, P Mitchell, JJ Wang, A Ziskind, T Carmichael, R Ramakrishnan, K Narendran, R Venkatesh, S Vijayan, P Zhao, X Chen, D Guadarrama-Vallejo, CY Cheng, SA Perera, R Husain, SL Ho, UC Welge-Luessen, C Mardin, U Schloetzer-Schrehardt, AM Hillmer, S Herms, S Moebus, MM Nöthen, N Weisschuh, R Shetty, A Ghosh, YY Teo, MA Brown, I Lischinsky, JG Crowston, M Coote, B Zhao, J Sang, N Zhang, Q You, V Vysochinskaya, P Founti, A Chatzikyriakidou, A Lambropoulos, E Anastasopoulos, AL Coleman, MR Wilson, DJ Rhee, JH Kang, I May-Bolchakova, S Heegaard, K Mori, WL Alward, JB Jonas, L Xu, JM Liebmann, B Chowbay, E Schaeffeler, M Schwab, F Lerner, N Wang, Z Yang, P Frezzotti, S Kinoshita, JH Fingert, M Inatani, K Tashiro, A Reis, DP Edward, LR Pasquale, T Kubota, JL Wiggs, F Pasutto, F Topouzis, M Dubina, JE Craig, N Yoshimura, P Sundaresan, SW John, R Ritch, MA Hauser, CC Khor

TITLE:

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

JOURNAL:

Nature genetics Apr 2015, Vol 47, pp. 387-92

ABSTRACT:

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease. PUBMED: 25706626
Find other GeneSets from this publication