Back to Search
Start Over
Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese.
- Source :
-
Experimental eye research [Exp Eye Res] 2019 Mar; Vol. 180, pp. 129-136. Date of Electronic Publication: 2018 Dec 23. - Publication Year :
- 2019
-
Abstract
- The purpose of the study was to evaluate the association profiles of the SIX6 locus with primary open-angle glaucoma (POAG) in southern Chinese and Japanese. In this study, we tested single marker and haplotype-based associations of 11 tagging single nucleotide polymorphisms (SNPs) covering the SIX6 locus with POAG in a Hong Kong Chinese cohort (N = 1402). A novel SNP (i.e., rs12436579) and two SNPs (i.e., rs33912345 and rs10483727) from previous genome-wide association studies were further tested in a Chinese cohort from Shantou (N = 888) and a Japanese cohort from Osaka (N = 463). Results from the three cohorts were meta-analysed using a random-effect model. We found rs12436579, which has not been previously reported, was associated with POAG in Hong Kong and Shantou Chinese (P <subscript>combined</subscript> = 4.3 × 10 <superscript>-5</superscript> , OR = 0.72, I <superscript>2</superscript> = 0). Additionally, we replicated the association of one known SNP, rs33912345 (P <subscript>combined</subscript> = 0.0061, OR = 0.69, I <superscript>2</superscript> = 45%), with POAG in the Chinese cohorts but not in the Japanese cohort (P > 0.6). Another known SNP, rs10483727, was nominally associated with POAG in the two Chinese cohorts (P <subscript>combined</subscript> = 0.017, OR = 0.70, I <superscript>2</superscript> = 53%). All these three SNPs were significantly associated with POAG when the three cohorts were combined in meta-analysis (P <subscript>combined</subscript> <0.005). Furthermore, two haplotypes, C-C (P <subscript>combined</subscript> = 1.13 × 10 <superscript>-5</superscript> , OR = 1.41, I <superscript>2</superscript> = 0) and A-A (P <subscript>combined</subscript> = 0.045, OR = 0.68, I <superscript>2</superscript> = 70%), defined by rs33912345-rs12436579 were associated with POAG in Chinese but not in Japanese. In conclusion, this study confirmed the association between two GWAS SNPs in SIX6 (rs33912345 and rs10483727) and POAG. Also, a SNP, rs12436579, not associated with POAG before, was found to be associated with POAG in Chinese. Further studies are warranted to elucidate the role of this novel SNP in POAG.<br /> (Copyright © 2018 Elsevier Ltd. All rights reserved.)
- Subjects :
- Aged
China epidemiology
Cohort Studies
Female
Genome-Wide Association Study
Genotyping Techniques
Glaucoma, Open-Angle diagnosis
Haplotypes
Humans
Japan epidemiology
Male
Middle Aged
Asian People genetics
Genetic Predisposition to Disease
Glaucoma, Open-Angle genetics
Homeodomain Proteins genetics
Polymorphism, Single Nucleotide
Trans-Activators genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-0007
- Volume :
- 180
- Database :
- MEDLINE
- Journal :
- Experimental eye research
- Publication Type :
- Academic Journal
- Accession number :
- 30586556
- Full Text :
- https://doi.org/10.1016/j.exer.2018.12.014