Association analysis of seven single nucleotide polymorphisms identified by genome-wide association study with age-related macular degeneration among ethnic Han Chinese population.
10.3760/cma.j.cn511374-20210421-00269
- Author:
Guo HUANG
1
;
Huan LI
;
Jialing XIAO
;
Liang WANG
;
Huijuan XU
;
Chuntao LEI
;
Man YU
;
Ping SHUAI
;
Yuping LIU
;
Bo GONG
;
Zhenglin YANG
Author Information
1. Human Disease Genes Key Laboratory of Sichuan Province, Department of Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China. yangzhenglin@cashq.ac.cn.
- Publication Type:Journal Article
- MeSH:
Case-Control Studies;
Gene Frequency;
Genetic Predisposition to Disease;
Genome-Wide Association Study;
Genotype;
High-Temperature Requirement A Serine Peptidase 1/genetics*;
Humans;
Macular Degeneration/genetics*;
Polymorphism, Single Nucleotide
- From:
Chinese Journal of Medical Genetics
2022;39(9):963-968
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the association of 7 single nucleotide polymorphisms (SNPs) including rs13278062 (TNFRSF10A), rs3750846 (ARMS2-HTRA1), rs429358 (APOE), rs5817082 (CEPT), rs2043085 (LIPC), rs1626340 (TGFBR1), and rs8135665 (SLC16A8) identified through genome-wide association study (GWAS) with age-related macular degeneration (AMD) among ethnic Han Chinese from Sichuan, China.
METHODS:A cohort of 576 AMD patients and 572 healthy controls were enrolled in a case-control study. The SNPs were genotyped by a Mass array MALDI-TOF System. On the premise that the genotype distribution of each SNP locus in both groups satisfied Hardy-Weinberg equilibrium, the genetic pattern was analyzed and the scores of allele and genotype frequencies ware compared.
RESULTS:There was a significant association between TNFRSF10A rs13278062 and AMD under the heterozygous model (P = 0.000, OR = 1.529, 95%CI = 1.196-1.954) and the dominant model (P = 0.002, OR = 1.459, 95%CI = 1.154-1.865), suggesting that subjects carrying rs13278062GT and rs13278062TT + GT are more likely to develop the AMD, whereas no significant difference was observed for rs13278062 under other models. No association was detected with the other six SNPs and AMD under various genetic models.
CONCLUSION:This case-control association study has indicated that TNFRSF10A rs13278062 is associated with AMD under the heterozygous and dominant models, suggesting that the TNFRSF10A variant may be involved in the development of AMD among ethnic Han Chinese population.
