Association study of single nucleotide polymorphism of rs284489 in the 8q22 region with primary open angle glaucoma in a Sichuan Han Chinese population / 中华实验眼科杂志

ABSTRACT

Objective:To investigate the association between rs284489 in the 8q22 region and primary open angle glaucoma (POAG) in Sichuan, and the association between rs284489 and gender difference.Methods:A case control study was adopted.A total of 894 Han Nationality POAG patients in Sichuan People's Hospital from September 2015 to March 2017 were included, and 994 control patients who participated in physical examination in the same period were included.All subjects had no blood relationship and all were Han Chinese.Each sample of 4 ml-peripheral blood was collected for extracting DNA and rs284489 information was obtained from NCBI website.Primers 5.0 software was used to design primers.Genotyping was performed by using a tailored "Chinese-Chip" for association analysis of the rs284489 in the 8q22 region.Genotype allele frequencies and Hardy-Weinberg equilibrium (HWE) were assessed by using χ2 test.Logistic regression was applied to adjust for gender differences between the cases and controls.The PS; Power and Sample Size Calculation (version 3.1.2) software was used to calculate statistical power.This study followed the Declaration of Helsinki.This study followed the guidelines for the collection of human genetic disease specimens issued by the Ministry of Health of China.The study protocol was approved by the Ethics Committee of Sichuan Provincial People's Hospital (No.2016-58). Results:The allele distribution of rs284489 was within the HWE for both case and control groups (both at P>0.05). The difference of the minor allele-G distribution between the case group and the control group was not significant (allelic P*=0.94, OR [95% CI] **=1.01[0.83-1.23]); To further investigate the association between rs284489 and POAG, four genetic models, including model 1 (AG vs. AA), additive model 2 (GG vs.AA), dominant model (GG+ AG vs.AA), and recessive model (GG vs.AG+ AA) were applied.There was no significant difference in the four genetic models between the case and control groups (adjusted P# additive model 1 =0.26, P# additive model 2 =0.54, P# dominant model =0.50, P# recessive model =0.25); the gender difference in this study was not associated with the polymorphism of rs284489 (adjusted P#=1.00, crude OR [95% CI]=1.00[0.88-1.14], adjusted OR [95% CI]=1.00 [0.87-1.14]). Conclusions:rs284489 is not statistically associated with POAG in a Sichuan Han Chinese population.