Evaluating correlation between the ocular biometry and genetic variants of MYOC and ABCA1 with primary angleclosure glaucoma in a cohort from northern China

• 作者: Hao Chi Jian-Qing Ma Juan Hao Man-Yun Xu Shao-Lin Wang Shao-Ping Ha Shun-Yu Piao Wen Zhang Wen-Juan Zhuang Zhong-Qi Xue
• 来源期刊: 国际眼科杂志:英文版
• 学科: 医学
• 关键词: MYOC ABCA1 PRIMARY ANGLE-CLOSURE GLAUCOMA anterior chamber depth axial length single NUCLEOTIDE polymorphisms
• 年，卷（期）: 2019,（8）
• 页码范围: 1317-1322
• 页数: 6页
• 分类号: R775

摘要

AIM: To investigate whether the gene variants in MYOC and ABCA1 are associated with primary angle-closure glaucoma(PACG) and anterior chamber depth(ACD) and axial length(AL) in samples from northern China. METHODS: The present case-control association study consisted of 500 PACG patients and 720 unrelated controls. Each participant was genotyped for eleven single nucleotide polymorphisms(SNPs) in MYOC and ABCA1 genes(rs12076134, rs183532, rs235875 and rs235913 in MYOC, rs2422493, rs2487042, rs2472496, rs2472493, rs2487032, rs2472459 and rs2472519 near ABCA1) using an improved multiplex ligation detection reaction(iMLDR) technique. The genetic association analyses were performed by PLINK using a logistic regression model. The association between genotypes and ocular biometric parameters was performed by SPSS using generalized estimation equation. Bonferroni corrections wereimplemented and the statistical power was calculated by the Power and Sample Size Calculation. RESULTS: Two SNPs rs183532 and rs235875 as well as a haplotype TTC in MYOC were nominally associated with PACG despite the significance was lost after Bonferroni correction. No association was observed between ABCA1 and PACG, neither did the association between these variants and ACD as well as AL. CONCLUSION: The present study suggests MYOC and ABCA1 do not play a part in the pathogenesis of PACG as well as the regulation of ocular biometric parameters in a northern Chinese population. Further investigations with large sample size are needed to verify this consequence.