| Author |
Shi, Yi Zhou, Yu Liu, Xiaoqi Yang, Zhenglin Zhang, Kaijiong Shuai, Ping Li, Yuanfeng Ye, Zimeng Lin, Ying Luo, Qian Luo, Huaichao Yang, Jiyun Tan, Chang Chen, Yuhong Sun, Xinghuai Gong, Bo |
| Description |
Author Affiliation: Luo H ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 2Chengdu Institute of B.); Chen Y ( Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.); Ye Z ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Sun X ( Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.); Shi Y ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Luo Q ( Department of Ophthalmology, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.); Gong B ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Shuai P ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Yang J ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Zhou Y ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Liu X ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Zhang K ( College of Clinical Medicine, Sichuan Medical University, Sichuan, China.); Tan C ( College of Clinical Medicine, Sichuan Medical University, Sichuan, China.); Li Y ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.); Lin Y ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 4Sichuan Translational.); Yang Z ( Sichuan Provincial Key Laboratory for Human Disease Gene Study, the Institute of Laboratory Medicine, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China 2Chengdu Institute of B.) |
| Abstract |
PURPOSE: Recently, three large genome-wide association studies have identified multiple variants associated with primary open angle glaucoma (POAG) near the ABCA1 gene. Considering that POAG and primary angle closure glaucoma (PACG) share many similar clinical manifestations, the present study was conducted to investigate whether these genetic variants were also associated with PACG in a Han Chinese population. METHODS: A case-control association study of 1122 cases (PACG/PAC) and 1311 normal, matched controls was undertaken. Seven single-nucleotide polymorphisms (SNPs) near the ABCA1 gene, including rs2422493, rs2487042, rs2472496, rs2472493, rs2487032, rs2472459, and rs2472519, were genotyped. Genotype and allele frequencies were assessed using χ² tests. Linkage disequilibrium (LD) structure was analyzed by computer software. RESULTS: Among the SNPs genotyped, no association was observed between these SNPs and PACG. However, we discovered that two haplotypes, CATTTAC (corrected P = 0.048) and CGCCCGC (corrected P = 0.048), remained significantly associated with PACG/PAC after Bonferroni correction. Subjects with the CATTTAC haplotype have a 1.71-fold increased possibility of having PACG/PAC, whereas subjects with the CGCCCGC haplotype have 0.47-fold decreased possibility of developing PACG. CONCLUSIONS: Our findings suggest that the genetic backgrounds of PACG and POAG might be different. However, whether or not ABCA1 plays a role in the development of PACG is still not made certain by this study. Thus, further research is needed to find the role of ABCA1 in the progress of PACG. |
