title: Evaluation of the Association Between Common Genetic Variants Near the ABCA1 Gene and Primary Angle Closure Glaucoma in a Han Chinese Population.
abstract: OBJECTIVE
  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.
authors.affiliation: 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.
authors.forename: Huaichao
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Yuhong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: 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.
authors.forename: Zimeng
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Xinghuai
authors.initials: X
authors.lastname: Sun
authors.affiliation: 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.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Department of Ophthalmology, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Sichuan, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Luo
authors.affiliation: 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.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: 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.
authors.forename: Ping
authors.initials: P
authors.lastname: Shuai
authors.affiliation: 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.
authors.forename: Jiyun
authors.initials: J
authors.lastname: Yang
authors.affiliation: 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.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: 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.
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.affiliation: College of Clinical Medicine, Sichuan Medical University, Sichuan, China.
authors.forename: Kaijiong
authors.initials: K
authors.lastname: Zhang
authors.affiliation: College of Clinical Medicine, Sichuan Medical University, Sichuan, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Tan
authors.affiliation: 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.
authors.forename: Yuanfeng
authors.initials: Y
authors.lastname: Li
authors.affiliation: 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.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: 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.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D064286:ATP Binding Cassette Transporter 1 / Q000096:biosynthesis / Q000235:genetics*; D000328:Adult; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012189:Retrospective Studies
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D004247:DNA