title: Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population.
abstract: OBJECTIVE
  To investigate the association of PLEKHA7 and COL11A1 with primary angle closure glaucoma, as well as acute and chronic subphenotype, in a Han Chinese population.
  
  
  METHODS
  A total of 984 cases, including 606 primary angle closure glaucoma (PACG) and 378 primary angle closure (PAC), and 922 normal controls were recruited. Twelve single nucleotide polymorphisms (SNPs) (rs1676486, rs3753841, rs12138977, rs2126642, rs2622848, rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) in the PLEKHA7 gene and COL11A12 gene were genotyped. Distributions of allele frequencies were compared between cases and controls as well as in patient subgroups with or without acute attacks.
  
  
  RESULTS
  Four of the 12 SNPs, including rs1676486 (P = 0.0060) and rs12138977 (P = 0.028) in COL11A1, as well as rs216489 (P = 0.0074) and rs11024102 (P = 0.038) in PLEKHA7, were found to have a statistically significant association with PAC/PACG. In the subgroup analysis, 6 out of 12 SNPs (rs1676486, rs3753841, rs12138977, rs216489, rs11024060, and rs11024102) showed statistically significant differences between acute PAC/PACG cases and controls. However, none of them showed statistically significant differences between chronic PAC/PACG cases and controls.
  
  
  CONCLUSIONS
  Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma. Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG. Further work is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye and Ear Nose Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Yuhong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye and Ear Nose Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Xueli
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye and Ear Nose Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: University of California, Irvine School of Medicine, Irvine, California, United States.
authors.forename: Guy
authors.initials: G
authors.lastname: Hughes
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye and Ear Nose Throat Hospital, Fudan University, Shanghai, China.
authors.forename: Shaohong
authors.initials: S
authors.lastname: Qian
authors.affiliation: Department of Ophthalmology and Vision Science, Shanghai Medical College, Eye and Ear Nose Throat Hospital, Fudan University, Shanghai, China State Key Laboratory of Medical Neurobiology, Institutes of Brain Science, Fudan University, Shanghai, China.
authors.forename: Xinghuai
authors.initials: X
authors.lastname: Sun
mesh_terms: D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002681:China / Q000453:epidemiology; D024161:Collagen Type XI / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence
chemical_list: C574182:COL11A1 protein, human; D002352:Carrier Proteins; D024161:Collagen Type XI; C533786:PLEKHA7 protein, human; D004247:DNA
keywords: COL11A1; PACG; PLEKHA7; SNP; glaucoma