title: Mutation spectrum of CYP1B1 in Chinese patients with primary open-angle glaucoma.
abstract: OBJECTIVE
  The CYP1B1 gene has been shown to be related to primary open-angle glaucoma (POAG). This study aimed to identify the mutation profile of CYP1B1 in Chinese individuals with POAG.
  
  
  METHODS
  The study included 416 unrelated cases diagnosed as POAG by standard ophthalmological examinations, and 657 unrelated healthy controls in a Chinese population. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of CYP1B1 was amplified by PCR from genomic DNA, followed by direct DNA sequencing.
  
  
  RESULTS
  Among 416 patients with POAG, 13 missense mutations, including nine reported mutations and four novel mutations (p.P93S, p.R259C, p.A295T, p.L475P), were detected in 25 patients. All these mutations were found as heterozygotes and the reported mutations have been previously found in primary congenital glaucoma and/or POAG patients. Three of them (p.L107V, p.E229K, p.V320L) were also found in healthy controls. In addition, six previously reported single nucleotide polymorphisms (p.R48G, p.A119S, p.V243V, p.V432L, p.D449D, p.N453S) were also observed in POAG patients and controls, and they showed no obvious frequency difference between patients and controls.
  
  
  CONCLUSIONS
  This study provides a mutation spectrum of CYP1B1 resulting in POAG development in a Chinese population, which may demonstrate an involvement of the gene in a proportion of subjects with POAG and help to improve our understanding of the pathogenesis of CYP1B1-associated POAG.
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China Department of Ophthalmology, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors.forename: Xiulan
authors.initials: X
authors.lastname: Li
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Shuai
authors.affiliation: School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China Department of Ophthalmology, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
authors.forename: Yin
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Dingding
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Sichuan Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1
keywords: Genetics; Glaucoma