PT - JOURNAL ARTICLE AU - Bo Gong AU - Chao Qu AU - Xiulan Li AU - Yi Shi AU - Ying Lin AU - Yu Zhou AU - Ping Shuai AU - Yin Yang AU - Xiaoqi Liu AU - Dingding Zhang AU - Zhenglin Yang TI - Mutation spectrum of <em>CYP1B1</em> in Chinese patients with primary open-angle glaucoma AID - 10.1136/bjophthalmol-2014-306054 DP - 2015 Mar 01 TA - British Journal of Ophthalmology PG - 425--430 VI - 99 IP - 3 4099 - http://bjo.bmj.com/content/99/3/425.short 4100 - http://bjo.bmj.com/content/99/3/425.full SO - Br J Ophthalmol2015 Mar 01; 99 AB - Purpose 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.