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Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Abstract：

PURPOSE:To understand the involvement of the CYP1B1 gene in cases of primary open-angle (POAG) and primary angle-closure (PACG) glaucomas and obtain the haplotype background of these mutations. METHODS:The entire coding region of CYP1B1 was screened by resequencing in 224 unrelated cases of POAG (n = 134) and PACG (n = 90) and 200 ethnically matched normal control subjects from Indian populations. Six intragenic single nucleotide polymorphisms (SNPs) in CYP1B1 (-13T>C, R48G, A119S, V432L, D449D, and N453S) were used to generate haplotype data for the cases and controls and linkage disequilibrium (LD) and haplotype analysis were performed with Haploview software, which uses the EM (expectation-maximization) algorithm. RESULTS:The frequency of CYP1B1 mutations was higher among POAG (18.6%; 95% CI, 12.9-26.1) than PACG (11.1%; 95% CI, 6.1-19.3) cases. There was a marked allelic heterogeneity, and the Arg368His was the most prevalent mutation across both the phenotypes. The spectrum of CYP1B1 mutations was largely similar across different POAG populations. Haplotypes generated with intragenic SNPs indicated the C-C-G-G-T-A to be a risk haplotype associated with CYP1B1 mutations in POAG (P = 0.006) and PACG (P = 0.043), similar to that observed in cases of primary congenital glaucoma worldwide. CONCLUSIONS:The results demonstrate an involvement of CYP1B1 in a proportion of POAG and PACG cases that should be explored further. The similar haplotype background of these mutations is indicative of their common origin across multiple glaucoma phenotypes.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Chakrabarti S,Devi KR,Komatireddy S,Kaur K,Parikh RS,Mandal AK,Chandrasekhar G,Thomas R

doi

10.1167/iovs.07-0629

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

5439-44

issue

12

eissn

0146-0404

issn

1552-5783

pii

48/12/5439

journal_volume

48

pub_type

杂志文章

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