RT Journal Article A1 Chakrabarti, Subhabrata A1 Devi, Koilkonda R. A1 Komatireddy, Sreelatha A1 Kaur, Kiranpreet A1 Parikh, Rajul S. A1 Mandal, Anil K. A1 Chandrasekhar, Garudadri A1 Thomas, Ravi T1 Glaucoma-Associated CYP1B1 Mutations Share Similar Haplotype Backgrounds in POAG and PACG Phenotypes JF Investigative Ophthalmology & Visual Science JO Invest. Ophthalmol. Vis. Sci. YR 2007 DO 10.1167/iovs.07-0629 VO 48 IS 12 SP 5439 OP 5444 SN 1552-5783 AB 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. RD 4/11/2021 UL https://doi.org/10.1167/iovs.07-0629