RGD Reference Report - Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. - Rat Genome Database

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

Authors: Chakrabarti, S  Devi, KR  Komatireddy, S  Kaur, K  Parikh, RS  Mandal, AK  Chandrasekhar, G  Thomas, R 
Citation: Chakrabarti S, etal., Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5439-44.
RGD ID: 7800696
Pubmed: PMID:18055790   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.07-0629   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary open angle glaucoma susceptibilityIAGP 7800696DNA:snp more ...RGD 
primary open angle glaucoma susceptibilityISOCYP1B1 (Homo sapiens)7800696; 7800696DNA:snp more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal optic disc morphology susceptibilityIAGP 7800696DNA:snp more ...RGD 
Adult onset susceptibilityIAGP 7800696DNA:snp more ...RGD 
Ocular hypertension susceptibilityIAGP 7800696DNA:snp more ...RGD 
Visual field defect susceptibilityIAGP 7800696DNA:snp more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Mus musculus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP1B1  (cytochrome P450 family 1 subfamily B member 1)


Additional Information