Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/242423
Type: Artigo de periódico
Title: Genotype-phenotype Correlations In Cyp1b1-associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts From India And Brazil
Author: de Melo
Monica Barbosa; Mandal
Anil K.; Tavares
Ivan M.; Ali
Mohammed Hasnat; Kabra
Meha; Cabral de Vasconcellos
Jose Paulo; Senthil
Sirisha; Sallum
Juliana M. F.; Kaur
Inderjeet; Betinjane
Alberto J.; Moura
Christiane R.; Paula
Jayter S.; Costa
Karita A.; Sarfarazi
Mansoor; Della Paolera
Mauricio; Finzi
Simone; Ferraz
Victor E. F.; Costa
Vital P.; Belfort
Rubens
Jr.; Chakrabarti
Subhabrata
Abstract: Background Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300). Methods Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1). Results The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05). Conclusions The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.
Subject: Cytochrome P4501b1 Cyp1b1
Molecular-genetics
Japanese Patients
United-states
Ltbp2 Gene
Mutations
Population
Families
Locus
Buphthalmos
Country: SAN FRANCISCO
Editor: PUBLIC LIBRARY SCIENCE
Citation: Genotype-phenotype Correlations In Cyp1b1-associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts From India And Brazil. Public Library Science, v. 10, p. MAY-2015.
Rights: aberto
Identifier DOI: 10.1371/journal.pone.0127147
Address: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127147
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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