Open AccessEvaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population
Author(s) -
NG Vidya,
Vasavada Ar,
Sankaranarayanan Rajkumar
Publication year - 2018
Publication title -
journal of postgraduate medicine/journal of postgraduate medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.405
H-Index - 52
eISSN - 0972-2823
pISSN - 0022-3859
DOI - 10.4103/jpgm.jpgm_219_17
Subject(s) - medicine , microphthalmia , homeobox , association (psychology) , bone morphogenetic protein , population , single nucleotide polymorphism , ophthalmology , genetics , genotype , gene , transcription factor , environmental health , biology , philosophy , epistemology
Congenital cataract and microphthalmia are highly heterogeneous congenital eye disorders that affect normal vision. Although mutation in several genes has been shown to cause congenital cataract and microphthalmia, genetic studies associating single-nucleotide polymorphisms with these conditions is scarce. Hence, the present study aims to investigate the association of bone morphogenetic protein 4 (BMP4)-V152A (rs17563), and SIX homeobox 6 (SIX6)-H141N (rs33912345) polymorphisms with congenital cataract and microphthalmia in Western Indian cohorts.