Open AccessDeciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract
Author(s) -
Vidya Nair,
Sankaranarayanan Rajkumar,
Abhay R. Vasavada
Publication year - 2021
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_3062_20
Subject(s) - single nucleotide polymorphism , haplotype , genetics , allele , genotype , biology , odds ratio , intron , allele frequency , gene , medicine
Introns play an important role in gene regulation and expression. Single nucleotide polymorphisms (SNPs) in introns have the potential to cause disease and alter the genotype-phenotype association. Hence, this study aimed to decipher the association of SNPs in the introns of the crystallin gene in congenital cataracts.