PURPOSE: To assess the genetic association of transcription factor 4 (TCF4) intronic polymorphisms and CTG18.1 allele in individuals with Fuchs' endothelial corneal dystrophy (FECD) individuals from a sample Indian population. METHODS: Forty-four FECD patients and 108 unrelated age-matched controls were recruited with informed consent for this study. Three, single nucleotide polymorphisms (SNPs) spanning the third intronic region of TCF4 (rs613872, rs17089887, and rs17089925) and an unstable trinucleotide repeat CTG18.1 allele were genotyped by direct sequencing using Sanger's method. The association of polymorphisms was analyzed using χ(2) test and logistic regression. RESULTS: SNP rs17089887 (P = 0.013) and CTG18.1 (P = 2 × 10(-4)) alleles were found to be significantly associated with FECD in the sample Indian population. However, the other two SNPs, rs613872 and rs17089925, were not likewise associated. Thirty-four percent of FECD subjects and 5% of control individuals harbor more than 50 trinucleotide repeats, which was considered as the disease threshold. CONCLUSIONS: TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
PURPOSE: To assess the genetic association of transcription factor 4 (TCF4) intronic polymorphisms and CTG18.1 allele in individuals with Fuchs' endothelial corneal dystrophy (FECD) individuals from a sample Indian population. METHODS: Forty-four FECDpatients and 108 unrelated age-matched controls were recruited with informed consent for this study. Three, single nucleotide polymorphisms (SNPs) spanning the third intronic region of TCF4 (rs613872, rs17089887, and rs17089925) and an unstable trinucleotide repeat CTG18.1 allele were genotyped by direct sequencing using Sanger's method. The association of polymorphisms was analyzed using χ(2) test and logistic regression. RESULTS: SNP rs17089887 (P = 0.013) and CTG18.1 (P = 2 × 10(-4)) alleles were found to be significantly associated with FECD in the sample Indian population. However, the other two SNPs, rs613872 and rs17089925, were not likewise associated. Thirty-four percent of FECD subjects and 5% of control individuals harbor more than 50 trinucleotide repeats, which was considered as the disease threshold. CONCLUSIONS:TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
Entities:
Keywords:
Fuchs' dystrophy; SNP; TCF4; genetic association
Authors: Naoki Okumura; Ryousuke Hayashi; Masakazu Nakano; Kei Tashiro; Kengo Yoshii; Ross Aleff; Malinda Butz; Edward W Highsmith; Eric D Wieben; Michael P Fautsch; Keith H Baratz; Yuya Komori; Emi Ueda; Makiko Nakahara; Julia Weller; Theofilos Tourtas; Ursula Schlötzer-Schrehardt; Friedrich Kruse; Noriko Koizumi Journal: Cornea Date: 2019-07 Impact factor: 2.651
Authors: Allen O Eghrari; Sina Vahedi; Natalie A Afshari; S Amer Riazuddin; John D Gottsch Journal: Invest Ophthalmol Vis Sci Date: 2017-12-01 Impact factor: 4.799