Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population

Gargi Gouranga Nanda; Biswajit Padhy; Sujata Samal; Sujata Das; Debasmita Pankaj Alone

doi:10.1167/iovs.14-15297

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Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population

Journal article

Peer reviewed

Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population

Gargi Gouranga Nanda, Biswajit Padhy, Sujata Samal, Sujata Das and Debasmita Pankaj Alone

Investigative ophthalmology & visual science, Vol.55(11), pp.7674-7680

10/23/2014

DOI: 10.1167/iovs.14-15297

PMID: 25342617

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Abstract

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. 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. 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. TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population.

Adult

Aged

Aged, 80 and over

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism

DNA - genetics

Follow-Up Studies

Fuchs' Endothelial Dystrophy - epidemiology

Fuchs' Endothelial Dystrophy - genetics

Fuchs' Endothelial Dystrophy - metabolism

Genetic Predisposition to Disease

Genotype

Humans

India - epidemiology

Introns

Male

Middle Aged

Polymerase Chain Reaction

Polymorphism, Genetic

Prevalence

Transcription Factor 4

Transcription Factors - genetics

Transcription Factors - metabolism

Details

Title: Subtitle: Genetic association of TCF4 intronic polymorphisms, CTG18.1 and rs17089887, with Fuchs' endothelial corneal dystrophy in an Indian population
Creators: Gargi Gouranga Nanda - National Institute of Science Education and Research
Biswajit Padhy - National Institute of Science Education and Research
Sujata Samal - L V Prasad Eye Institute
Sujata Das - L V Prasad Eye Institute
Debasmita Pankaj Alone - National Institute of Science Education and Research
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.55(11), pp.7674-7680
DOI: 10.1167/iovs.14-15297
PMID: 25342617
ISSN: 1552-5783
eISSN: 1552-5783
Language: English
Date published: 10/23/2014
Academic Unit: Internal Medicine
Record Identifier: 9985157526602771

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