Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population

Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population

The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis o...

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Main Authors: Babu Gurramkonda, Venkatesh, Syed, Altaf Hussain, Murthy, Jyotsna, V.K.S. Lakkakula, Bhaskar
Format: Online
Language:English
Published: Elsevier 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006125/
id pubmed-5006125
recordtype oai_dc
spelling pubmed-50061252016-09-09 Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population Babu Gurramkonda, Venkatesh Syed, Altaf Hussain Murthy, Jyotsna V.K.S. Lakkakula, Bhaskar Article The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05). These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population. Elsevier 2016-07-09 /pmc/articles/PMC5006125/ /pubmed/27617216 http://dx.doi.org/10.1016/j.mgene.2016.07.007 Text en © 2016 Elsevier B.V. All rights reserved.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Babu Gurramkonda, Venkatesh
Syed, Altaf Hussain
Murthy, Jyotsna
V.K.S. Lakkakula, Bhaskar
spellingShingle Babu Gurramkonda, Venkatesh
Syed, Altaf Hussain
Murthy, Jyotsna
V.K.S. Lakkakula, Bhaskar
Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
author_facet Babu Gurramkonda, Venkatesh
Syed, Altaf Hussain
Murthy, Jyotsna
V.K.S. Lakkakula, Bhaskar
author_sort Babu Gurramkonda, Venkatesh
title Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
title_short Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
title_full Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
title_fullStr Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
title_full_unstemmed Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
title_sort association of tfap2a gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south indian population
description The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05). These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population.
publisher Elsevier
publishDate 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006125/
_version_ 1613639877131239424

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