Association between TGFB3 and nonsyndromic cleft lip with or without cleft palate in a Chilean population

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
José SuazoRafael Blanco

Abstract

To assess the possible association between TGFB3 allele variants and nonsyndromic cleft lip with or without cleft palate in a Chilean population. In our study we used a case-parents trios design. The sample consisted of 150 unrelated trios ascertained through probands affected with nonsyndromic cleft lip with or without cleft palate. Three TGFB3 polymorphisms were analyzed (rs2268626, rs2268625, and rs3917201). An allele/haplotype transmission disequilibrium test was used to evaluate the possible genotype-phenotype association. An overtransmission from parents to affected progeny was observed for the A allele of rs3917201 (p = .03) and for the rs2268625-rs3917201 A-A haplotype (p = .022). A defect of transmission of rs2268625-rs3917201 G-G haplotype (p = .022) was observed also. Allelic and haplotypic associations implicate a possible role of TGFB3 in nonsyndromic cleft lip with or without cleft palate in the Chilean population. Additional studies are needed in order to elucidate the possible mechanisms that can explain the role of TGFB3 genetic variants in the condition.

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Citations

May 7, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fedik RahimovJeffrey C Murray
Sep 2, 2014·International Journal of Pediatric Otorhinolaryngology·C François-FiquetM Doco-Fenzy
Dec 15, 2012·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Leonardo Santos AntunesJose M Granjeiro
Feb 19, 2011·Nature Reviews. Genetics·Michael J DixonJeffrey C Murray
Oct 14, 2014·The Journal of Contemporary Dental Practice·Leonardo Santos AntunesErika Calvano Küchler

Methods Mentioned

BETA
genotyping

Related Concepts

RN1001
Adenine
Alleles
Cleft Lip
Cleft Palate, Isolated
Genetic Equilibrium
Guanine
Genetic Carriers
Genetic Polymorphism
Variation (Genetics)

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