Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate

American Journal of Medical Genetics. Part a
José SuazoRafael Blanco

Abstract

Based on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (MSX1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (NSCLP). Parent-of-origin effects have been suggested for some NSCLP candidate genes but not for MSX1. The aims of the present study were to test for allele/haplotype associations applying the transmission disequilibrium test (TDT) and the transmission asymmetry test (TAT) to evaluate the possible parent-of-origin effects of MSX1 in Chilean patients with NSCLP. We analyzed five SNPs (rs6446693/c.-425G>T/c.-35G>A/rs3775261/rs12532) located from 6.3 kb upstream to 3' UTR in a sample of 150 unrelated NSCLP case-parent trios. Four haplotypes showed overtransmission from parents to affected progeny, but individual SNPs did not. Two haplotypes presented allele combination C-G-A-G (P = 0.035) and two T-G-C-A (P = 0.044) (SNP order rs6446693/c.-35G>A/rs3775261/rs12532). The rs12532 A allele had a 2.08-fold increase in the risk of NSCLP when inherited from the father (95% CI: 1.10-4.02; P = 0.025), but not from the mother. These results could indicate epigenetic control by imprinting in the role of MSX1 in NSCLP. Different a...Continue Reading

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Citations

Dec 13, 2012·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Hooshang RafighdoostMohsen Taheri
Apr 4, 2016·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Fang LuanHaixia Zhang
Nov 8, 2012·Oral Diseases·M L CardosoA A Rezende
Nov 21, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Sibele Nascimento de AquinoRicardo D Coletta
Mar 27, 2015·Birth Defects Research. Part A, Clinical and Molecular Teratology·Pamella Kelly Farias de AguiarDarlene Camati Persuhn
Oct 13, 2016·International Journal of Pediatric Otorhinolaryngology·Aurora Ibarra-ArceAngélica Olivo-Díaz
Mar 8, 2014·Journal of Dental Research·L MaL Wang
Aug 13, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Lord J J GowansAzeez Butali

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