Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china

DNA and Cell Biology
Zhong-Lin JiaBing Shi


The interferon regulatory factor 6 (IRF6) gene and environmental factors have been shown to be associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in several populations. This study aimed to confirm the contribution of IRF6 and environmental factors to NSCL/P risk in western Han Chinese. Five single nucleotide polymorphisms (SNPs) were investigated in 107 case trios (child and parents) and 100 normal peers in western China using transmission disequilibrium test, case-control analysis, and logistic regression models. Strong evidence of linkage disequilibrium was found between these markers and the disease in both SNP analysis (A allele at rs4844880, G allele at rs2073485, and C allele at rs599021) and haplotype analysis (A-A for rs861019 and rs4844880, A-C for rs4844880 and rs599021, among others). Both mothers' medication and passive smoking during the first trimester of pregnancy may increase the risk of NSCL/P, but mothers' vitamins (including folic acid) supplementation during the first trimester was a protective factor. Interactions between mothers' abortion history and TT genotype of rs2235373 were statistically significant (odds ratio = 6.70, 95% confidence interval =1.69-26.52). Risk factors iden...Continue Reading


Dec 30, 2010·DNA and Cell Biology·Zhong-Lin JiaXiang-Li Kong
Mar 23, 2012·Journal of Applied Oral Science : Revista FOB·José Alberto de Souza FreitasJoão Henrique Nogueira Pinto
Nov 3, 2010·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Susan H BlantonJacqueline T Hecht
Feb 4, 2014·International Journal of Pediatric Otorhinolaryngology·Yu LinShijie Tang
Jan 22, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Susan H BlantonJacqueline T Hecht
Jun 29, 2010·American Journal of Medical Genetics. Part a·Ariadne LetraAlexandre R Vieira
Feb 6, 2010·Birth Defects Research. Part B, Developmental and Reproductive Toxicology·Chunqi Wu
Oct 12, 2016·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Zhang XuanLi Chenghao
Apr 24, 2018·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Bi-He ZhangZhong-Lin Jia
Apr 15, 2020·PLoS Computational Biology·Olga A VsevolozhskayaDmitri V Zaykin


Oct 1, 1991·American Journal of Epidemiology·M M WerlerA A Mitchell
Jul 1, 1996·Teratology·R G MungerJ Hanson
Mar 4, 1999·The Journal of Pediatrics·G M Shaw, Edward J Lammer
Mar 13, 2001·Annual Review of Immunology·T TaniguchiN Tanaka
Apr 21, 2001·European Journal of Human Genetics : EJHG·S HorvathN M Laird
Sep 10, 2002·Nature Genetics·Shinji KondoJeffrey C Murray
Mar 7, 2003·The Journal of Craniofacial Surgery·Francesco CarinciMauro Tognon
Feb 3, 2004·American Journal of Medical Genetics. Part a·R E SchultzJeffrey C Murray
Feb 26, 2004·American Journal of Medical Genetics. Part a·Lina M MorenoAndrew C Lidral
Apr 2, 2004·American Journal of Medical Genetics. Part a·Mary L MarazitaK Gürler Gürsu
Jun 30, 2004·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·J LittleUnited Kingdom-based case-control study
Aug 20, 2004·The New England Journal of Medicine·Theresa M ZuccheroJeffrey C Murray
May 27, 2005·Current Opinion in Genetics & Development·Astanand Jugessur, Jeffrey C Murray
Aug 13, 2005·American Journal of Medical Genetics. Part a·Susan H BlantonJacqueline T Hecht
Sep 1, 2005·European Journal of Human Genetics : EJHG·Michella GhassibéMiikka Vikkula
Oct 26, 2005·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Alexandra S KnightMichael J Dixon
Nov 12, 2005·Current Opinion in Pediatrics·Andrew C Lidral, Lina M Moreno
Feb 2, 2006·European Journal of Epidemiology·Nándor AcsAndrew E Czeizel
Apr 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ji Wan ParkTerri H Beaty
Jun 28, 2008·International Journal of Epidemiology·Candice Y Johnson, Julian Little

Related Concepts

Interferon Regulatory Factors
Cleft Palate, Isolated
Dysequilibrium Syndrome
NHLH1 gene
Cleft Lip With or Without Cleft Palate
Protective Factors
Nested Case-Control Studies
Cleft Lip
IRF6 protein, human

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