Literature DB >> 19734457

Association between IRF6 SNPs and oral clefts in West China.

Y Huang1, J Wu, J Ma, T H Beaty, J W Sull, L Zhu, D Lu, Y Wang, T Meng, B Shi.   

Abstract

Analyses of previous data have confirmed the contribution of the IRF6 gene to susceptibility to non- syndromic oral clefts (NSOC) in some populations. We tested for associations between the rs2013162, rs2235375, and rs2235371 polymorphisms in IRF6 and the risk of NSOC, using both case-parent trio and case-control designs on samples from western China. Our study group consisted of 332 persons with NSOC, their parents (289 mothers and 243 fathers for 206 complete trios for these three SNPs), and 174 control individuals. We found strong evidence of over- and under-transmission of the C allele (the Val allele) at rs2235371, and the C allele at rs2235375 in cleft case-parent trios (P = 0.013 and P = 0.000, respectively). There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at rs2235371 and rs2235375. Five specific haplotypes showed significant over- and under-transmission. These results further support a role for IRF6 variants in western Chinese populations.

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Year:  2009        PMID: 19734457      PMCID: PMC2901597          DOI: 10.1177/0022034509341040

Source DB:  PubMed          Journal:  J Dent Res        ISSN: 0022-0345            Impact factor:   6.116


  14 in total

1.  Finding needles in haystacks--IRF6 gene variants in isolated cleft lip or cleft palate.

Authors:  Aravinda Chakravarti
Journal:  N Engl J Med       Date:  2004-08-19       Impact factor: 91.245

2.  The family based association test method: strategies for studying general genotype--phenotype associations.

Authors:  S Horvath; X Xu; N M Laird
Journal:  Eur J Hum Genet       Date:  2001-04       Impact factor: 4.246

3.  Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population.

Authors:  C Srichomthong; P Siriwan; V Shotelersuk
Journal:  J Med Genet       Date:  2005-07       Impact factor: 6.318

4.  Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions.

Authors:  Mary L Marazita; L Leigh Field; Margaret E Cooper; Rose Tobias; Brion S Maher; Supakit Peanchitlertkajorn; You-e Liu
Journal:  Cleft Palate Craniofac J       Date:  2002-03

Review 5.  Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.

Authors:  Andrew C Lidral; Jeffrey C Murray
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2004-12

6.  Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.

Authors:  Theresa M Zucchero; Margaret E Cooper; Brion S Maher; Sandra Daack-Hirsch; Buena Nepomuceno; Lucilene Ribeiro; Diana Caprau; Kaare Christensen; Yasushi Suzuki; Junichiro Machida; Nagato Natsume; Koh-Ichiro Yoshiura; Alexandre R Vieira; Ieda M Orioli; Eduardo E Castilla; Lina Moreno; Mauricio Arcos-Burgos; Andrew C Lidral; L Leigh Field; You-e Liu; Ajit Ray; Toby H Goldstein; Rebecca E Schultz; Min Shi; Marla K Johnson; Shinji Kondo; Brian C Schutte; Mary L Marazita; Jeffrey C Murray
Journal:  N Engl J Med       Date:  2004-08-19       Impact factor: 91.245

7.  Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.

Authors:  Astanand Jugessur; Fedik Rahimov; Rolv T Lie; Allen J Wilcox; Håkon K Gjessing; Roy M Nilsen; Truc Trung Nguyen; Jeffrey C Murray
Journal:  Genet Epidemiol       Date:  2008-07       Impact factor: 2.135

8.  Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.

Authors:  Mary L Marazita; L Leigh Field; Margaret E Cooper; Rose Tobias; Brion S Maher; Supakit Peanchitlertkajorn; You-e Liu
Journal:  Am J Hum Genet       Date:  2002-06-26       Impact factor: 11.025

9.  Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Authors:  Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan C Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Journal:  Nat Genet       Date:  2002-09-03       Impact factor: 38.330

10.  Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.

Authors:  Luca Scapoli; Annalisa Palmieri; Marcella Martinelli; Furio Pezzetti; Paolo Carinci; Mauro Tognon; Francesco Carinci
Journal:  Am J Hum Genet       Date:  2004-11-19       Impact factor: 11.025

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  16 in total

Review 1.  Genetics of nonsyndromic orofacial clefts.

Authors:  Fedik Rahimov; Astanand Jugessur; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2011-05-05

2.  Abnormal cerebellar structure is dependent on phenotype of isolated cleft of the lip and/or palate.

Authors:  Ian DeVolder; Lynn Richman; Amy L Conrad; Vincent Magnotta; Peg Nopoulos
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

Review 3.  The evolution of human genetic studies of cleft lip and cleft palate.

Authors:  Mary L Marazita
Journal:  Annu Rev Genomics Hum Genet       Date:  2012-06-06       Impact factor: 8.929

4.  Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

Authors:  Tao Wu; Kung Yee Liang; Jacqueline B Hetmanski; Ingo Ruczinski; Margaret Daniele Fallin; Roxann G Ingersoll; Hong Wang; Shangzhi Huang; Xiaoqian Ye; Yah-Huei Wu-Chou; Philip K Chen; Ethylin W Jabs; Bing Shi; Richard Redett; Alan F Scott; Terri H Beaty
Journal:  Hum Genet       Date:  2010-07-23       Impact factor: 4.132

5.  No evidence of HAND2 involvement in nonsyndromic cleft lip with or without cleft palate.

Authors:  Marcella Martinelli; Ambra Girardi; Francesca Farinella; Francesco Carinci; Furio Pezzetti; Elisabetta Caramelli; Luca Scapoli
Journal:  Clin Oral Investig       Date:  2011-03-24       Impact factor: 3.573

6.  Role of PAX7 Gene rs766325 and rs4920520 Polymorphisms in the Etiology of Non-syndromic Cleft Lip and Palate: A Genetic Study.

Authors:  Mahamad Irfanulla Khan; Prashanth Cs; Narasimhamurty Srinath
Journal:  Glob Med Genet       Date:  2022-07-15

7.  TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

Authors:  Yongping Lu; Qiang Liu; Wei Xu; Zengjian Li; Miao Jiang; Xuefu Li; Ning Zhao; Wei Liu; Yu Sui; Chao Ma; Wenhua Feng; Weitian Han; Jianxin Li
Journal:  PLoS One       Date:  2013-08-06       Impact factor: 3.240

8.  Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate.

Authors:  Ariadne Letra; Walid Fakhouri; Renata F Fonseca; Renato Menezes; Inga Kempa; Joanne L Prasad; Toby G McHenry; Andrew C Lidral; Lina Moreno; Jeffrey C Murray; Sandra Daack-Hirsch; Mary L Marazita; Eduardo E Castilla; Baiba Lace; Ieda M Orioli; Jose M Granjeiro; Brian C Schutte; Alexandre R Vieira
Journal:  PLoS One       Date:  2012-09-20       Impact factor: 3.240

9.  Detecting genetic association of common human facial morphological variation using high density 3D image registration.

Authors:  Shouneng Peng; Jingze Tan; Sile Hu; Hang Zhou; Jing Guo; Li Jin; Kun Tang
Journal:  PLoS Comput Biol       Date:  2013-12-05       Impact factor: 4.475

10.  IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip.

Authors:  Aurora Ibarra-Arce; Martín García-Álvarez; Daniel Cortés-González; Gabriela Ortiz de Zarate-Alarcón; Laura Flores-Peña; Sandra Sánchez-Camacho; Silvia Arenas-Díaz; Mirza Romero-Valdovinos; Angélica Olivo-Díaz
Journal:  Meta Gene       Date:  2015-03-09
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