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Association study between candidate genes on transforming growth factor-β signaling pathway and the risk of non-syndromic cleft lip with or without cleft palate in Chinese populations

  • WANG Zhu-Qing ,
  • WANG Ping ,
  • WU Ya-Hui ,
  • YE Xiao-Qian ,
  • HUANG Shang-Zhi ,
  • SHI Bing ,
  • WANG Ke ,
  • YUAN Yuan ,
  • LIU Dong-Jing ,
  • WU Tao ,
  • WANG Hong ,
  • Terri H. Beaty
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  • (1. Department of Epidemiology and Biostatistics, Peking University School of Public Health, Beijing 100191, China;
    2. Beijing Center for Disease Prevention and Control, Beijing 100013, China; 3. Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan 33305, China; 4. Department of Pediatric Dentistry, Wuhan University School of Stomatology, Wuhan 430079, China; 5. Mount Sinai Medical Center, New York 10029, USA; 6. Department of Medical Genetics, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China; 7. Department of Oral and Maxillofacial Surgery, State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu 610041, China; 8.Department of Oral Surgery,Qingdao University Medical College, Qingdao 266000, China; 9. Johns Hopkins University, School of Public Health, Baltimore, Maryland 21205, USA)

Online published: 2015-06-18

Abstract

Objective:To explore the association between 10 candidate genes on transforming growth factor-β (TGFB) signaling pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese populations, and to study the gene-environment interaction. Methods: A total of 806 Chinese Han NSCL/P trios were ascertained from an international consortium, which conducted a genome-wide association study using a case-parent trio design to investigate the genes affecting risk to NSCL/P. The transmission disequilibrium test (TDT) was used to test for effects of 343 single nucleotide polymorphisms (SNPs) in 10 genes on TGFB signaling pathway including DCN, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, BAMBI, SMAD2, SMAD3 and SMAD4. The conditional regression models were used to test for gene-environment interaction. Results: For TDT, although 19 SNPs showed nominal significant association with NSCL/P, no significant evidence of association was seen for all SNPs in 806 NSCL/P trios after Bonferroni correction. The interactions between genes and maternal smoking, environmental tobacco smoke, alcohol consumption and multi-vitamin supplementation during pregnancy did not attain statistical significance after correction for multiple comparisons. Conclusion: No evidence for SNP effect of genes on TGFB signaling pathway and significant gene-environment interaction was seen in our data.

Cite this article

WANG Zhu-Qing , WANG Ping , WU Ya-Hui , YE Xiao-Qian , HUANG Shang-Zhi , SHI Bing , WANG Ke , YUAN Yuan , LIU Dong-Jing , WU Tao , WANG Hong , Terri H. Beaty . Association study between candidate genes on transforming growth factor-β signaling pathway and the risk of non-syndromic cleft lip with or without cleft palate in Chinese populations[J]. Journal of Peking University(Health Sciences), 2015 , 47(3) : 384 -389 . DOI: 10.3969/j.issn.1671-167X.2015.03.004

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