An association study between SUFU gene polymorphisms and neural tube defects. (1st June 2014)

• Record Type: Journal Article
• Authors: Lu, Xiaolin; Wang, Zhen; Wang, Jianhua; Shangguan, Shaofang; Bao, Yihua; Lu, Ping; Wang, Li
• Is Part Of: International journal of neuroscience. Volume 124:Number 6(2014:Jun.)
• Page Start: 436
• Page End: 442
• Publication Date: 2014-06-01
• Subjects: neural tube defects -- SUFU gene -- polymorphism -- Sonic Hdgehog pathway -- association study; Nervous system -- Periodicals; 612.805
• DOI: 10.3109/00207454.2013.849249
• Languages: English
• ISSNs: 0020-7454

Abstract

Abstract : Neural tube defects (NTDs) in mammals are rooted in aberrant neural tube closure during early embryogenesis, which is caused by multiple environmental and genetic factors. The Sonic Hedgehog pathway is involved in the induction of the floor plate and participates in formation of the neural tube. Mutation of the suppressor of fused gene ( SUFU ), an essential repressor of Sonic Hedgehog signaling pathway, can result in NTDs. A case-control study was designed to compare the frequencies of the polymorphism at four sites in the SUFU gene in control and NTDs group, as well as in subtype groups, including anencephaly, spina bifida and encephalocele. We also explored the association between polymorphism and NTDs risk in a high prevalence population in China. Rs10786691, but not the other three SNPs, had an association between polymorphisms and NTDs. The heterozygous AG allele of rs10786691 was significantly related with NTDs and encephalocele (OR = 1.60, 95% CI: 1.04–2.48, p = 0.034; OR = 2.83, 95% CI: 1.07–7.47, p = 0.036). In female but not male fetuses, the AG genotype of rs10786691 increased the risk of NTDs (OR = 1.88, 95% CI: 1.03–3.41, p = 0.040). The SUFU rs10786691 A>G polymorphism may be a potential risk factor for NTDs and encephalocele in this high-risk population, but the association between the polymorphism and NTDs was probably influenced by gender.