Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population. Issue 6 (13th June 2013)

• Record Type: Journal Article
• Authors: Wang, Zhen; Wang, Li; Shangguan, Shaofang; Lu, Xiaolin; Chang, Shaoyan; Wang, Jianhua; Zou, Jizhen; Wu, Lihua; Zhang, Ting; Luo, Yi
• Is Part Of: Birth defects research. Volume 97:Issue 6(2013:Jun.)
• Page Start: 409
• Page End: 415
• Publication Date: 2013-06-13
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23152
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23152-sec-0100" sec-type="section"> <title>BACKGROUND</title> <p>SHH signaling pathway plays an important role in the formation of the neural plate and is involved in the regulation of the dorsoventral (DV) axis of the neural tube. Some neural tube defects (NTDs) may be caused through overactivation of the SHH signaling pathway. The <italic>PTCH1</italic> gene, encoding a negative regulator of SHH signaling, affects neural tube closure in animal models. However, in humans, the relationship between single nucleotide polymorphisms (SNPs) of the <italic>PTCH1</italic> gene and neural tube defects remains unclear.</p> </sec> <sec id="bdra23152-sec-0102" sec-type="section"> <title>METHODS</title> <p>MassARRAY®GENOTYPER™ was used to genotype 18 SNPs of the <italic>PTCH1</italic> gene in 187 NTDs and 212 control samples, to determine whether <italic>PTCH1</italic> polymorphisms are related to NTDs. MassARRAY®EpiTYPER™ was performed to assess whether methylation modifications may be associated with SNP genotypes in this Chinese population.</p> </sec> <sec id="bdra23152-sec-0103" sec-type="section"> <title>RESULT</title> <p>Increased risk for spina bifida was observed with the G allele of c.3944C>T and the T allele of c.1729™2350G>A in female patients when compared to the normal control group. High methylation levels were detected in those controls bearing the G allele of c.3944C>T.</p> </sec> <sec id="bdra23152-sec-0104" sec-type="section"> <title>Conclusion</title> <p>In summary, polymorphisms of the <italic>PTCH1</italic> gene may be genetic predisposing factors for spina bifida in the population studied. In addition, methylation modifications associated with the c.3944C>T polymorphism, may provide protection. <italic>Birth Defects Research (Part A) 97:409–415, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>