Association between VANGL1 Gene Polymorphisms and Neural Tube Defects

Chunquan Cai; Ouyan Shi; Baiqi Wang; Baoxing Chang; Rui Yang; Yinsong Wang; Fang Wang; Changhong Shen

doi:10.1055/s-0033-1364103

Neuropediatrics, Table of Contents

Neuropediatrics 2014; 45(04): 234-239
DOI: 10.1055/s-0033-1364103

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Association between VANGL1 Gene Polymorphisms and Neural Tube Defects

Authors

Chunquan Cai

¹Department of Surgery, Tianjin Children's Hospital, Tianjin, China

²Pediatric Clinical Institute of Tianjin Medical University, Tianjin, China
Ouyan Shi

³School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Baiqi Wang

⁴School of Public Health, Tianjin Medical University, Tianjin, China

⁵Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Baoxing Chang

³School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Rui Yang

⁵Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Yinsong Wang

⁵Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Fang Wang

⁵Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, China
Changhong Shen

⁶Department of Neurosurgery, General Hospital of Tianjin Medical University, Tianjin, China

Abstract

Neural tube defects (NTDs) are common, severe congenital malformations. The association between single nucleotide polymorphisms of the VANGL1 gene and NTDs in a Han population of Northern China was principally studied. Missense single nucleotide polymorphisms (rs4839469 c.346G > A p.Ala116Thr and rs34059106 c.1040A > C p.Glu347Ala) of the VANGL1 gene were analyzed by polymerase chain reaction (PCR) and sequencing methods in 135 NTD cases and 135 normal controls. Genotype and allele frequency distribution was calculated, and the spatial structure of the protein was predicted. The results showed that the VANGL1 gene sequence at the rs4839469 locus exhibited Ala116Thr and Ala116Pro polymorphisms, and allele and genotype distributions were significantly different (p = 0.036 and 0.010) between the case and control group. Genotype GC was newly discovered, and its odds ratio value versus GG genotype was 10.241; the α helix fragment of the Ala116Pro mutant was significantly shortened compared with wild type. The rs34059106 site showed alleles of A and did not display C alleles in the two groups. Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs. And genotype GC increased the risk of NTDs, changes in the three-dimensional protein structure may have impacted its biological functions, and the rs34059106 polymorphism had no significant correlation with NTDs.

Keywords

neural tube defects - VANGL1 - gene polymorphisms

Full Text

References

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