alexa Genetic Study of 12 SNPs involved in 11 Folate Metaboli
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Research Article

Genetic Study of 12 SNPs involved in 11 Folate Metabolism Genes and Neural Tube Defects in Suzhou Children

Qin Zhu1#, Li Li2#, Ting Wang3, Wei Jiang4, Jie Ding3, Minjuan Liu5, Yun Wang1* and Haibo Li3*

1Obstetrical Department, Nanjing Medical University Affiliated Suzhou Hospital, PR China

2Obstetrical Department, Maternal and Children Health Care Hospital in Yinchuan, PR China

3Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, PR China

4Center for Medical Ultrasound, Nanjing Medical University Affiliated Suzhou Hospital, PR China

5Gynecology Department, Nanjing Medical University Affiliated Suzhou Hospital, PR China

#Contributed equally and are joint first authors

*Corresponding Author:
Haibo Li
Center for Reproduction and Genetics
Nanjing Medical University Affiliated
Suzhou Hospital, 215002, PR China
Tel: 86051262362417
E-mail: [email protected]
 
Yun Wang
Obstetrical Department
Nanjing Medical University Affiliated
Suzhou Hospital, 215002, PR China
Tel: 86051262362138
E-mail: [email protected]

Received date: April 20, 2016; Accepted date: June 21, 2016; Published date: June 26, 2016

Citation: Zhu Q, Li L, Wang T, Jiang W, Ding J, et al. (2016) Genetic Study of 12 SNPs involved in 11 Folate Metabolism Genes and Neural Tube Defects in Suzhou Children. J Mol Genet Med 10:219. doi:10.4172/1747-0862.1000219

Copyright: © 2016 Zhu Qin, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Objective: Neural tube defect (NTD) incidence could be effectively reduced by folic acid supplementation before and during pregnancy. We studied single nucleotide polymorphisms (SNPs) involved in folate metabolism to explore genetic susceptibility to NTD. We studied the association between 12 SNPs involved in 11 folate metabolism genes and NTDs.

Methods: We enrolled 76 children with NTD and 188 control children. We genotyped 12 folate metabolism SNPs including CBS-C699T, DHFR-c594+59del19, GSTO1-C428T, MTHFD-G1958A, MTHFR-C677T, MTHFR-A1298C, MTR-A2756G, MTRR-A66G, NFE2L2-ins1+C11108T, RFC1-G80A, TCN2-C776T, and TYMS-1494del6 using SNaPShot genotyping technology and confirmed by Sanger sequencing.

Results: One SNP, TYMS-1494del6, and one compound wide-type genotype of RFC1-G80A, MTHFR-A1298C and TCN2-C776T might decrease NTD risk, and three compound mutation genotypes of MTHFD-G1958A, MTHFRC677T, and MTR-A2756G; MTHFD-G1958A, MTR-A2756G, and RFC1-G80A; and RFC1-G80A, MTHFR-A1298C, and TCN2-C776T might increase NTD risk. The TT genotype of TYMS-1494del6 (P<0.001) and the AT+TT genotype of TYMS-1494del6 (P=0.009) were significant genotypes. Fourteen in 188 control babies carried the compound wide-type genotype of RFC1-G80A, MTHFR-A1298C, and TCN2-C776T, but none in 76 NTD babies (P=0.014). The ratios of the two compound mutants for MTHFD-G1958A, MTHFR-C677T, MTR-A2756G, and MTHFD-G1958A, RFC1-G80A, MTR-A2756G in NTD were higher than in control babies (P=0.021) and RFC1- G80A, MTHFR-A1298C, and TCN2-C776T (P=0.029).

Conclusions: The TT genotype of TYMS-1494del6 and the two wide-type genotypes of RFC1-G80A, MTHFRA1298C, and TCN2-C776T are protective in NTD. Three compound mutation genotypes of MTHFD-G1958A, MTHFR-C677T, MTR-A2756G, MTHFD-G1958A, MTR-A2756G, RFC1-G80A, and RFC1-G80A, MTHFR-A1298C, TCN2-C776T might increase susceptibility to NTD.

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