Does SLC30A4 (ZNT4) gene exon 5 915 T-C alteration play a role in neural tube defects?

N. Akar, E. Akar, B. Araç, A. Ulu, M. Ekim

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Previous data in human studies are evidence for the possible role of zinc metabolism in at least some of the mothers of babies with NTDs. So it is logical that genes that mediate absorption of ingested zinc could be a candidate for a teratogenic loci. So, we analyzed the effect of a common polymorphism in the exon 5 of the SLC30A4 (ZNT4) gene 915 T-C on zinc absorption, with respect to a group of NTD babies and their mothers compared to healthy controls. The case control study included 112 individuals of which 66 had meningomyelocele, 46 had closed spina bifida, 105 mothers who gave birth to NTD babies and 142 controls. Genotyping for the mutation and plasma Zn levels after the oral zinc tolerance test was determined as previously described. Our data revealed that TT carriers in control group were 2.8% and in NTD mothers it was 6.6% with an OR of 2.3. Oral zinc tolerance test of the control group with respect to carrying C or T alleles of the gene either in heterozygous or homozygous state revealed a marked difference at the second hour (p < 0.000) between the carriers of CC and TT indicating that this polymorphism at least has a functional property. Oral zinc tolerance test of the NTD mother group with respect to carrying C or T alleles of the gene either in heterozygous or homozygous state revealed also a marked difference at the third hour (p < 0.007) between the carriers of CC and TT. Despite extensive study, the genetic risk factors for SB are incompletely understood. So, in some of the mothers, especially in regions with low diet zinc content, zinc deficiency should be considered.

Original languageEnglish (US)
Pages (from-to)266-269
Number of pages4
JournalTrace Elements and Electrolytes
Volume23
Issue number4
StatePublished - Dec 2006
Externally publishedYes

Keywords

  • Neural tube defects
  • SLC30A4
  • Zinc
  • ZNT4

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology

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    Akar, N., Akar, E., Araç, B., Ulu, A., & Ekim, M. (2006). Does SLC30A4 (ZNT4) gene exon 5 915 T-C alteration play a role in neural tube defects? Trace Elements and Electrolytes, 23(4), 266-269.