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Vitamin D receptor polymorphisms in spontaneous preterm birth: a case-control study.

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The vitamin D receptor (VDR) FokI gene variant is linked to lower newborn birth weight in spontaneous preterm birth (SPTB) cases. This finding highlights a potential genetic influence on birth outcomes in SPTB pregnancies.

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Area of Science:

  • Genetics
  • Obstetrics
  • Perinatology

Background:

  • Spontaneous preterm birth (SPTB) is a leading cause of neonatal morbidity and mortality.
  • The vitamin D receptor (VDR) gene plays a crucial role in reproductive health and pregnancy outcomes.
  • Genetic variations in the VDR gene, including single nucleotide polymorphisms (SNPs), may influence SPTB risk and related clinical characteristics.

Purpose of the Study:

  • To investigate the association between common VDR gene SNPs (FokI, ApaI, Bsml, TaqI, Cdx2) and SPTB.
  • To evaluate the impact of these VDR SNPs on clinical features of mothers experiencing SPTB and their newborns.

Main Methods:

  • A case-control study involving 118 women with SPTB and 119 controls with term deliveries.
  • Genotyping of VDR SNPs (FokI, ApaI, Bsml, TaqI, Cdx2) using polymerase chain reaction and restriction fragment length polymorphism.
  • Statistical analysis including ANOVA to assess the effect of SNPs on clinical characteristics.

Main Results:

  • No significant differences in genotype or allele frequencies of the studied VDR SNPs were observed between SPTB cases and controls.
  • The FokI polymorphism (rs2228570) significantly affected newborn birth weight in SPTB cases, with TT genotype carriers having the lowest birth weight (P=0.011).
  • No other VDR SNPs were associated with clinical characteristics in SPTB mothers or their newborns.

Conclusions:

  • The TT genotype of the VDR FokI polymorphism is associated with reduced newborn birth weight in women of European origin experiencing SPTB.
  • This specific VDR gene variant may play a role in determining birth weight among infants born preterm spontaneously.