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Scripta Scientifica Pharmaceutica


Talya Rosenfeld, Hagit Salem, Gheona Altarescu, Sorina Grisaru-Granovsky, Aharon Tevet, Ruth Birk


Aim: Preterm birth (PTB) is a complex trait with strong genetic background, whose etiology is not fully understood. It was recently suggested that pregnancy duration is affected by fetal genetic variation even more than by the maternal genome. Vitamin D receptor (VDR) is involved in embryonic implantation and fertility. We studied the association between both maternal and neonatal vitamin D receptor (VDR) genetic variation and PTB.

Materials and Methods: Maternal and fetal (umbilical cord) DNA was isolated from Jewish Israeli idiopathic preterm newborns (24-36 weeks, n=146) and control term newborns (>37 weeks, n=229). Maternal and fetal VDR polymorphisms (FokI, ApaI, BsmI, TaqI) were analyzed by restriction fragment length polymorphism analysis. We have used SPSS analysis in order to determine the correlation between VDR genotypes and phenotypic variation: pregnancy duration, preterm birth and spontaneous miscarriages, adjusted for gravidity, parity and gender of newborn.

Results: Women homozygous to VDR ApaI (AA) genotype had significant twofold increase risk for PTB (OR=1.973, [CI] 1.183-3.289, p=0.009) compared to heterozygous women. Male newborns had significant (p<0.05) 1.73 fold increase of PTB. Women with history of previous (≥1) spontaneous miscarriage had a significantly increased risk for PTB if their newborn carried either of the VDR BsmI homozygous (BB or bb) genotypes compared to the heterozygous (Bb) genotype (OR=6.857,[CI] 1.273-36.934, p=0.018 and OR=9.231,[CI] 1.753-48.618, p= 0.008, respectively), or VDR ApaI homozygous (AA or aa) genotype compared to heterozygous (Aa) genotype (OR=4.33, [CI] 1.029-18.257, p= 0.046 and OR=7.2, [CI] 1.34-38.917, p=0.021, respectively).

Conclusion: We have shown the association between maternal and fetal VDR genotype variants with PTB.



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About The Authors

Talya Rosenfeld

Hagit Salem

Gheona Altarescu

Sorina Grisaru-Granovsky

Aharon Tevet

Ruth Birk

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