Vitamin D receptor polymorphism FokI is associated with spontaneous idiopathic preterm birth in an Israeli population.
OBJECTIVE
The active form of vitamin D (1,25[OH]2D3) has been established to have potent anti-proliferative, immuno-modulatory, and anti-microbial action in addition to its effects on bone. The nuclear vitamin D receptor (VDR) is expressed in the placenta-decidua, regulating genes associated with implantation and implantation immuno-tolerance. If VDR polymorphisms regulate VDR functionality at the placenta-decidua interface, VDR genotypes may be involved in idiopathic preterm birth (PTB).


METHODS
Maternal and fetal (umbilical cord) blood samples from 33 Jewish and Arab mothers with PTB of a singleton neonate were compared to 98 samples from Jewish and Arab maternal and fetal blood samples from full-term, uncomplicated singleton births. Maternal age and ethnicity were comparable between groups. PCR amplification/digestion identified the VDR SNPs: FokI, ApaI, TaqI, and BsmI.


RESULTS
Allele frequency for the FokI VDR in maternal blood samples from preterm births (but not umbilical cord samples) was significantly different (p=0.01) from that in maternal and umbilical cord blood samples from full-term singleton births, with an odds ratio for FokI carriers of 3.317 (95% CI, 1.143, 9.627) for preterm birth. The FokI VDR variant may therefore be a maternal risk trait for PTB among these women.


CONCLUSIONS
This study may support a future platform for the study of vitamin D during pregnancy and treatment of selective target populations with vitamin D and/or VDR "tissue-specific therapeutic intervention" for prevention of PTB.
Department of Obstetrics and Gynecology, 12 Bayit Street, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Lauren
L
Manzon
Department of Genetics Unit, Shaare Zedek Medical Center, Jerusalem Israel.
Gheona
G
Altarescu
Department of Obstetrics and Gynecology, 12 Bayit Street, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Aharon
A
Tevet
Department of Neonatology, Shaare Zedek Medical Center, Jerusalem Israel.
Michael S
MS
Schimmel
Department of Obstetrics and Gynecology, 12 Bayit Street, Shaare Zedek Medical Center, Jerusalem 91031, Israel. Electronic address: elstein@szmc.org.il.
Deborah
D
Elstein
Department of Obstetrics and Gynecology, 12 Bayit Street, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Arnon
A
Samueloff
Department of Obstetrics and Gynecology, 12 Bayit Street, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Sorina
S
Grisaru-Granovsky
D000328:Adult; D018912:Arabs / Q000235:genetics; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth / Q000097:blood / Q000235:genetics*; D011446:Prospective Studies; D018167:Receptors, Calcitriol / Q000235:genetics*; D047929:Term Birth / Q000097:blood / Q000235:genetics*
D018167:Receptors, Calcitriol; D004247:DNA
Placenta-decidua; Preterm birth; VDR polymorphisms; Vitamin D; Vitamin D receptor (VDR)