Influence of Apa1 (rs7975232), Taq1 (rs731236) and Bsm1 (rs154410) polymorphisms of vitamin D receptor on preterm birth risk in the Polish population

Abstract

Objectives: Vitamin D receptor (VDR) is expressed in the placenta and tissues related to the immune system occurrence of various variants of VDR may modify the effects of vitamin D on pregnancy.The aim of this study was to evaluate the association between the parturients' Apa1, Taq1, and Bsm1 polymorphisms of the VDR and their combinations and the risk of preterm birth in the Polish population. Material and methods:Determination of polymorphism for VDR was assayed using the RT-PCR method. 199 Caucasian women at childbirth were qualified:100 patients who had a spontaneous preterm birth and 99 patients who had a term birth.Results: Three separate genotypes of the Apa1, Taq1, and Bsm1 polymorphisms were detected. No significant differences in the frequency of particular genotypes in the compared groups were found. Some of the genotype combinations were significantly more frequent in the preterm group -the bb/AA/TT genotype (28.0% vs. 10.1%; p = 0.0013) and the BB/aa/tt genotype (14.0% vs. 4.04% p = 0.0277). The Bb/AA/Tt and the BB/Aa/tt genotypes were found only in the control group (16.1% and 7.0% of patients, respectively). The bb/aa/TT was significantly more frequent in the control group (2.0% vs. 11.1%; p = 0,0207). Two genotype combinations reduced the risk of preterm birth -the Bb/AA/Tt genotype by 94% (OR = 0.43, 95% CI: 0.002-0.885, p = 0.041) and the BB/Aa/tt genotype by 98% (OR = 0.029, 95% CI: 0.001-0.838, p = 0.039). Conclusions:Our result suggests that there may be a relationship between certain VDR genotype combinations and the risk of preterm birth. Further research is needed in order to substantiate this finding.

Single Nucleotide Polymorphisms in Vitamin D Receptor Gene Affect Birth Weight and the Risk of Preterm Birth: Results From the “Mamma & Bambino” Cohort and A Meta-Analysis

“…A total of 5 studies were from European countries [ 9 , 36 , 38 , 40 , 42 ], 4 from America [ 33 , 35 , 37 , 41 ], and 1 from Asia [ 34 ] and Australia [ 39 ], respectively. Overall, sample sizes ranged from 189 to 615 mothers and from 90 to 506 infants, respectively.…”

“…The major risk factors of PTB are certainly maternal age, short inter-pregnancy interval, multiple gestation, drug abuse, smoking, vaginal dysbiosis and infections, low maternal pre-pregnancy weight or inadequate gestational weight gain [ 5 , 6 , 7 , 8 ]. However, the effect of genetic susceptibility has been also well recognized [ 9 ], with novel fetal and maternal genomic variants which in turn affect both intrauterine environment, pregnancy duration and fetal growth [ 10 ]. It has been estimated that approximately 32 million low birth weight (LBW) or small for gestational age (SGA) infants are born annually, with 96.5% of them in developing countries [ 11 ].…”

“…The ligand-bound VDR forms a heterodimer with nuclear retinoid X receptor (RXR) [ 31 ], which recognizes vitamin D response elements (VDRE) in the promoter regions of vitamin D target genes and recruits co-factors to modulate gene transcription [ 32 ]. Recently, some studies proposed the potential association between VDR polymorphisms and the risk of adverse pregnancy outcomes, such as PTB, LBW and SGA births [ 9 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 ]. In this area of research, BsmI (rs1544410), ApaI (rs7975232), FokI (rs2228570) and TaqI (rs731236) polymorphisms are the most commonly investigated: while TaqI and FokI consist of a single base change (A to G and G to A in exons 9 and 2, respectively), BsmI and ApaI are located in the last intron of the sequence and result from a single base change (G to A and A to C, respectively).…”

Polymorphism in the vitamin D receptor gene is associated with maternal vitamin D concentration and neonatal outcomes: A Brazilian cohort study

“…This SNP was not analyzed in the present study. Similarly, another study involving 199 Polish infants and their mothers identified no association between TaqI, BsmI, and ApaI SNPs on preterm birth (Baczyńska‐Strzecha & Kalinka, ). That study observed that some combinations of alleles significantly reduced the risk of preterm birth, but not the genotypic profile.…”

Role of Placental VDR Expression and Function in Common Late Pregnancy Disorders

“…In addition, work from a polish group indicates that individual maternal SNPs of the VDR gene, namely the TaqI, BsmI and ApaI polymorphisms, had no effect on preterm birth. But they investigated some genotype combinations and e.g., some combinations reduced the risk for preterm birth significantly [ 174 ]. Polymorphisms of VDR , which are associated with pregnancy complications, are listed in Table 1 .…”