Gašparović Krpina Milena, Barišić Anita, Peterlin Ana, Tul Nataša, Ostojić Saša, Peterlin Borut, Pereza Nina
Nina Pereza, Faculty of Medicine University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia,
Croat Med J. 2020 Aug 31;61(4):338-345. doi: 10.3325/cmj.2020.61.338.
To evaluate the association between the FokI (rs2228570), ApaI (rs7975232), Bsml (rs1544410), TaqI (rs 731236), and Cdx2 (rs11568820) single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gene and spontaneous preterm birth (SPTB), as well as their effect on clinical characteristics of women with SPTB and their newborns.
This case-control study enrolled women who gave birth at the Department of Obstetrics and Gynecology, University Medical Center Ljubljana between 2010 to 2019. Cases were 118 women with spontaneous initiation of PTB after natural conception and 119 controls with a term singleton delivery after an uncomplicated pregnancy. The molecular analysis of VDR SNPs employed polymerase chain reaction and restriction fragment length polymorphism.
Patients and controls did not significantly differ in the distribution of genotype or allele SNP frequencies. However, the FokI polymorphism had a significant effect on newborn birth weight in women with SPTB but not in controls (F=5.17, P=0.007, one-way ANOVA with post-hoc Scheffe test), with newborns of FokI TT carriers having the lowest birth weight (P=0.011). No other VDR SNP was associated with any other clinical characteristic of women with SPTB and their newborns.
The TT genotype of the VDR FokI polymorphism is associated with newborn birth weight in women of European origin with SPTB.
评估维生素D受体（VDR）基因中的FokI（rs2228570）、ApaI（rs7975232）、Bsml（rs1544410）、TaqI（rs 731236）和Cdx2（rs11568820）单核苷酸多态性（SNP）与自发性早产（SPTB）之间的关联，以及它们对SPTB女性及其新生儿临床特征的影响。
本病例对照研究纳入了2010年至2019年在卢布尔雅那大学医学中心妇产科分娩的女性。病例为118例自然受孕后自发开始PTB的女性，对照为119例妊娠无并发症后足月单胎分娩的女性。VDR SNPs的分子分析采用聚合酶链反应和限制性片段长度多态性。
患者和对照在基因型或等位基因SNP频率分布上无显著差异。然而，FokI多态性对SPTB女性的新生儿出生体重有显著影响，但对对照无影响（F = 5.17，P = 0.007，采用事后Scheffe检验的单因素方差分析），FokI TT携带者的新生儿出生体重最低（P = 0.011）。没有其他VDR SNP与SPTB女性及其新生儿的任何其他临床特征相关。
VDR FokI多态性的TT基因型与欧洲裔SPTB女性的新生儿出生体重相关。
