南方医科大学学报

南方医科大学学报 ›› 2016, Vol. 36 ›› Issue (09): 1276-.

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汉族人群维生素D受体基因Fok I 多态性与特发性早产的相关性

蔡蔚，沈小雅，朱宝平，潘石蕾   

  • 出版日期:2016-09-20 发布日期:2016-09-20

Relationship between vitamin D receptor gene polymorphism and preterm birth

  • Online:2016-09-20 Published:2016-09-20

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摘要： 目的探讨维生素D受体（VDR）基因Fok I位点多态性与早产发生风险的相关性，为临床上治疗和预防先兆早产或早产发 生寻找新途径，改善母婴结局。方法纳入早产患者57例和足月妊娠分娩患者84例。VDR基因Fok I位点基因型采用聚合酶 链反应-限制性片断长度多态（PCR-RFLP）法检测基因多态性。结果早产组与足月妊娠分娩组在血细胞比容（HCT)、D-二聚 体、纤维蛋白原、血清钙、白细胞、糖化血红蛋白间未见明显差异（P>0.05）。早产组VDR基因Fok I基因型分布和F/f等位基因频 率与足月妊娠分娩组相比较，两者间的差异有统计学意义（P<0.05）。早产组中FF基因型频率明显高于足月组，以Ff和ff基因 型为对照，FF基因型发生早产的风险增加（χ2=9.701，P=0.002，OR=3.320，95% CI 1.560-7.066）。而早产组中，上述各临床指标 在不同基因型间并未存在明显统计学差异（P>0.05）。结论VDR基因Fok I位点多态性与早产遗传易感性相关，FF基因型可能 是早产发生潜在的高危因素。

Abstract: Objective To explore the relationship between vitamin D receptor (VDR) gene pol-ymorphisms at Fok I site and the risk of preterm birth for potential intervention of of preterm birth or threatened premature delivery. Methods Fifty-seven women with preterm birth and 84 with full-term birth were included in this analysis. Polymerase chain reaction-restriction frag-ment length polymorphism (PCR-RFLP) was performed to identify VDR gene Fok I geno-types. Results No significant difference was found in age, D-dimer (DDI), fibrinogen (Fg), serum calcium (Ca2 + ), leukocyte count or glycosylated hemoglobin (HbA1c) level between the women in the preterm and full-term birth groups (P>0.05). The two groups differed signifi-cantly in the distribution of VDR gene Fok I site genotypes and allele frequency of F/F (P<0.05).The frequency of FF genotype was significantly higher in the preterm group than in the full-term group. Compared with Ff and ff genotypes, FF genotype was associated with an in-creased risk of preterm delivery (χ2=9.701, P=9.701, OR=3.320, 95% CI [1.560, 7.066]). In the preterm group, the maternal age, DDI, Fg, serum Ca2 + , leukocyte count or HbA1c did not differ significantly between the genotypes (P>0.05). Conclusion VDR gene Fok I site geno-types are related with preterm birth, and the FF genotype may serve as a potential risk factor for preterm birth.