细胞色素P450氧化酶基因MSP1位点多态性与早产的关联性研究

Association of cytochrome P450 gene MSP1 polymorphism and risk of preterm delivery

目的：探讨早产与母、婴细胞色素 P450氧化酶基因(CYPIAI)MSPI 位点多态性的关系 方法：于1999年到2001年，采用病例对照及核心家系的研究设计，在安徽省安庆市调查了496个核心家系，包括247个正常孕周出生的核心家系(对照核心家系)和249个早产中核心家系 采用盐沉淀法提取基因组 DNA，通过聚合酶链式反应(PCR)对细胞色素 P450氧化酶基因 MSPI 位点进行基因型签定 采用对数-线性回归模型(log-Iinear model)分析母亲和婴儿 CYPIAI 基因 MSPI 位点多态性与早产的关联 观察母亲与婴儿 CYPIAI 基因之间的联合作用是否对早产有影响，并采用 TDT 方法检验早产对照核心家系 CYPIAI 基因 MSPI 位点、等位基因传递是否平衡。结果：婴儿 CYPIAI 基因 C/C6235基因型能明显增加早产的发生危险性(RR=1.80，95%CI=1.02～3.18)。同时，我们也发现母亲 CYPIAI 基因 C/C6235基因型对早产有显著影响(RR=1.82，95%CI=1.11～2.98)。母亲与婴儿CYPIAI 基因之间无明显联合作用存在 对照核心家系 CYPIAI 基因 MSPI 突变等位基因传递符合孟德尔遗传规律。结论：婴儿 CYPIAI 基因 C/C6235基因型和母亲 C/C6235基因型均能够明显增加早产发生风险，在早产核心家系中 CYPIAI 基因 MSOI 突变等位基因传递不符合孟德尔遗传规律。

Objective:To investigate the association of cytochrome p450 gene(CYP1A1)MSP1 poly-morphisms with preterm delivery.Methods:Between July 1999 and June 2001,we conducted a ease-control study using infant-parent triads including 247 families with full-term infants and 249 families withpreterm delivery infants in Anqing,China.We extracted DNA from umbilical cord blood of the infantsand vein blood of their parents,and perfnrmed PCR followed by restriction enzyme Msp Ⅰ digestion forgenotyping the CYP1A1 gene MSP1 polymorphism.We used log-linear modeling to analyze the associationof CYP1A1 gene polymorphism with the risk of preterm delivery.Results:CYP1A1 gene C/C6235 in-creased the risk of preterm delivery both in infants(RR=1.80,95% CI=1.02-3.18)and in theirmothers(RR=1.82,95% CI=1.11-2.98)significantly.There was no interaction between mothers'and children's CYP1A1 MSP1 genotypes.The variant alleles of CYP1A1 MSP1 of control triads accordedwith Mendelian transmissions.Conclusion:Both infant and maternal CYP1A1 C/C6235 genotype bothcan increase the risk of preterm delivery in our study population,which suggests a possible role of humancytochrome P450 variability in the etiology of preterm delivery.