山东汉族人群ADD2基因rs3755351位点单核苷酸多态性与重度子痫前期遗传易感性的关系

RELATIONSHIP BETWEEN SINGLE NUCLEOTIDE POLYMORPHISM AT RS3755351 IN ADD2 GENE AND GENETIC SUSCEPTIBILITY TO SEVERE PREECLAMPSIA IN HAN POPULATION OF SHANDONG PROVINCE,CHINA

目的研究山东汉族人群内收蛋白2(ADD2)基因rs3755351位点单核苷酸多态性与重度子痫前期遗传易感性的关系。方法选取山东地区1184例重度子痫前期病人(病例组)和1421例健康对照者(对照组)作为研究对象,将病例组病人进一步分为早发型重度子痫前期(EOSP)和晚发型重度子痫前期(LOSP)两个亚组。提取外周血DNA,采用TaqMan探针PCR技术检测ADD2基因rs3755351位点基因型分布和等位基因频率。结果病例组ADD2基因rs3755351位点AA、AC、CC基因型的频率分别为10.81%、43.67%和45.52%,A、C等位基因的频率分别为32.64%和67.36%,与对照组相比,差异均无统计学意义(P>0.05)。EOSP组与对照组相比较,rs3755351位点的等位基因频率差异有显著性(χ^(2)=6.394,P<0.05),但基因型频率差异无统计学意义(P>0.05)。EOSP组与LOSP组、LOSP组与对照组比较,rs3755351位点的基因型和等位基因频率差异均无统计学意义(P>0.05)。结论山东汉族人群ADD2基因rs3755351位点的单核苷酸多态性可能与子痫前期的严重程度有关,该基因是EOSP的易感基因之一。

Objective To study the relationship between single nucleotide polymorphism at rs3755351 in the beta-adducin gene(ADD2)and genetic susceptibility to severe preeclampsia in the Han population of Shandong province,China.Methods A total of 1184 patients with severe preeclampsia(case group)and 1421 healthy controls(control group)from Shandong province were included.The case group was further divided into early-onset severe preeclampsia(EOSP)and late-onset severe preeclampsia(LOSP)subgroups.DNA was extracted from peripheral blood.TaqMan PCR was used to analyze the genotype and allele frequencies at rs3755351 in the ADD2 gene.Results In the case group,the frequencies of AA,AC,and CC genotypes at rs3755351 in the ADD2 gene were 10.81%,43.67%,and 45.52%,respectively,and the frequencies of alleles A and C were 32.64%and 67.36%,respectively,with no significant differences from those in the control group(P>0.05).The EOSP group differed significantly from the control group in the allele frequency of rs3755351(χ2=6.394,P<0.05),but not in the genotype frequency(P>0.05).There were no significant differences in the genotype and allele frequencies of rs3755351 between the EOSP and LOSP groups,nor between the LOSP and control groups.Conclusion The single nucleotide polymorphism at rs3755351 in the ADD2 gene may be related to the severity of preeclampsia among the Shandong Han population.This gene is a susceptibility gene for EOSP.