SLC基因家族单核苷酸多态性与汉族孕产妇重度子痫前期易感性的关系

Association between molecular variants of SLC gene family and severe preeclampsia of pregnant women in Han nationality

目的探讨SLC基因家族单核苷酸多态性（single nucleotide polymorphisms,SNPs）与汉族孕产妇重度子痫前期易感性的相关性。方法选取2011年3月至2013年3月确诊的合并重度子痫前期孕产妇125例和健康孕产妇140例为研究对象,利用Mass ARRAY-IPLEX技术和基质辅助激光解吸电离飞行时间质谱平台（MALDI-TOF-MS）对SLC9A3、SLC4A1和SLCO4C1基因的4个SNPs位点进行基因分型。结果基因分型成功率为98.11%。与对照组相比,重度子痫前期组rs2074107的等位基因分布（χ^2=0.992,P=0.319）和基因型分布（χ^2=0.886,P=0.648）均无显著性差异。与对照组相比,重度子痫前期组rs2857078、rs4957061和rs10066650的等位基因分布（χ~2=7.720,P=0.005;χ^2=19.755,P=0.000;χ^2=15.078,P=0.000）和基因型分布（χ^2=6.608,P=0.037;χ^2=20.116,P=0.000;χ^2=12.026,P=0.002）均具有显著性差异,但进行Bonferroni校正后rs2857078位点的2组间基因型分布无显著性差异（Pc=0.074）,而rs4957061和rs10066650的2组间基因型分布均具有显著性差异（Pc=0.000,Pc=0.008）。与CC基因型相比,rs4957061的TT基因型显著增加重度子痫前期发生的危险性（P=0.001）,OR值（95%可信区间）为3.080（1.615~5.875）。如表3与TT基因型相比,rs10066650的GT和GG基因型均增加重度子痫前期发生的危险性（P=0.033,P=0.003）,OR值分别为1.938（1.050~3.577）和5.814（1.628~20.758）。结论 SLC9A3和SLCO4C1基因的单核苷酸多态性可能与重度子痫前期易感性有关。

This study constructed to investigate the association between single nucleotide polymorphisms（SNPs） of SLC gene family and severe preeclampsia of pregnant women in Han nationality. From March 2011 toMarch 2013, 125 severe preeclampsia of pregnant women in Han nationality diagnosed in Boai hospital ofZhongshan, and 140 healthy volunteers were recruited for the study. 4 locus of SLC9A3, SLC4A1 and SLCO4C1 gene were genotyped by Mass ARRAY-IPLEX technique and MALDI-TOF-MS, and the success rate of genotypingwas 98.11%. Compared with control group, there were no significant differences in allele frequency（ χ~2=0.992, P=0.319） and genotype frequency（ χ~2=0.886, P=0.648） of rs2074107 in severe preeclampsia group. Whereas, allelefrequency（ χ~2=7.720, P=0.005; χ~2=19.755, P=0.000; χ~2=15.078, P=0.000） and genotype frequency（ χ~2=6.608, P=0.037; χ~2=20.116, P=0.000; χ~2=12.026, P=0.002） of rs2857078 and rs4957061 and rs10066650 in severepreeclampsia group were significantly different, as compared with control group. After Bonferroni correction, therewas no significant difference（Pc=0.074） showed in genotype frequency of rs2857078, but still showed significantdifferences（Pc=0.000,Pc=0.008） in genotype frequency of rs495706 and rs10066650, respectively. Compared withgenotype CC, genotype TT of rs4957061 could significantly increase the risk of severe preeclampsia, with an oddsratio（95% confidence interval） of 3.080（1.615-5.875）; compared with genotype TT, genotype GT and GG ofrs10066650 could significantly increase the risk of severe preeclampsia, with odds ratios（95% confidence interval）of 1.938（1.050-3.577） and 5.814（1.628-20.758）,respectively. Taken together, these researchessuggested that SLC9A3 and SLCO4C1 maybe take partin the pathogenesis of severe preeclampsia of pregnant women in Han nationality.