论文部分内容阅读
目的探讨PRKCI基因单核苷酸多态性(SNP)与中国山西省神经管畸形(NTDs)发生的相关性。方法采用病例对照研究,利用MassARRAY分子量阵列分析平台,检测133例NTDs标本和135例非病理性胎儿标本PRKCI基因中17个标签SNPs的基因分型,分析其与NTDs发生的相关性。结果 17个SNPs位点中,16个的微效等位基因频率(MAF)与HapMap或dbSNP数据库的结果基本一致。除rs9876082外,其余SNPs位点的基因型分布和等位基因频率在病例组和对照组均无明显差异。rs9876082位点为纯合的微效等位基因A时,NTDs的发病率增加(P=0.035,比值比=2.135,95%可信区间=1.846-2.471),但是调整其它变量后进行logistic回归分析,这种相关性不再明显(P=0.057)。结论 PRKCI基因rs9876082位点与NTDs的发生有弱的相关性,这种相关性需进一步加大样本进行验证,PRKCI基因可能不是通过其SNPs影响NTDs的易感性。
Objective To investigate the association of PRKCI gene SNP with the occurrence of neural tube defects (NTDs) in Shanxi Province, China. Methods A case-control study was carried out. The genotyping of 17 tagged SNPs in PRKCI gene of 133 NTDs and 135 non-pathological fetuses was detected by MassARRAY molecular mass array analysis platform, and its correlation with NTDs was analyzed. Results Of the 17 SNPs loci, 16 of them had the same minor allele frequency (MAF) as that of HapMap or dbSNP database. Except for rs9876082, the genotype distribution and allele frequencies of other SNPs were not significantly different between the case group and the control group. The incidence of NTDs was increased when the rs9876082 site was homozygous for the minor allele A (P = 0.035, odds ratio = 2.135, 95% confidence interval = 1.846-2.471), but other variables were adjusted for logistic regression analysis , This correlation was no longer significant (P = 0.057). Conclusion There is a weak correlation between the rs9876082 locus of PRKCI gene and the occurrence of NTDs. This correlation needs to be further verified by a larger sample. PRKCI gene may not affect the susceptibility of NTDs through its SNPs.