Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family
Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family
复制标题
血栓形成倾向家族的 PROC 和 PROS1 单核苷酸多态性分析
DOI：
10.1111/crj.13055
复制
发表时间：
2019-07-29
影响因子：
1.7
通讯作者：
Deng，Chaosheng
中科院分区：
文献类型：
--
作者：
Wu，Dawen;Zhong，Zhanghua;Deng，Chaosheng
ObjectiveThe aim of this study was to assess the association of single nucleotide polymorphisms (SNPs) in protein C (PROC) and protein S (PROS1) genes with deep venous thrombosis (DVT) in a thrombophilia family.MethodsDNA were extracted from blood of participants. FivePROCSNPs and 11PROS1SNPs were selected from the Hapmap and 1000 Genomes databases. The minor allele frequencies (MAFs) of SNPs in the thrombophilia family (Group I) and healthy controls (Group II) were detected. SNPs were analysed by Chi‐square, logistic regression and linkage disequilibrium patterns.ResultsMAFs for all 16 SNPs were greater than 0.05. Chi‐square analysis showed significant differences between Group I and Group II in the frequency of mutant alleles of rs1799808, rs5936, rs6123, rs12634349, rs6441600 and rs13062355 SNPs (P< .05). Logistic regression analysis found that mutant alleles of rs1799808, rs6441600 and rs13062355 SNPs may contribute to DVT in this family (OR> 1, L95 > 1). Linkage disequilibrium was found among 15 of thePROCandPROSSNPs.ConclusionsSingle nucleotide polymorphisms (SNPs) ofPROCandPROS1may be closely associated with DVT in this thrombophilia family. Mutant alleles of rs1799808, rs6441600 and rs13062355 SNPs may contribute to DVT, whereas mutant alleles of rs1799810, rs6123 and rs12634349 may protect individuals from DVT. With the exception of rs9681204, there was linkage disequilibrium betweenPROCandPROS1SNPs. We found that 12 haplotypes were in linkage disequilibrium, but linkage disequilibrium was strong in only eight of these (frequency >5%).
