Open AccessAnalysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family
Author(s) -
Wu Dawen,
Zhong Zhanghua,
Chen Yunfei,
Ding Haibo,
Yang Minxia,
Lian Ningfang,
Huang Zhigui,
Zhang Qiaoxian,
Zhao Jianming,
Deng Chaosheng
Publication year - 2019
Publication title -
the clinical respiratory journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.789
H-Index - 33
eISSN - 1752-699X
pISSN - 1752-6981
DOI - 10.1111/crj.13055
Subject(s) - linkage disequilibrium , single nucleotide polymorphism , genetics , haplotype , minor allele frequency , thrombophilia , international hapmap project , allele frequency , tag snp , genetic association , allele , medicine , biology , genotype , gene , pregnancy
Objective The 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.Methods DNA were extracted from blood of participants. Five PROC SNPs and 11 PROS1 SNPs 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. Results MAFs 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 the PROC and PROS SNPs. Conclusions Single nucleotide polymorphisms (SNPs) of PROC and PROS1 may 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 between PROC and PROS1 SNPs. We found that 12 haplotypes were in linkage disequilibrium, but linkage disequilibrium was strong in only eight of these (frequency >5%).