ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of coagulation factor V gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou area.</p><p><b>METHODS</b>Ninety-six patients with URSA and 103 females with a history of normal pregnancy were recruited. Genotypes of coagulation factor V gene were determined through target sequence capture and high-throughput sequencing. The results were confirmed with a MassARRAY system. Allelic and genotypic frequencies between the two groups were compared.</p><p><b>RESULTS</b>Nineteen single nucleotide polymorphism (SNPs), except coagulation factor V Leiden, were identified in the two groups. The frequencies of rs9287090 allele A, rs1046712 allele T and rs1800594 allele G of the URSA group were lower than those of the control group (6.77% vs. 16.50%, 3.12% vs. 13.11%, 10.94% vs. 18.45%, respectively). After Bonferroni and false discovery rate correction, rs9287090 and rs1046712 were significantly associated with URSA (corrected P<0.05). Although genotypic distribution of rs9287090 and rs1046712 also differed between the two groups, the corrected P value showed no significance (corrected P>0.05). A complete linkage disequilibrium (r=1, D'=1) of rs6022 and rs6029 was observed for the haplotype block rs6022-rs6029-rs6028. The frequencies of rs6022 allele A and rs6029 allele T were higher in the URSA group with corrected insignificance (75.00% vs. 65.53%, corrected P>0.05). Furthermore, significantly more A-T-T haplotype was found in the URSA group (75.00% vs. 65.50%, OR=1.578, 95%CI:1.021-2.438, χ=4.248, P<0.05).</p><p><b>CONCLUSION</b>The decreased rate of rs9287090 allele A, rs1046712 allele T, and rs1800594 allele G may contribute to the susceptibility to URSA among ethnic Han Chinese from Wenzhou area. The rs6022 allele A and rs6029 allele T may also predispose to URSA.</p>
ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of human leukocyte antigen DQ gene polymorphisms with unexplained recurrent spontaneous abortion (URSA) among ethnic Han Chinese from Wenzhou region.</p><p><b>METHODS</b>Fifty couples with URSA (URSA group) and 66 couples with normal pregnancy history (control group) were recruited. The alleles of HLA-DQA1 and HLA-DQB1 were analyzed by polymerase chain reaction with specific sequence primers (PCR-SSP) in all subjects. The frequency distribution of HLA-DQ alleles, odds ratios (OR) between each group and sharing of HLA-DQ alleles were calculated.</p><p><b>RESULTS</b>The frequency distribution of HLA-DQB1*03:03 allele in the females with URSA was significantly higher than that healthy females (21.00% vs. 9.85%, OR=2.433, 95%CI: 1.232-4.894, χ(2)=5.657, P<0.05). The HLA-DQB1*05:03 allele was present among the healthy females with a frequency of 3.03%, and was not detected among females with URSA. For both males and females, the HLA-DQB1*05:02 allele were only typed in control group with frequencies of 6.06% and 5.30%, respectively. The sharing of HLA-DQA1 alleles in couples with URSA was increased compared with the control group (70.27% vs. 44.64%, OR=2.931, 95%CI: 1.216-7.067, P<0.05).</p><p><b>CONCLUSION</b>The increased sharing of HLA-DQA1 alleles may contribute to the susceptibility of URSA among ethnic Han Chinese from Wenzhou region. The allele of HLA-DQB1*03:03 in the females may be predisposing factor for URSA. However, the HLA-DQB1*05:02 allele in both gender and HLA-DQB1*05:03 allele in females may confer a protective effect.</p>