| Objective: To investigate the correlation between three single-nuclear polymorphisms(SNPs) of CYP17gene，including rs743572，rs6162and rs6163and the relationship of SNPs,and recurrent spontaneous abortion (RSA) in Chinese women. By compare genotypedistribution and allele frequency between the patient of recurrent spontaneous abortion (RSA)and normal pregnancy women, to approach the relationship about the haplotype of three SNPsof the CYP17gene with RSA.Methods: Our study was constructed with a Case-control study.160patients of RSA wererecruited from Ningxia medical university genetic laboratory as case group.169normalpregnancy women from Maternal and Child Health Hospital were as control group, whichaverage age marched with case group. Polymerase chain reaction and pyrosequencing wereperformed to genotype with respect to SNPs of CYP17:rs743572, rs6162, rs6163. Thestatistical analysis included chi-square test and SPSS16.0software was used to analyze thedata and calculated the distribution of genotype and frequency of allele. Hardy-Weinbergbalance, linkage disequilibrium and haplotype analyzed by using software Haploview.Results:1. The genotype distribution of the3SNPs in CYP17gene reachedHardy-Weinberg equilibrium indicated that the population in present study was selectedrandomly.2. We observed that there were all no significant differences in allele and genotypefrequencies of three SNPs (rs743572, rs6162and rs6163) in CYP17between womendiagnosed with RSA and controls (P>0.05)). Dominance genotype model and recessive genotype model of three SNPs (rs743572, rs6162and rs6163) in CYP17also showed thatthere was no significant different in genotype frequencies between women diagnosed withRSA and controls (P>0.05)).3. Three SNPs of CYP17gene between rs743572and rs6162,rs6162and rs6163, rs743572and rs6163were the height of linkage disequilibrium (D’>0.7).4. Among the haplotype established by three SNPs with each other, there were eighteen kindsof haplotype frequencies in all, and there were eight kinds of haplotype frequencies>0.03,including T-C, G-T, T-T, G-C, T-C, C-T, T-T-C and G-C-T; The result of haplotype establishedby three SNPs in CYP17with each other (rs6163, rs6162and rs743572) found that there wereall no significant different between cases and controls (P>0.05)；Our result also found thathaplotype of three SNPs in CYP17(rs6163-rs6162-rs743572) were all no significant differentbetween cases and controls (P>0.05).Conclusions:1.There were no significant differences in genotype distribution and allelefrequencies of CYP17gene (rs743572, rs6162and rs6163) between cases and controls. Thesepolymorphisms locus may not associated with the susceptibility of RSA in Ningxia female.2.CYP17gene locus between the three SNPs, rs743572-rs6162, rs6162-rs6163, and rs743572-rs6163was the height of linkage disequilibrium.3. Each of haplotype frequencies in CYP17gene was no significantly different between cases and controls, the haplotype of three SNPs inCYP17gene may not associated with the susceptibility of RSA in Ningxia female. Objective：To evaluate the relationship between CYP17Gene rs743572(T→C）geneticpolymorphisms and recurrent spontaneous abortions risk by Meta analysis.Methods： By searching database including PubMed， CNKI，and CBM，we collectedliterature on CYP17Gene rs743572(T→C) single nucleotide polymorphisms and recurrentspontaneous abortions susceptibility．The odds ratios (OR) of variant allele of CYP17Geners743572(T/C) and publication bias was calculated using Review Manager5.2software．Results：A total of745cases and756controls were included in6studies．Our result ofdominance model (TT vs. CC+TC) showed that there was no significant difference betweencase and control with the random-effects model (I2=65%, OR=1.42，95%CI=0.96-2.10,P=0.08, Pheterogeneity=0.01). The result of recessive model (TT+TC vs.CC) showed that there wasno association with recurrent spontaneous abortions risk under random-effects model (I2=67%,OR=0.95,95%CI=0.60-1.53, P=0.85, Pheterogeneity=0.009).Conclusion: This Meta analysis suggested that CYP17gene polymorphism has noassociation with recurrent spontaneous abortions risk. |
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