Study On The Relationship Between AURKC Gene Polymorphism And Teratozoospermia

Objective: To study the relationship between rs1008073,rs11084490 and rs2302060 polymorphism of Aurora kinase C(AURKC)gene and the risk of teratozoospermia,and the effect of AURKC gene on the expression of AURKC protein in seminal plasma,so as to provide reference for clinical diagnosis and genetic consultation of patients with teratozoospermia.Methods:(1)By case-control study,the subjects were 200 patients with abnormal sperm morphology as the teratozoospermia group(case group),and 200 healthy men with normal sperm morphology as the control group.(2)Multiple single base extension PCR was used to detect the polymorphism of AURKC gene.(3)The level of AURKC protein in seminal plasma was detected by enzyme-linked immunosorbent assay.(4)The correlation between polymorphisms of loci and teratozoospermia and the expression of proteins were analyzed by using statistical software.Results:(1)There are three genotypes at rs1008073 of AURKC gene: GG,GC and CC,in the control group,the gene frequencies were 11.00%,46.50% and 42.50% respectively,and in the teratozoospermia group,6.00%,42.50% and 51.50% respectively;There are GG,GC and CC genotypes in rs11084490,in the control group,the genotype frequency was 2.00%,37.00%,61.00%,and in the teratozoospermia group,it was 3.00%,24.00%,73.00%,respectively;TT,CT and CC genotypes were found at rs2302060,in the control group,the genotype frequencies were 43.00%,46.00% and 11.00% respectively,and in the teratozoospermia group,they were 51.50%,42.50% and 6.00% respectively.(2)In the rs11084490 locus,GC and GC/GG genotypes were associated with the risk ofteratozoospermia(GC vs.CC: OR=1.863,95%CI=1.199-2.893,P=0.006;GC/GG vs.CC:OR=1.757,95%CI=1.147-2.693;P=0.010);Compared with the C allele of rs11084490,the G allele of rs11084490 is associated with the risk of teratozoospermia(OR=1.498,95%CI=1.033-2.171,P=0.033).(3)there was no significant difference in genotype and allele frequencies between rs1008073 and rs2302060 loci between the two groups(P>0.05).(4)Haploid analysis results: the population with C-C-T haplotype may increase the risk of teratozoospermia(C-C-T: OR=1.370;95% CI=0.760-1.130;P=0.041);while the population with G-G-C haplotype may reduce the risk of teratozoospermia(G-G-C: OR=0.666;95%CI=0.600-1.090;P=0.031).(5)The concentration of AURKC protein in the seminal plasma of patients with teratozoospermia was significantly lower than that of the control group(P<0.001).(6)The concentration of AURKC seminal plasma protein in GC/GG genotype at rs11084490 of AURKC gene was significantly lower than that in CC genotype(P<0.001).Conclusion:(1)GC and GC/GG genotypes and G alleles at rs11084490 locus may increase the risk of teratozoospermia.(2)There is a strong linkage imbalance between rs1008073,rs11084490 and rs23020603.People with C-C-T haplotypes may increase the risk of teratozoospermia,while people with G-G-C haplotypes may reduce the risk of teratozoospermia.(3)The concentration of AURKC protein in the seminal plasma of patients with teratozoospermia was significantly lower than that of the control group,and the concentration of AURKC protein in the seminal plasma of patients with GC/GG genotype of rs11084490 locus was significantly lower than that of patients with CC genotype.