Relationship Between Polymorphisms Of MUC2 Gene And Endometriosis Susceptibility

Objectives Endometriosis(EMs) is one of chronic disease of gynaecology, and usually occurs in women during the reproductive years, which seriously imparied women’s reproductive health and quality of life. The mechanism of endometriosis still remains unclear. To study the relationship between MUC2 gene polymorphism and EMs, some facrors were strictly controlled, such as age, nationality, region, family history, this research may be offered the theory basis, that will be not only applied to EMs gene diagnosis drug treatment, but also provided reference for EMs’ clinical prognosis estimation.Methods 1 We used Case-control study method for the research.Patients diagnosed as endometriosis(EMs) from Tangshan worker’s hospital and borned in September 2012 to March 2014. The people borned at the same gestation age are taken as control group.Under the condtion of patients’ informed consent, cases’ ovarian ectopic endometrial tissue and the control group of normal endometrium were preserved for the research. 2 DNA extracted by chloroform extraction. 3 The genetic polymorphisms of rs377198521A/G,rs11245936A/G, rs10794288C/T, rs10902088C/T were analysed with polymerase chain. 4To test whether frequency distribution in each site genotype of MUC2 is representative through the Hardy-Weinberg principle. 5 The analysis of dates used software SPSS 17.0.The Hardy-Weinberg balance law was determined by c2 test. T test and Non parametric test were used to detect the difference between EMs and control groups.Results 1 The average age of EMs group is(36.90±8.35), The average age of the control group is(37.48±8.12).The difference in age between case group and control group were accord with normal distribution, have no statistically significant(P>0.05). The peripheral blood CA 125 level in EMs group was higher than the control group’s(P<0.05). Patients with endometriosis ARSM stage and peripheral blood CA125 levels have a positive correlation. 2 The rs377198521A/G, rs11245936A/G, rs10794288C/T genotype frequencies in control group and EMs group were no significant difference(P > 0.05). The rs10794288C/T frequencies of C allele in EMs group were 43.7% versus 49.8% in control group,both had significant difference(P < 0.05). The rs10902088C/T frequencies of CC,CT and TT genotypes in EMs group were 34.0%, 51.3% and 14.7% versus 28.8%, 49.0%and 22.2% in control group, both had significant difference(P<0.05, OR=1.79, 95%CI:1.12-2.88). The T allele frequencies of rs10902088C/T in EMs group is higher than the control group(P<0.05). 3 The haplotype of SNPs associated with EMs in MUC2 analysis diaplay significantly differences between the familiar haplotypes(T-C and C-T) and EMs(P < 0.05). 4 The T allele and TT genotype at rs10794288C/T, the C allele and CC genotype at rs10902088C/T were significantly related to clinical stage Ⅲ and Ⅳ of endometriosis(P<0.05). EMs group was compared with control group that the genotype frequencies of rs377198521A/G and rs11245936A/G had no significant difference(P >0.05). 5 The TT genotype frequencies and T allele frequencies at rs10794288C/T in moderate pain of EMs group were higher than those in mild, severe pain and the control group(P<0.05). The CT genotype frequencies and C allele frequencies at rs10902088C/T in severe pain of EMs group were higher than those in mild, moderate pain and the control group(P<0.05). 6 The genetic polymorphisms of rs10902088C/T and rs10794288C/T compared with CA125 level, have no significant difference(P>0.05).Conclusions 1 The level of CA125 in EMs group was obviously higher than that in control group; CA125 was positive correlation with ASRM clinical staging. 2 The genetic polymorphisms of MUC2 were correlation with the development of endometriosis. The T allele at rs10794288C/T, the C allele and CC genotype at rs10902088C/T are increased the risk of EMs. 3 Two common haplotype(rs10794288C/T T-C and rs10902088C/T C-T)was associated with a significant development of endometriosis. 4 The genetic polymorphisms of rs10794288C/T and rs10902088C/T were significantly related to clinical stage and the pain degree of endometriosis, it is an important factor of algogenesis.The genotypes of rs10902088C/T and rs10794288C/T in EMs group have no correlation with the changes of serum CA125.