An aromatase encoded by the CYP19 gene catalyzes the final step in the biosynthesis of estrogens, which is related to endometriosis development. To assess the association of CYP19 gene polymorphisms with the risks of endometriosis, chocolate cysts and endometriosis-related infertility, a case-control study was conducted in Chinese Han women by recruiting 225 healthy control females, 146 patients with endometriosis, 94 endometriosis women with chocolate cyst and 65 women with infertility resulting from endometriosis, as diagnosed by both pathological and laparoscopic findings. Individual genotypes at rs2236722:T>C, rs700518:A>G, rs10046:T>C and [TTTA]n polymorphisms were identified. Allelic and genotypic frequencies were compared between the control group and case groups by chi-square analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were determined by logistic regression analysis to predict the association of CYP19 gene polymorphisms with the risk of endometriosis, the related chocolate cysts and infertility. The genotype distributions of the tested CYP19 gene polymorphisms were not significantly different between the healthy control group and the endometriosis/endometriosis with the chocolate cyst group. However, the CYP19 rs700518AA genotype was significantly associated with an increased risk of endometriosis-related infertility (55.4% in the infertility group vs 25.3% in the control group, P<0.001; OR (95% CI): 3.66 (2.06-6.50)) under the recessive form of the A allele. Therefore, we concluded that in Chinese Han females CYP19 gene polymorphisms are not associated with susceptibility to endometriosis or chocolate cysts, whereas CYP19 rs700518AA genotype confers genetic susceptibility to endometriosis-related infertility.
Adult ; Aromatase/*genetics ; Case-Control Studies ; China ; Endometriosis/complications/*genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Infertility, Female/complications/*genetics ; Middle Aged ; *Polymorphism, Single Nucleotide

Objective:To provide useful information for in-depth understanding of the epidemic and molecular evolution of Coxsackievirus A4 (CV-A4), the genetic characteristics of the complete genome and recombination events in some genome regions of CV-A4 strain isolated from a patient with severe hand, foot and mouth disease (HFMD) in Yunnan province were analyzed.Methods:The CV-A4 strain was isolated from feces using RD, KMB17 and A549 cells respectively, and the viral RNA was extracted from the supernatant with CPE. The whole VP1 and complete genome sequences of the virus were amplified by RT-PCR and sequenced through Sanger’s sequencing. Complete genome sequence and genome regions of the isolated virus were analyzed through MEGA7.0 and SimPlot 3.5.1 software.Results:The virus isolated from RD cells belonged to CV-A4 and was designated as R11-20/YN/CHN/2011 strain. This CV-A4 strain was C2 sub-genotype through phylogenetic analysis based on the VP1 sequence. CV-A4 R11-20/YN/CHN/2011 has the highest nucleotide sequence identity with 09214/SD/CHN/2009 in VP1 and CVA4/SZ/CHN/09 in the complete genome. Recombination occurred between CV-A4 R11-20/YN/CHN/2011 and EV-A71 in 3D region.Conclusions:The CV-A4 R11-20/YN/CHN/2011 strain belongs to C2 sub-genotype and recombines with EV-A71 in 3D region.