CYP17A1 rs743572 polymorphism might contribute to endometriosis susceptibility

Abstract

This case–control study was aimed to evaluate the influence of cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene rs743572 polymorphism for the susceptibility to endometriosis.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype rs743572 polymorphism in 143 endometriosis patients and 148 healthy controls. Hardy–Weinberg equilibrium (HWE) test was utilized to detect the representativeness of the study subjects. Association strength was presented by odds ratios (ORs) with corresponding 95% confidence intervals (CIs).Genotype distribution of rs743572 polymorphism was conformed to HWE test both in case and control groups, revealing the good representativeness of our study subjects. Significantly positive association was discovered between rs743572 TT genotype and endometriosis susceptibility (P = .042, OR = 1.952, 95% CI = 1.020–3.736). Rs743572 T allele was more frequently discovered in cases than that in controls, revealing the enhanced susceptibility to endometriosis (P = .041, OR = 1.407, 95% CI = 1.014–1.951). Confounding factors (age and body mass index) were utilized to adjust the results, and then we found that the association strength had no significant changes (TT vs CC, P = .039, OR = 1.961, 95% CI = 1.023–3.742; T vs C, P = .038, OR = 1.413, 95% CI = 1.016–1.957). But we failed to find any obvious association of rs743572 genotypes with endometriosis stages and characteristics.T allele of rs743572 polymorphism might act as a risk factor for endometriosis, although it had no effects on the disease stages and basic features.

Defining the genetic profile of endometriosis (Review)

“…In a case control study of Iraqi women from 23 to 46 years of age, a significant association was noted between endometriosis and specific SNPs of the CYP17 gene, with homozygous genotypes being associated with a diminished disease risk (60). In a case-control study, patients homozygous for the CYP17A1 C allele of the rs743572 SNP were associated with a markedly increased risk of leiomyoma (61); in particular, the CYP17A1 rs743572 genetic variation can also act as a potential risk factor for endometriosis, according to published data (62). In a case-control study of 143 patients, the presence of the rs743572 TT genotype of CYP17A1 appeared to constitute a risk factor for endometriosis, although it did not affect disease progression.…”

Polymorphisms in the 3 ′ UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis

“…Disorders at the level of the ESR2 and CYP19A1 gene expressions, observed in endometriosis as related to the types and sites of lesions, associated with the disease, are confirmed by world literature reports [14][15][16][17][18][19][20]. Several different studies are conducted in order to evaluate the risk of endometriosis in association with different genes polymorphism: CYP17A1, CYP19A1, ESR1, ESR2, PGR, HSD17B1, and HSD17B2 [21][22][23][24][25][26].…”

Research Article CYP2C19*3 polymorphism in patients with endometriosis

“…We found no association between the use of contraception and the CYP2C19*3 polymorphism. Two independent studies did not find any association between CYP polymorphisms and the use of contraception drugs (Dieudonné et al, 2014;Cong et al, 2018).…”