Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis

Abstract

A variety of factors affect the development of endometriosis, including hormonal status and genetic factors. The growth of endometriosis is stimulated by local estrogen production in conjunction with circulating estrogen. The CYP19 gene encodes a steroid aromatase that catalyses the conversion of C-19 androgens to estrogens. This study investigated whether polymorphisms of the CYP19 gene are associated with the risk of advanced endometriosis in Korean women. Blood samples were collected from 224 female patients with endometriosis of stages III and IV, as diagnosed by both pathologic and laparoscopic findings, and from a control group comprising of 188 women undergoing laparoscopic surgery or laparotomy for nonmalignant lesions. Single-nucleotide polymorphisms, restriction fragment length polymorphisms, and tetranucleotide tandem repeat polymorphisms were discriminated by the polymerase chain reaction (PCR). Haplotype analysis was also performed. CYP19 115T>C, 240G>A, and 1531C>T polymorphisms and [TTTA]n tetranucleotide repeat polymorphisms in the CYP19 gene and their haplotypes were not significantly associated with the risk of endometriosis. The risk of endometriosis also did not increase significantly with the number of higher risk alleles of the CYP19 gene. In conclusion, our findings suggest that CYP19 genetic polymorphisms are not associated with advanced-stage endometriosis in Korean women.

Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population

“…Kim et al 16 reported that the frequency of the low type, which means that the TTTA copy number was under 10, was 55.5% and that of the high type (TTTA copy number with over 10) was 44.5% in 102 Korean control subjects. The similar report in a Korean population 17 is described in Table 3. Although (TTTA) 8 was not detected, this allele was the third most frequent allele in Caucasian and African-American populations, occurring at B12.5 and 2.5%, respectively.…”

Polymorphism of Cytochrome P450, Superfamily19, Polypeptide 1 Gene and Related to Aromatase Enzyme Activity in Acromegaly Iraqi Patients

“…They observed could be explained by chance due to the number of analyses conducted and comparisons made; there are data to suggest that the chromosomal region 15q21.1, where CYP19A1 is located, may influence breast cancer progression [12]; likewise, the other studies by Kristensen et al showed that the examined CYP19 polymorphisms (rs700518: A>G,rs2236722: T>C, [TTTA]n repeat, and rs10046: T>C) were not significantly correlated with the hazard of infertility and endometriosis or endometriosis with ovarian chocolate cysts in Chinese women [16]. Many prior studies from Korean people [17], Japanese people [18], and Caucasian people [19], all of that showed no significant correlation of CYP19 gene polymorphisms with the hazard of chocolate cysts or endometriosis. The study by Hirose et al, [20] showed that in estrogen biosynthesis, the genetic polymorphisms (CYP19A1) are as well expected to affect the degradation or synthesis of estrogen, and then, lead to increase the breast cancer risk at codon 39 [21,22], the (rs2236722) polymorphism is created by the substitution of amino acids (Trp) with (Arg), while another study showed the Japanese women with the presence of these different alleles (Arg) lead to significantly decreased the developing of the breast cancer risk [23].…”

Association between CYP19A1, GSTM1, GSTT1, and GSTP1 genetic polymorphisms and the development of endometriosis in a Chinese population

“…CYP19A1 gene polymorphism is associated with reduced aromatase activity, which can lead to the development of endometriosis (Wang et al, 2010;Zaree et al, 2015;Hosseini et al, 2016;Abu Hashim, 2016). While previous studies have investigated the association between CYP19A1 and risk of endometriosis, the results were inconsistent (Hur et al, 2007;Vietri et al, 2009;Yang et al, 2010;Szczepańska et al, 2013;Wang et al, 2012Wang et al, , 2014. We have shown that there is a significant correlation between CYP19A1 rs2899470 and risk of endometriosis in a Chinese population.…”