Polymorphism for Transforming Growth Factor Beta 1-509 (TGF-B1-509): Association with Endometriosis

Abstract

Transforming growth factor beta (TGF-B) family members are multi-functional cytokines that play a key role in cellular growth, proliferation, and differentiation. The aim of the study was to investigate whether the TGF-B1-509 gene polymorphism could be used as a marker of susceptibility in endometriosis. Women were divided into two groups: endometriosis (n = 150) and non-endometriosis (n = 159). Polymorphisms for TGF-B 1-509 genes were amplified by polymerase chain reaction and detected after restriction enzyme digestion. Genotypes and allelic frequencies in both groups were compared. Genotype proportions and allele frequencies of TGF-B1 gene polymorphisms differed significantly in both groups. Proportions of C homozygote, heterozygote, and T homozygote for TGF-B1 gene polymorphisms were 9.3/61.3/29.4% in the endometriosis group and 41.3158.510% in the non-endometriosis group. Alleles C and T for TGF-B1 gene polymorphism were 40/60% (endometriosis) and 70.8/29.2% (non-endometriosis). Association of endometriosis with TGF-B 1-509 gene polymorphism exists. T homozygote and T allele for TGF-B1 are associated with higher susceptibility to endometriosis.

Analysis of the transforming growth factor β1 gene −509 C/T polymorphism in patients with advanced-stage endometriosis

“…To the best of our knowledge, this is the second report to investigate an association between the À509 C/T polymorphism and endometriosis. The first study reported that the TT genotype and T allele were associated with a higher susceptibility to endometriosis in a Chinese population (19). In that study, there were no control women with T homozygote, but the proportion of endometriosis patients with T homozygote was 29.4%.…”

“…However, only one study has explored the association between the TGF-b gene polymorphism and the risk of endometriosis. Hsieh et al (19) reported that the À509 C/T polymorphism in the TGF-b1 gene was associated with an increased risk for endometriosis in a Chinese population.…”

Transforming growth factorβ1 L10P variant plays an active role on the breast cancer susceptibility in Caucasian: evidence from 10,392 cases and 11,697 controls

“…The burden of breast cancer is increasing in both developed and developing countries. TGFB1 is a member of the transforming growth factor beta (TGFB) family and works as a multi-functional cytokine that plays a key role in cellular growth, proliferation, and differentiation [1]. TGFB has three isoforms TGFB1, TGFB2, and TGFB3, while TGFB1 is the most abundant and universally expressed isoform [2].…”

DNA repair genes in endometriosis

“…Recently, several lines of genetic-association studies have revealed associations between the development of endometriosis and certain genetic polymorphisms. However, the genes that play a role in susceptibility to the development and progression of endometriosis are still unknown (Hsieh et al, 2005;Luisi et al, 2006).…”