Title:Susceptibility Risk Alleles of -238G/A, -308G/A and -1031T/C Promoter Polymorphisms of TNF-α Gene to Uterine Leiomyomas
Volume: 9
Issue: 1
Author(s): Veronica Medikare, Altaf Ali, Venkateshwari Ananthapur, Mamata Deendayal and Pratibha Nallari
Affiliation:
Keywords:
Apoptosis, cytokine, fibroids, polymorphism, TNF-α and uterine leiomyomasApoptosis, cytokine, fibroids, polymorphism, TNF-α and uterine leiomyomas
Abstract: Background: Uterine Leiomyomas (UL) are non-cancerous single celled mass of uterine
smooth muscles distinguished by presence of large amounts of collagen, fibronectin and proteoglycans.
Tumor necrosis factor-α (TNF-α), an inflammation inducing cytokine, plays a major role in
various disorders of the immune system; is involved in tumor development and progression. It is proposed
to study the influence of three functional promoter polymorphisms of TNF-α viz -238G/A, -308G/A and -1031T/C
in the development and progression of UL. Methodology: Study included 146 individuals positive for uterine fibroids and
150 healthy individuals. Genomic DNA was isolated from white blood corpuscles and subjected to PCR-RFLP analysis
and Allele Specific PCR (ARMS). The significance of the obtained data in controls and patients was estimated and computed
by adopting appropriate statistical tools. Results: In this study an association between TNF-α -1031T/C polymorphism
and UL was reported. A significant association of the TC genotype (χ2 − 14.34; p=0.0008) and the C allele
(χ2 − 5.898 p=0.015) with uterine leiomyomas was observed. Likewise odds risk estimates of 2.56 (95% CI 1.56-4.20,
p=0.0007) revealed a significant association of TC genotype and C allele with uterine leiomyomas. Conclusions: “TC”
genotype and “C” allele of rs1799964 (-1031T/C) is associated with higher risks to leiomyomas. The “C” allele of
-1031T/C results in an increased expression TNF-α leading to smooth cell proliferation and tumor progression, hence,
may be a relevant molecular marker in the identification and establishment of UL.
