PMID- 26467281 OWN - NLM STAT- MEDLINE DCOM- 20161021 LR - 20191113 IS - 2352-0930 (Electronic) VI - 9 IP - 1 DP - 2015 TI - Susceptibility Risk Alleles of -238G/A, -308G/A and -1031T/C Promoter Polymorphisms of TNF-alpha Gene to Uterine Leiomyomas. PG - 65-71 AB - 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-alpha (TNF-alpha), 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-alpha 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-alpha -1031T/C polymorphism and UL was reported. A significant association of the TC genotype (chi(2) - 14.34; p=0.0008) and the C allele (chi(2) - 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-alpha leading to smooth cell proliferation and tumor progression, hence, may be a relevant molecular marker in the identification and establishment of UL. FAU - Medikare, Veronica AU - Medikare V FAU - Ali, Altaf AU - Ali A FAU - Ananthapur, Venkateshwari AU - Ananthapur V FAU - Deendayal, Mamata AU - Deendayal M FAU - Nallari, Pratibha AU - Nallari P AD - Department of Genetics, University College of Science, Osmania University, Hyderabad-500007, Telangana, India. prathinallari@yahoo.com. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United Arab Emirates TA - Recent Adv DNA Gene Seq JT - Recent advances in DNA & gene sequences JID - 101648465 RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Adult MH - Alleles MH - Female MH - *Genetic Association Studies MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Leiomyoma/*genetics/pathology MH - Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic MH - Risk Factors MH - Tumor Necrosis Factor-alpha/*genetics MH - Uterine Neoplasms/*genetics/pathology EDAT- 2015/10/16 06:00 MHDA- 2016/10/22 06:00 CRDT- 2015/10/16 06:00 PHST- 2015/10/16 06:00 [entrez] PHST- 2015/10/16 06:00 [pubmed] PHST- 2016/10/22 06:00 [medline] AID - CMC-EPUB-71110 [pii] AID - 10.2174/2352092210999151214155858 [doi] PST - ppublish SO - Recent Adv DNA Gene Seq. 2015;9(1):65-71. doi: 10.2174/2352092210999151214155858.