PMID- 15474092 OWN - NLM STAT- MEDLINE DCOM- 20041119 LR - 20131121 IS - 0015-0282 (Print) IS - 0015-0282 (Linking) VI - 82 Suppl 3 DP - 2004 Oct TI - Tumor necrosis factor-alpha-308 promoter and p53 codon 72 gene polymorphisms in women with leiomyomas. PG - 1177-81 AB - OBJECTIVE: Tumor necrosis factor-alpha (TNF-alpha), a proinflammatory cytokine, plays an important role in the process of autoimmune diseases. p53 is related to the regulation of cell growth and prevention of carcinogenesis. We propose to investigate whether gene polymorphisms for TNF-alpha-308 promoter and p53 could be used as markers of susceptibility in leiomyomas. DESIGN: Prospective basic study. SETTING: Departments of gynecology and genetics in a medical center. PATIENT(S): Group 1: leiomyoma (n = 159); group 2: non-leiomyoma (n = 131). INTERVENTION(S): Genomic DNA was obtained from peripheral leukocyte. The TNF-alpha and p53 gene polymorphisms were amplified by polymerase chain reaction (PCR), enzyme restriction, and electrophoresis. MAIN OUTCOME MEASURE(S): Two gene polymorphisms were identified: [1] the A (cuttable)/G (uncuttable) polymorphisms of the TNF-alpha gene on chromosome 6p21.3; [2] A (cuttable)/P (uncuttable) polymorphisms of the p53 gene on chromosome 17p. Genotype and allelic frequencies in both groups were compared. RESULT(S): Genotype distribution and allele frequency of TNF-alpha gene polymorphism in both groups were significantly different. Proportions of A homozygote/heterozygote/G homozygote for TNF-alpha in both groups were: (group 1) 61%/34.6%/4.4% and (group 2) 81.7%/14.5%/3.8%. Proportions of allele A/G for TNF-alpha in both groups were: (group 1) 78.3%/21.7% and (group 2) 88.9%/11.1%. Distributions of p53 polymorphisms in both groups were not different. The proportions of A homozygotes/heterozygotes/P homozygotes for p53 were (group 1) 32.7%/42.1%/25.2% and (group 2) 28.2%/48.9%/22.9%. CONCLUSION(S): G homozygote and G allele for TNF-alpha promoter are related to a higher risk of leiomyomas. The p53 codon 72 gene polymorphism is not associated with the susceptibility of leiomyomas. FAU - Hsieh, Yao-Yuan AU - Hsieh YY AD - Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. FAU - Chang, Chi-Chen AU - Chang CC FAU - Tsai, Fuu-Jen AU - Tsai FJ FAU - Lin, Cheng-Chieh AU - Lin CC FAU - Yeh, Lian-Shun AU - Yeh LS FAU - Tsai, Chang-Hai AU - Tsai CH LA - eng PT - Journal Article PL - United States TA - Fertil Steril JT - Fertility and sterility JID - 0372772 RN - 0 (Codon) RN - 0 (Genetic Markers) RN - 0 (Tumor Necrosis Factor-alpha) RN - 5Z93L87A1R (Guanine) RN - JAC85A2161 (Adenine) SB - IM MH - Adenine MH - Alleles MH - Case-Control Studies MH - Chromosomes, Human, Pair 17 MH - Chromosomes, Human, Pair 6 MH - Codon/*genetics MH - Female MH - Gene Frequency MH - *Genes, p53 MH - Genetic Markers MH - Genetic Predisposition to Disease MH - Genotype MH - Guanine MH - Homozygote MH - Humans MH - Leiomyoma/*genetics MH - *Polymorphism, Single Nucleotide MH - *Promoter Regions, Genetic MH - Prospective Studies MH - Tumor Necrosis Factor-alpha/*genetics MH - Uterine Neoplasms/*genetics EDAT- 2004/10/12 09:00 MHDA- 2004/12/16 09:00 CRDT- 2004/10/12 09:00 PHST- 2003/06/16 00:00 [received] PHST- 2004/03/01 00:00 [revised] PHST- 2004/03/01 00:00 [accepted] PHST- 2004/10/12 09:00 [pubmed] PHST- 2004/12/16 09:00 [medline] PHST- 2004/10/12 09:00 [entrez] AID - S0015-0282(04)01109-4 [pii] AID - 10.1016/j.fertnstert.2004.03.035 [doi] PST - ppublish SO - Fertil Steril. 2004 Oct;82 Suppl 3:1177-81. doi: 10.1016/j.fertnstert.2004.03.035.