PMID- 31539356 OWN - NLM STAT- MEDLINE DCOM- 20200422 LR - 20200422 IS - 1868-1891 (Electronic) IS - 1868-1883 (Linking) VI - 40 IP - 2 DP - 2019 Sep 20 TI - Association between tumor necrosis factor-alpha gene-1031T/C promoter polymorphism and endometriosis in a European population. LID - /j/hmbci.2019.40.issue-2/hmbci-2019-0033/hmbci-2019-0033.xml [pii] LID - 10.1515/hmbci-2019-0033 [doi] AB - Background Tumor necrosis factor-alpha (TNF-alpha) is a pro-inflammatory cytokine which plays an important role in the pathogenesis of many diseases. Endometriosis is one of the most common gynecological diseases. The purpose of this study was to investigate the association of TNF-alpha-1031T/C polymorphism with the genetic susceptibility of endometriosis in a European population. Materials and methods In this case-control study, 51 endometriosis patients and 67 healthy control women participated. We used endometrial tissue from the patients and peripheral blood from the healthy women to extract DNA. Polymerase chain reaction (PCR) analysis and the restriction enzyme Bbs I were used to analyze the -1031 T/C polymorphism in the TNF-alpha gene promoter region. Statistical analysis was performed using Fisher's exact test. We also calculated the odds ratios. Results In the group of patients, 66.7% of women were detected with the TT genotype, 33.3% with the TC genotype and 0% with the CC genotype while in the control group, 46.3% had the TT genotype, 47.8% had the TC genotype and 6% had the CC genotype. There was a significant association between the TT genotype with endometriosis (p = 0.03). There was no significant deviation from the Hardy-Weinberg equilibrium. Conclusions The TC and CC genotypes appeared more often in the healthy women than the endometriosis patients and this shows that the C allele might have a protective role in endometriosis in the Greek population. Further studies are needed to specify the role of this polymorphism in pathogenesis of endometriosis and the mechanisms that protect the patients from the disease. FAU - Drakou, Anastasia AU - Drakou A AUID- ORCID: 0000-0003-3992-2902 AD - Sodertalje Hospital, Department of Obstetrics and Gynecology, Tradgardsmastarstigen 10, 14432 Ronninge, Sweden. AD - Molecular Biology Unit, Division of Human Reproduction, 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. FAU - Mavrogianni, Despoina AU - Mavrogianni D AD - Molecular Biology Unit, Division of Human Reproduction, 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. FAU - Ntzeros, Konstantinos AU - Ntzeros K AD - 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. FAU - Protopapas, Athanasios AU - Protopapas A AD - 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. FAU - Drakakis, Petros AU - Drakakis P AD - Molecular Biology Unit, Division of Human Reproduction, 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. AD - 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. FAU - Loutradis, Dimitrios AU - Loutradis D AD - 1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece. LA - eng PT - Journal Article DEP - 20190920 PL - Germany TA - Horm Mol Biol Clin Investig JT - Hormone molecular biology and clinical investigation JID - 101538885 RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Adult MH - Case-Control Studies MH - Endometriosis/epidemiology/*genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease/epidemiology/genetics MH - Greece/epidemiology MH - Humans MH - *Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic MH - Protective Factors MH - Tumor Necrosis Factor-alpha/*genetics OTO - NOTNLM OT - endometriosis OT - polymorphism OT - promoter OT - tumor necrosis factor-alpha EDAT- 2019/09/21 06:00 MHDA- 2020/04/23 06:00 CRDT- 2019/09/21 06:00 PHST- 2019/06/22 00:00 [received] PHST- 2019/08/18 00:00 [accepted] PHST- 2019/09/21 06:00 [pubmed] PHST- 2020/04/23 06:00 [medline] PHST- 2019/09/21 06:00 [entrez] AID - /j/hmbci.ahead-of-print/hmbci-2019-0033/hmbci-2019-0033.xml [pii] AID - 10.1515/hmbci-2019-0033 [doi] PST - epublish SO - Horm Mol Biol Clin Investig. 2019 Sep 20;40(2):/j/hmbci.2019.40.issue-2/hmbci-2019-0033/hmbci-2019-0033.xml. doi: 10.1515/hmbci-2019-0033.