20.500.12556/RUL-134727 Genetic variability in antioxidative and inflammatory pathways modifies the risk for PCOS and influences metabolic profile of the syndrome Polycystic ovary syndrome (PCOS) is a complex endocrine and metabolic disorder of multifactorial etiopathology likely to involve the interactions between genetics and lifestyle. Chronic inflammation and oxidative stress (OS) may participate in the pathophysiology of the syndrome. The question of the extent to which OS and inflammation are causally related to the development of the syndrome and metabolic complications remains unanswered. By our knowledge, the role of the NLR family pyrin domain containing 3 (NLRP3) inflammasome as an important trigger of inflammatory pathways and NLRP3 and CARD8 polymorphisms has never been addressed in PCOS yet. We conducted a case-control study conducting of total 169 Slovenian PCOS patients and 83 healthy blood donors. They were genotyped for polymorphisms in antioxidative (SOD2 rs4880, CAT rs1001179, PON1 rs854560, and rs662) and inflammatory pathways genes (NLRP3 rs35829419, CARD8 rs2043211, TNF rs1800629, IL1B rs1143623, and rs16944, IL6 rs1800795) using competitive allele-specific polymerase chain reaction (PCR). Logistic regression and the Mann–Whitney test were used in the statistical analysis. SOD2 rs4880, CARD8 rs2043211, and IL1B rs16944 were associated with the risk of developing PCOS. Furthermore, the interactions between CARD8 rs2043211 and IL6 rs1800795 and between IL1B rs1143623 and IL6 rs1800795 also significantly affected the risk for PCOS. With regard to glucose homeostasis, CAT rs1001179, SOD2 rs4880, PON1 rs854560, NLRP3 rs35829419, and TNF rs1800629 were significantly associated with response to the glycemic load. Our data indicate that the genetic variability in the antioxidative and inflammatory pathways influences the development of PCOS and glucose homeostasis in PCOS patients. polycystic ovary syndrome genetic variability oxidative stress inflammation metabolic profile sindrom policističnih jajčnikov genetska variabilnost oksidativni stres true false true Angleški jezik Slovenski jezik Članek v reviji 2022-01-27 16:08:45 2022-01-27 16:08:47 2022-09-14 04:09:35 0000-00-00 00:00:00 2020 0 0 18 str. iss. 11, art. 439 Vol. 10 2020 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.4 2218-1989 10.3390/metabo10110439 34890499 RAZ_Herman_Rok_2020.pdf RAZ_Herman_Rok_2020.pdf 1 D0365C6A96B48959CFBCE73753CF6447 8bcc286e14134149a238d7384ad7390aa3bd169eaa20cc42518f7a45f8e716a2 2e69d4fb-7f83-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153335 https://www.mdpi.com/2218-1989/10/11/439 1 d2d65dbb-7f82-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153334 Medicinska fakulteta 0 0 0