Genetic variability in antioxidative and inflammatory pathways modifies the risk for PCOS and influences metabolic profile of the syndrome
ID Herman, Rok (Author), ID Jensterle Sever, Mojca (Author), ID Janež, Andrej (Author), ID Goričar, Katja (Author), ID Dolžan, Vita (Author)

.pdfPDF - Presentation file, Download (1,14 MB)
MD5: D0365C6A96B48959CFBCE73753CF6447
URLURL - Source URL, Visit https://www.mdpi.com/2218-1989/10/11/439 This link opens in a new window

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.

Keywords:polycystic ovary syndrome, genetic variability, oxidative stress, inflammation, metabolic profile
Work type:Article
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Publication status:Published
Publication version:Version of Record
Number of pages:18 str.
Numbering:Vol. 10, iss. 11, art. 439
PID:20.500.12556/RUL-134727 This link opens in a new window
ISSN on article:2218-1989
DOI:10.3390/metabo10110439 This link opens in a new window
COBISS.SI-ID:34890499 This link opens in a new window
Publication date in RUL:27.01.2022
Copy citation
Share:Bookmark and Share

Record is a part of a journal

Shortened title:Metabolites
COBISS.SI-ID:523274009 This link opens in a new window


License:CC BY 4.0, Creative Commons Attribution 4.0 International
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:01.11.2020

Secondary language

Keywords:sindrom policističnih jajčnikov, genetska variabilnost, oksidativni stres


Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Project number:P1-0170
Name:Molekulski mehanizmi uravnavanja celičnih procesov v povezavi z nekaterimi boleznimi pri človeku

Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Project number:P3-0298
Name:Geni, hormonske in osebnostne spremembe pri metabolnih motnjah

Similar documents

Similar works from RUL:
Similar works from other Slovenian collections: