Genetic variations in OLR1 gene associated with PCOS and atherosclerotic risk factors.

Sahin S. B., Nalkiran İ., Ayaz T., Irfan Guzel A., Eldes T., Calapoglu T., ...More

Journal of investigative medicine : the official publication of the American Federation for Clinical Research, vol.71, no.2, pp.113-123, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 71 Issue: 2
  • Publication Date: 2023
  • Doi Number: 10.1177/10815589221141831
  • Journal Name: Journal of investigative medicine : the official publication of the American Federation for Clinical Research
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.113-123
  • Keywords: PCOS, OLR1 gene, single nucleotide polymorphism, single nucleotide variation, atherosclerotic risk factors, next-generation sequencing, POLYCYSTIC-OVARY-SYNDROME, DENSITY-LIPOPROTEIN RECEPTOR-1, GENOME-WIDE ASSOCIATION, INSULIN-RESISTANCE, DIABETES-MELLITUS, IN-VIVO, LDL, PREVALENCE, POLYMORPHISM, LOX-1
  • Recep Tayyip Erdoğan University Affiliated: Yes


Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. The aim of this study was to investigate the association of oxidized low-density lipoprotein receptor 1 (OLR1) gene variations with the susceptibility of PCOS and to examine the relationship between the frequencies of OLR1 gene variations and atherosclerotic risk factors. Genomic DNA was extracted from blood samples collected from 49 patients with PCOS and 43 healthy controls. The variants in the OLR1 gene were identified using next-generation sequencing (NGS). Heterozygous rs11053646 (K167N), rs11611438, rs11611453, and rs35688880 genotype frequencies were significantly higher in the PCOS group than that of control group. Single nucleotide polymorphism (SNP) rs34163097 minor A allele increased the PCOS risk by similar to 10-fold (p = 0.03). SNPs rs11053646, rs11611438, rs11611453, rs34163097, and rs35688880 were positively correlated with body mass index (BMI). The logistic regression model (area under the curve: 0.770, p = 0.000) further revealed a combination of 2-h plasma glucose (PG-2 h), dehydroepiandrosterone sulfate (DHEAS), and rs11053646 as predictors of PCOS phenotype. This is the first study reporting the NGS data of OLR1 gene variants which might be associated with the pathogenesis of PCOS and several atherosclerotic risk factors, particularly higher BMI and DHEAS. To fully understand the genetic basis of PCOS and the contribution of OLR1 gene variants to PCOS pathogenesis, additional large-scale studies are warranted.