Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer

Int J Gynaecol Obstet. 2020 Jan;148(1):118-122. doi: 10.1002/ijgo.12997. Epub 2019 Oct 31.

Abstract

Objective: To investigate the association of newly identified genetic variants G>A (rs2285947) of the DNAH11 gene and G>A (rs2494938) of the LRFN2 gene with ovarian and breast cancers in women belonging to Jammu and Kashmir state, where the prevalence of ovarian and breast cancers is remarkably high in the population.

Methods: A candidate gene prospective case-control association study design was adopted, in which 354 cases (219 cases of ovarian cancer and 135 cases of breast cancer) were histopathologically confirmed and 330 healthy controls matched for age and ethnicity were recruited. The details of cases and controls were also recorded in a predesigned pro forma after their written informed consent. Both variants were genotyped by TaqMan allele discrimination assay using real-time polymerase chain reaction. Logistic regression analysis was performed to estimate the corrected odds ratio (OR), confidence interval (CI), and level of significance (P value) for potential confounding factors.

Results: The rs2285947 variant of DNAH11 was found to be significantly associated with both ovarian and breast cancers with adjusted ORs of 1.7 (95% CI 1.2-2.4; P=0.004) and 1.70 (95% CI 1.13-2.54; P=0.0009), respectively. However, no significant association of variant rs2494938 of LRFN2 was observed with ovarian cancer (estimated OR 0.9, 95% CI 0.6-1.4; P=0.919) or breast cancer (estimated OR 1.27, 95% CI 0.8-1.9; P=0.216).

Conclusions: The collected data proposed that the variant rs2285947 of DNAH11 gene is a potential risk factor for ovarian and breast cancers in the studied population.

Keywords: Breast cancer; Case control association study; Dynein axonemal heavy chain 11 (DNAH11); Jammu and Kashmir; Leucine-rich repeat and fibronectin type III domain-containing 2 (LRFN2); Odds ratio; Ovarian cancer.

MeSH terms

  • Adult
  • Axonemal Dyneins*
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Membrane Glycoproteins*
  • Middle Aged
  • Nerve Tissue Proteins*
  • Ovarian Neoplasms / genetics*
  • Prospective Studies
  • Real-Time Polymerase Chain Reaction
  • Risk Factors

Substances

  • LRFN2 protein, human
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Axonemal Dyneins
  • DNAH11 protein, human