Genetic variation in NOD1/CARD4 and NOD2/CARD15 immune sensors and risk of osteoporosis

Biosci Rep. 2020 Jul 31;40(7):BSR20192313. doi: 10.1042/BSR20192313.

Abstract

The present study was aimed to investigate the relationship between NOD1/CARD4 and NOD2/CARD15 gene polymorphisms and osteoporosis in the Turkish population. The first time we thought that the functional polymorphisms in NOD1/CARD4 and NOD2/CARD15 genes might have triggered the development of osteoporosis. The objective of our study was to determine the relationship between NOD1/CARD4 and NOD2/CARD15 SNPs and osteoporosis. The NOD1/CARD4 (rs5743336) and NOD2/CARD15 (rs2066847) SNPs were analyzed by PCR restriction fragment length polymorphism (PCR-RFLP) in 94 healthy controls and 164 subjects with osteoporosis. PCR products were digested with restriction enzymes AvaI for NOD1/CARD4 and ApaI for NOD2/CARD15. We found that NOD1/CARD4 genotype distribution of AA, GA and GG were 15, 44 and 41% for patients and 17, 46 and 37% for controls, respectively. NOD2/CARD15 mutation was found only in three patients (1.8%) as heterozygote. The results did not show any statistical difference between NOD1/CARD4 and NOD2/CARD15 genotype distribution of patients and healthy groups (χ2 = 1.740, P=0.187; χ2 = 1.311, P=0.519). However, the most frequent AG genotype (46%) of NOD1/CARD4 was observed in healthy controls, GG genotype (44%) of NOD1/CARD4 was observed as the most frequent in osteoporotic patients. NOD2/CARD15 WT/WT genotype, the most frequent genotype, was observed in both groups. Statistical analysis revealed that NOD1/CARD4 and NOD2/CARD15 polymorphisms are not associated with osteoporosis. However, a definite judgement is difficult to be made due to restricted number of patients and small size of control group. Further research is sorely warranted in this direction.

Keywords: NOD1/CARD4; NOD2/CARD15; Osteoporosis; Polymorphism.

Publication types

  • Observational Study

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Aged
  • Bone Density / genetics
  • Bone Density / immunology
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease*
  • Healthy Volunteers
  • Humans
  • Immunity, Innate / genetics
  • Male
  • Middle Aged
  • Nod1 Signaling Adaptor Protein / genetics*
  • Nod2 Signaling Adaptor Protein / genetics*
  • Osteoporosis / diagnosis
  • Osteoporosis / epidemiology
  • Osteoporosis / genetics*
  • Osteoporosis / immunology
  • Polymorphism, Restriction Fragment Length
  • Risk Factors
  • Turkey / epidemiology

Substances

  • NOD1 protein, human
  • NOD2 protein, human
  • Nod1 Signaling Adaptor Protein
  • Nod2 Signaling Adaptor Protein