Association of PLXNA2 polymorphisms with vertebral fracture risk and bone mineral density in postmenopausal Korean population

Introduction Plexin A2 ( PLXNA2 ) is a receptor that recognizes secreted or membrane-bound semaphorin 3A, which is implicated in neural regulation of bone metabolism. Materials and Methods In the present study, we identified 48 genetic polymorphisms in PLXNA2 by resequencing, and 10 single nucleotide polymorphisms (SNPs) were selected for further investigation into their potential involvement in osteoporosis in a postmenopausal population ( n =560). Results Two SNPs, + 14G>A (Gln5Arg) and +183429C>T (Tyr1621Tyr), and Block1-ht2 were associated with risk of vertebral fracture ( p =0.01–0.05), and three SNPs, +799G>A (Ala267Thr), +135391G>A , and +190531G>C , were associated with bone mineral density at various femur sites ( p =0.003–0.03). Particularly, the minor allele of +14G>A was associated with a protective effect on vertebral fracture and higher lumbar bone mineral density, suggesting that +14G>A may be a useful marker for osteoporosis and its related fracture. Conclusion These results provide, for the first time, evidence supporting the association of PLXNA2 with osteoporosis in postmenopausal women.