Relationship between MTHFR gene polymorphisms and osteoporosis in postmenopausal women

Objective To investigate the relationship between MTHFR gene(rs1801131 A1298 C and rs1801133C677T) polymorphisms and osteoporosis in the postmenopausal women of Suzhou urban area. Methods A population-based case-control study was conducted, including 261 postmenopausal women aged from 45 to 70 years enrolled throughrandomized cluster sampling in the community of Suzhou city. Epidemiology questionnaires were performed to gain the dataof healthy status. Bone mineral density and basic information were measured. The polymorphisms of MTHFR genes were de-tected using the polymerase chain reaction-restriction fragment length polymorphism( PCR-RFLP) by TaqMan real-timePCR. Results After adjustment for age, BMI, WHR and parity times, the variants of rs1801133(C→T)was positivelyassociated with risk of osteoporosis. Compared with the wild-type homozygote, the variant genotypes of rs1801133 TT andCT/ TT were associated with higher risk to osteoporosis respectively [adjusted ORs(95%CI)= 2. 63(1. 20-5. 77), 2. 37(1. 16-4. 87)]. Haplotype analysis of two SNPs indicated that haplotype AC, with variant allele A of rs1801131, could re-duce the risk for osteoporosis compared with haplotype CC [ ORs( 95%CI)= 0 . 60( 0. 39-0. 90)]. Model A1 A2(rs1801131, rs1801133) was the best model(CV Consistency= 10/ 10,P= 0. 0107) with GMDR method. Conclusions The MTHFR rs1801133 polymorphism may contribute to the susceptibility of osteoporosis in postmenopausal women. Thejoint-action of rs1801131 A1298 C and rs1801133 C677 T mayinfluence the risk of postmenopausal osteoporosis.