Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis

IDUA 和 PTCH1 与中国老年骨质疏松症患者骨密度、骨转换标志物及骨折的关系

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作者:Qifei Wang, Chong Tang, Junxiu Jia, Guangwu Zhang, Zheng Liu

Conclusions

IDUA rs6831280 is associated with BMDs at L2-4 and TH in the elderly Chinese population with SOP and may serve as a marker for the genetic susceptibility to osteoporotic fractures.

Methods

A cohort of 328 unrelated senile osteoporosis (SOP) patients with or without osteoporotic fractures was recruited. rs3755955, rs6831280, and rs28377268 polymorphisms were identified using SNaPshot technology. BTM levels were determined by electrochemiluminescence (ECL). Bone mineral densities (BMDs) at the lumbar spine (LS) and proximal femur sites were measured by dual-energy X-ray absorptiometry (DEXA) in all subjects. The Hardy-Weinberg equilibrium (HWE) test was performed. HWE P values and comparisons of genotype frequencies were estimated using the chi-square test. Analysis of covariance (ANCOVA) adjusted for confounding factors was performed to investigate associations of SNPs with BMDs and BTMs in subgroups.

Results

The chi-square test indicated that genotype distributions in the control group conformed to HWE (P > 0.05). The distributions of allele and genotype frequencies of rs6831280 between fracture and osteoporotic participants were significantly different (P-allele = 0.002 and P-genotype = 0.012, respectively). Concerning rs6831280, ANCOVA found BMDs at LS 2-4 (L2-4) and total hip (TH) among the study subjects suffering from SOP with GA genotype were lower than in those carrying GG or AA (P-L2-4 = 0.004 and P-TH = 0.027, respectively). Conclusions: IDUA rs6831280 is associated with BMDs at L2-4 and TH in the elderly Chinese population with SOP and may serve as a marker for the genetic susceptibility to osteoporotic fractures.

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