Abstract
Introduction Osteoporosis (OP) is a common polygenic disorder in the aging population, and several single nucleotide polymorphisms (SNPs) in the alpha-L-iduronidase (IDUA) gene and patched homolog 1 (PTCH1) gene regulate bone metabolism and affect bone mass. The study aimed at investigating the relationships of rs3755955 and rs6831280 in the IDUA gene and rs28377268 in the PTCH1 gene with bone mineral density (BMD), bone turnover markers (BTMs), and fractures in the elderly Chinese subjects with OP. Materials and 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.
Highlights
Osteoporosis (OP) is a common polygenic disorder in the aging population, and several single nucleotide polymorphisms (SNPs) in the alpha-L-iduronidase (IDUA) gene and patched homolog 1 (PTCH1) gene regulate bone metabolism and affect bone mass
It is estimated that the genetic factor accounts for approximately 60-80% of individual variance in bone mineral density (BMD) [3], which is a known predictor of the risk of osteoporotic fractures [4, 5]
Genome-wide association studies (GWAS) of common sequence variants in large-scale populations have in recent years discovered considerable common genetic variations that are related with BMD variants [9,10,11]
Summary
OP is a complex and polygenic disorder characterized by decreased bone mass, microarchitectural deterioration of the bone tissue, and elevated bone fragility and susceptibility to fractures [1]. Genome-wide association studies (GWAS) of common sequence variants in large-scale populations have in recent years discovered considerable common genetic variations that are related with BMD variants [9,10,11]. SNPs such as rs6831280 and rs3755955 in the IDUA gene were reported to affect OP risk by protein phosphorylation that regulates a Disease Markers. The above SNPs were associated with BMD in previous studies, the conclusion may not apply to other ethnicities and populations due to genetic variations and diverse environmental factors. Most previous studies involved women, especially postmenopausal women, instead of the elderly whose life quality would be seriously impaired when they suffer from osteoporotic fractures. Our study aimed to investigate the relationships of rs3755955 and rs6831280 in the IDUA gene and rs28377268 in the PTCH1 gene with BMDs, BTMs, and fractures in an elderly Chinese population
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