Dataset Information

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

ABSTRACT: AIM: To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women. METHODS: SNPs in COL1A1 and COL1A2 genes were identified via direct sequencing in 32 unrelated postmenopausal Chinese women. Ten SNPs were genotyped in 1252 postmenopausal Chinese women. The associations were examined using both single-SNP and haplotype tests using logistic regression. RESULTS: Twenty four (4 novel) and 28 (7 novel) SNPs were identified in COL1A1 and COL1A2 gene, respectively. The distribution frequencies of 2 SNPs in COL1A1 (rs2075554 and rs2586494) and 3 SNPs in COL1A2 (rs42517, rs1801182, and rs42524) were significantly different from those documented for the European Caucasian population. No significant difference was observed between fracture and control groups with respect to allele frequency or genotype distribution in 9 selected SNPs and haplotype. No significant association was found between fragility fracture and each SNP or haplotype. The results remained the same after additional corrections for other risk factors such as weight, height, and bone mineral density. CONCLUSION: Our results show no association between common genetic variations of COL1A1 and COL1A2 genes and fracture, suggesting the complex genetic background of osteoporotic fractures.

SUBMITTER: Hu WW

PROVIDER: S-EPMC4003126 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature

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No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

Hu Wei-wei WW He Jin-wei JW Zhang Hao H Wang Chun C Gu Jie-mei JM Yue Hua H Ke Yao-hua YH Hu Yun-qiu YQ Fu Wen-zhen WZ Li Miao M Liu Yu-juan YJ Zhang Zhen-lin ZL

Acta pharmacologica Sinica 20110523 7

<h4>Aim</h4>To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women.<h4>Methods</h4>SNPs in COL1A1 and COL1A2 genes were identified via direct sequencing in 32 unrelated postmenopausal Chinese women. Ten SNPs were genotyped in 1252 postmenopausal Chinese women. The associations were examined using both single-SNP and haplotype tests using logistic regression.<h4>Results</h4>Twenty four (4 novel) and 28 (7 novel) SNPs were i ...[more]

PMID: 21602843

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Project description:The study examined long-term direct and indirect economic burden of osteoporotic fractures among postmenopausal women. Healthcare costs among fracture patients were substantial in first year after fracture and remained higher than fracture-free controls for 5 years which highlight needs for early detection of high-risk patients and continued management for osteoporosis.IntroductionThis study compared direct and indirect healthcare costs between postmenopausal women and demographically matched controls in the 5 years after incident non-traumatic fracture, and by fracture type in commercially insured and Medicare populations.MethodsTwo hundred twenty-six thousand one hundred ninety women (91,925 aged 50-64 years; 134,265 aged ≥ 65 years) with incident non-traumatic fracture (hip, vertebral, and non-hip non-vertebral (NHNV)) from 2008 to 2017 were identified. Patients with fracture were directly matched (1:1) to non-fracture controls based on demographic characteristics. Direct healthcare costs were assessed using general linear models, adjusting for baseline costs, comorbidities, osteoporosis diagnosis, and treatment. Indirect costs associated with work loss due to absenteeism and short-term disability (STD) were assessed among commercially insured patients. Costs were standardized to 2019 US dollars.ResultsOsteoporosis diagnosis and treatment rates prior to fracture were low. Patients with fracture incurred higher direct costs across 5-year post-index compared with non-fracture controls, regardless of fracture type or insurance. For commercially insured hip fracture patients, the mean adjusted incremental direct healthcare costs in years 1, 3, and 5 were $59,327, $6885, and $3241, respectively. Incremental costs were lower, but trends were similar for vertebral and NHNV fracture types and Medicare-insured patients. Commercially insured patients with fracture had higher unadjusted indirect costs due to absenteeism and STD in year 1 and higher adjusted indirect costs due to STD at year 1 (incremental cost $5848, $2748, and $2596 for hip, vertebral, and NHNV fracture).ConclusionsA considerable and sustained economic burden after a non-traumatic fracture underscores the need for early patient identification and continued management.

Project description:As life expectancy increases, the prevalence of osteoporosis is increasing. In addition to vitamin D which is well established to have an association with osteoporosis, B vitamins, such as thiamine, folate (vitamin B9), and cobalamin (vitamin B12), could affect bone metabolism, bone quality, and fracture risk in humans by influencing homocysteine/folate metabolism. Despite the crucial role of B vitamins in bone metabolism, there are few studies regarding associations between B vitamin-related genes and osteoporosis. In this study, we investigated the genetic association of four single nucleotide polymorphisms (SNPs) within the 3'-untranslated regions of vitamin B-related genes, including TCN2 (encodes transcobalamin II), CD320 (encodes transcobalamin II receptor), SLC19A1 (encodes reduced folate carrier protein 1), and SLC19A2 (encodes thiamine carrier 1), with osteoporosis and osteoporotic vertebral compression fracture (OVCF). We recruited 301 postmenopausal women and performed genotyping of CD320 rs9426C>T,TCN2 rs10418C>T, SLC19A1 rs1051296G>T, and SLC19A2 rs16862199C>T using a polymerization chain reaction-restriction fragment length polymorphism assay. There was a significantly higher incidence of both osteoporosis (AOR 5.019; 95% CI, 1.533-16.430, p < 0.05) and OVCF (AOR, 5.760; 95% CI, 1.480-22.417, p < 0.05) in individuals with genotype CD320 CT+TT and high homocysteine concentrations. Allele combination analysis revealed that two combinations, namely CD320 C-TCN2 T-SLC19A1 T-SLC19A2 C (OR, 3.244; 95% CI, 1.478-7.120, p < 0.05) and CD320 T-TCN2 C-SLC19A1 G-SLC19A2 C (OR, 2.287; 95% CI, 1.094-4.782, p < 0.05), were significantly more frequent among the osteoporosis group. Our findings suggest that SNPs within the CD320 gene in 3´-UTR may contribute to osteoporosis and OVCF occurrences in some individuals. Furthermore, specific allele combinations of CD320, TCN2, SLC19A1, and SLC19A2 may contribute to increased susceptibility to osteoporosis and OVCF.

Project description:Over the past two decades, a low frequency variant (rs1800012) within the first intron of the type I collagen alpha 1 (COLIA1) gene has been implicated in lower areal BMD (aBMD) and increased risk of osteoporotic fracture. This association is particularly strong in postmenopausal women, in whom net bone loss arises in the context of high bone turnover. High bone turnover also accompanies childhood linear growth; however, the role of rs1800012 in this stage of net bone accretion is less well understood. Thus, we assessed the association between rs1800012 and aBMD and bone mineral content (BMC) Z-scores for the 1/3 distal radius, lumbar spine, total hip, and femoral neck total body less head in the Bone Mineral Density in Childhood Study, a mixed-longitudinal cohort of children and adolescents (total n = 804 girls and 771 boys; n = 19 girls and 22 boys with the TT genotype). Mixed effects modeling, stratified by sex, was used to test for associations between rs1800012 and aBMD or BMC Z-scores and for pubertal stage interactions. Separately, SITAR growth modeling of aBMD and BMC in subjects with longitudinal data reduced the complex longitudinal bone accrual curves into three parameters representing a-size, b-timing, and c-velocity. We tested for differences in these three parameters by rs1800012 genotype using t-tests. Girls with the TT genotype had significantly lower aBMD and BMC Z-scores prior to puberty completion (e.g. spine aBMD-Z P-interaction = 1.0 × 10-6), but this association was attenuated post-puberty. SITAR models revealed that TT girls began pubertal bone accrual later (b-timing; e.g. total hip BMC, P = 0.03). BMC and aBMD Z-scores also increased across puberty in TT homozygous boys. Our data, along with previous findings in post-menopausal women, suggest that rs1800012 principally affects female bone density during periods of high turnover. Insights into the genetics of bone gain and loss may be masked during the relatively quiescent state in mid-adulthood, and discovery efforts should focus on early and late life.

Dataset Information

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

Publications

No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.

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