SynthesisOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2011
Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.
Synthesis in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.American journal of obstetrics and gynecology · 2015Pooled it
- Association of IL-6 G-174C polymorphism with bone mineral density.Journal of bone and mineral metabolism · 2014Pooled it
- Association of MTHFR C667T polymorphism with bone mineral density and fracture risk: an updated meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2012Pooled it
- Review
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- The Analysis of ECE1 and PPARG Variants in the Development of Osteopenia and Osteoporosis in Postmenopausal Women.Biomedicines · 2024Article
- TheInternational journal of burns and trauma · 2024Review
- Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review.Life (Basel, Switzerland) · 2022Review
- Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients.Orphanet journal of rare diseases · 2022Article
- Identification and development of the novel 7-genes diagnostic signature by integrating multi cohorts based on osteoarthritis.Hereditas · 2022Article
- Bone mineral density in high-level endurance runners: Part B-genotype-dependent characteristics.European journal of applied physiology · 2022Article
- The importance of the UGT1A1 variants in the development of osteopenia and osteoporosis in postmenopausal women.Scientific reports · 2021Article
- Association of rs12722 COL5A1 with pulmonary tuberculosis: a preliminary case-control study in a Kazakhstani population.Molecular biology reports · 2021Article
- 3'-UTR Polymorphisms of MTHFR and TS Associated with Osteoporotic Vertebral Compression Fracture Susceptibility in Postmenopausal Women.International journal of molecular sciences · 2018Article
- Association analysis of the COL1A1 polymorphism with bone mineral density and prevalent fractures in Polish postmenopausal women with osteoporosis.Archives of medical science : AMS · 2016Article
- Identification of transcriptional factors and key genes in primary osteoporosis by DNA microarray.Medical science monitor : international medical journal of experimental and clinical research · 2015Article
- Association of COL1A1 polymorphisms with osteoporosis: a meta-analysis of clinical studies.International journal of clinical and experimental medicine · 2015Article
- Article
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
unlabelledA meta-analysis of studies was conducted involving 24,511 participants with 7,864 fractures in which polymorphisms in the 5' flank of COL1A1 (rs1107946, rs2412298, and rs1800012) were related to osteoporosis phenotypes. Polymorphisms of all three sites were associated with BMD, and rs1800012 was associated with fracture but effect sizes were modest. INTRODUCTION AND HYPOTHESIS: Polymorphisms in the 5' flank of COL1A1 gene have been implicated as genetic markers for susceptibility to osteoporosis, but previous studies have yielded conflicting results.
methodsWe conducted a meta-analysis of 32 studies including 24,511 participants and 7,864 fractures in which alleles at the -1997G/T (rs1107946), -1663in/delT (rs2412298), and Sp1 binding site polymorphisms (rs1800012) of COL1A1 had been related to bone mineral density (BMD) or fracture.
resultsFor the Sp1 polymorphism, BMD values in TT homozygotes were 0.13 units [95% CI, 0.03 to 0.24] lower at the spine (p = 0.01) and 0.16 units [0.10 to 0.23] lower at the hip (p = 1 x 10⁻⁶) than GG homozygotes. Clinical fractures were 1.31-fold [1.04-1.65] increased in TT homozygotes (p = 0.02) and vertebral fractures were 1.34-fold [1.01-1.77] increased (p = 0.04). We also observed associations between spine BMD and allelic variants at the -1997G/T (p = 0.05) and the -1663indelT (p = 0.009) sites. We found no association between alleles at the -1997G/T or -1663indelT sites and fracture but power was limited.
conclusionsThe COL1A1 Sp1 polymorphism is associated with a modest reduction in BMD and an increased risk of fracture, although we cannot fully exclude the possibility that the results may have been influenced by publication bias. Further studies are required to fully evaluate the contribution of the -1997G/T and -1663in/delT sites to these phenotypes and to determine if they interact with the Sp1 polymorphism to regulate susceptibility to osteoporosis.
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