Literature DB >> 26628959

Association of COL1A1 polymorphisms with osteoporosis: a meta-analysis of clinical studies.

Peigen Xie1, Bin Liu1, Liangming Zhang1, Ruiqiang Chen1, Bu Yang1, Jianwen Dong1, Limin Rong1.   

Abstract

OBJECTIVE: To conduct a meta-analysis of all association studies on two of the collagen 1 alpha 1 (COL1A1) gene polymorphisms, the -1997G/T (rs1107946) and the -1663indelT (rs2412298) polymorphisms and osteoporosis/BMD and fracture.
METHODS: PubMed/Medline and Web of Knowledge were searched for relevant association studies published in English. Pooled OR and its corresponding 95% CI or pooled MD and its corresponding 95% CI was calculated with the Cochrane Review Manager (Revman, version 5.2) using a random-effect or a fixed effect model.
RESULTS: No significant association between the -1997G/T polymorphism and Lumbar Spine (LS) and Femoral Neck (FN) BMD except for the Caucasian subpopulation wherein subjects with the T allele of the -1997G/T polymorphism was associated with significantly higher LS BMD. Our analysis did reveal that women, especially postmenopausal or perimenopausal women with the GG genotype, had significantly higher Total Hip (TH) BMD than those with the GT. Additionally, our meta-analysis did not show significant association between the -1997G/T polymorphism and risk of fracture, between the -1663indelT polymorphism and LS BMD in postmenopausal or perimenopausal women, or between the -1663indelT polymorphism and the risk of fracture.
CONCLUSIONS: Our results suggested the possibility of the COL1A1 -1997G/T and the -1663indelT polymorphisms individually playing very little role in osteoporosis and fracture, although more studies are needed especially for the analysis of association between these two polymorphisms and fracture. Haplotype studies may become one important future direction of study to further elucidate whether and how various COL1A1 polymorphisms affect bone health, osteoporosis and fracture.

Entities:  

Keywords:  -1663indelT; -1997G/T; COL1A1; bone mineral density; fracture; osteoporosis; polymorphism

Year:  2015        PMID: 26628959      PMCID: PMC4658848     

Source DB:  PubMed          Journal:  Int J Clin Exp Med        ISSN: 1940-5901


  28 in total

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3.  A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India.

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6.  COL1A1 haplotypes and hip fracture.

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Authors:  M Bustamante; X Nogués; A Enjuanes; R Elosua; N García-Giralt; L Pérez-Edo; E Cáceres; R Carreras; L Mellibovsky; S Balcells; A Díez-Pérez; D Grinberg
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6.  Female Athletes Genetically Susceptible to Fatigue Fracture Are Resistant to Muscle Injury: Potential Role of COL1A1 Variant.

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Review 7.  Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.

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  7 in total

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