Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures

Horst‐Sikorska, Wanda; Kalak, Robert; Wawrzyniak, Anna; Marcinkowska, Michalina; Celczyńska-Bajew, Liliana; Słomski, Ryszard

doi:10.1007/s00774-007-0769-5

Cited by 28 publications

(18 citation statements)

References 61 publications

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“…Among these studies, 21 studies concerned the association of the Fok1 polymorphism with osteoporosis [9,72-91], while 26 studies investigated the association between Bsm1polymorphism and osteoporosis risk [92-117]. Also 14 articles evaluated both polymorphism associations with osteoporosis [118-131]. All of these 61 studies provided sufficient data to calculate the possible relationship between the two polymorphisms of the VDR gene and osteoporosis risk.…”

Section: Resultsmentioning

confidence: 99%

Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review

Mohammadi

Fayyazbakhsh

Ebrahimi

et al. 2014

J Diabetes Metab Disord

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Osteoporosis is a health concern characterized by reduced bone mineral density (BMD) and increased risk of fragility fractures. Many studies have investigated the association between genetic variants and osteoporosis. Polymorphism and allelic variations in the vitamin D receptor gene (VDR) have been found to be associated with bone mineral density. However, many studies have not been able to find this association. Literature review was conducted in several databases, including MEDLINE/Pubmed, Scopus, EMBASE, Ebsco, Science Citation Index Expanded, Ovid, Google Scholar, Iran Medex, Magiran and Scientific Information Database (SID) for papers published between 2000 and 2013 describing the association between Fok1 and Bsm1 polymorphisms of the VDR gene and osteoporosis risk. The majority of the revealed papers were conducted on postmenopausal women. Also, more than 50% studies reported significant relation between Fok1, Bsm1 and osteoporosis. Larger and more rigorous analytical studies with consideration of gene-gene and gene-environment interactions are needed to further dissect the mechanisms by which VDR polymorphisms influence osteoporosis.

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Section: Resultsmentioning

confidence: 99%

Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review

Mohammadi

Fayyazbakhsh

Ebrahimi

et al. 2014

J Diabetes Metab Disord

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“…Among a group of prepubertal American girls of Mexican descent, Sainz et al [158] found that girls with the aa and bb genotypes had 2 to 3% higher femoral bone density and an 8 to 10% higher vertebral bone density than girls with AA and BB genotypes. Horst-Sikorska et al [159] also observed a statistically significant association of the VDR gene polymorphisms and haplotypes with the BMD and with the occurrence of fractures. However, several other studies found no association between VDR genotype and BMD [160; 161].…”

Section: Genes Containing Known Bmd-associated Polymorphismsmentioning

confidence: 97%

Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse

et al. 2009

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This is an in silico analysis of data available from genome-wide scans. Through analysis of QTL, genes and polymorphisms that regulate BMD, we identified 82 BMD QTL, 191 BMD-associated (BMDA) genes, and 83 genes containing known BMD-associated polymorphisms (BMDAP). The catalogue of all BMDA/BMDAP genes and relevant literatures are provided. In total, there are substantially more BMDA/BMDAP genes in regions of the genome where QTL have been identified than in non-QTL regions. Among 191 BMDA genes and 83 BMDAP genes, 133 and 58 are localized in QTL region, respectively. The difference was still noticeable for the chromosome distribution of these genes between QTL and non-QTL regions. These results have allowed us to generate an integrative profile of QTL, genes, polymorphisms that determine BMD. These data could facilitate more rapid and comprehensive identification of causal genes underlying the determination of BMD in mouse and provide new insights into how BMD is regulated in humans.

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“…Large-scale studies, functional studies and studies of other VDR polymorphisms are necessary to understand the interaction of VDR and other ocular pathway proteins in the development of myopia. [34]…”

Section: Resultsmentioning

confidence: 99%

Association of vitamin D receptor gene start codon (Fok1) polymorphism with high myopia

Annamaneni

Bindu

Reddy³

et al. 2011

Oman J Ophthalmol

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Background:High myopia caused primarily due to abnormal emmetropization and excessive axial ocular elongation is associated with sight-threatening ocular pathology. Muscular dysfunction of ocular ciliary muscles due to altered intracellular calcium levels can result in defective mechanotransduction of the eye and retinal defocus. The vitamin D3 receptor (VDR; a intracellular hormone receptor) is known to mediate calcium homeostasis, influencing the development of myopia.Materials and Methods:In the present study, a total of 206 high myopia, 98 low myopia and 250 control samples were analyzed for VDR gene Fok1 (exon 2 start codon) polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.Results:High myopia patients revealed decrease in the frequency of ff homozygotes (8.3%) as compared to control group (14.0%), with a corresponding increase in frequency of FF homozygotes (68.9% in high myopia vs. 62.8% in controls). The frequency of f allele carriers (Ff and ff) was increased in females of high myopia (35.6%) and low myopia cases (45.4%). Elevated frequency of f allele was found only in early age at onset cases of high myopia (0.227) and later age at onset (10–20 years) cases of low myopia (0.273) as well as in low myopia cases with parental consanguinity (0.458) (P 0.035; χ2 = 6.692*).Conclusion:The results suggest that VDR gene might not be playing a direct role in the development of myopia, but might contribute indirectly to the risk conferred by mechanical stress factors or growth/development related factors through its role in calcium homeostasis and regulation of ciliary muscle function.

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Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures

Cited by 28 publications

References 61 publications

Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review

Association between vitamin D receptor gene polymorphisms (Fok1 and Bsm1) and osteoporosis: a systematic review

Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse

Association of vitamin D receptor gene start codon (Fok1) polymorphism with high myopia

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