Dataset Information

Prevalence of osteoporosis and vitamin D receptor gene polymorphisms (FokI) in an Iranian general population based study (Kurdistan) (IMOS).

ABSTRACT: Osteoporosis, or porous bone, is a disease characterized by low bone mass density (BMD) and structural deterioration of bone tissue, leading to bone fragility and increased risk of hip, spine, and wrist fractures. There are numerous risk factors for osteoporosis. While many of these factors are non-genetic in nature, there is a definite genetic component responsible for this condition. The main aim of this study was to evaluate the association between VDR (Vitamin D receptor gene) polymorphisms (Fok1) A>G (rs2228570) and bone mineral density in an Iranian defined population.The study participants comprised of 1032 Iranians recruited from the city of Sanandaj during IMOS (Iranian Multi Center Osteoporosis Study). Bone mineral density measurement was performed in all the participants with and without osteoporosis. All samples were genotyped for VDR genes (Fok1) polymorphism with polymerase chain reaction, using a predesigned TaqMan allele discrimination assay.There was a significant association between Fok1 polymorphism and osteoporosis in postmenopausal women, 0.138 (0.025-0.768).It seems that cohort studies, which are more powerful than case-control studies, can be useful in evaluating the roles of genetic variants as risk or protective factors for osteoporosis.

SUBMITTER: Mohammadi Z

PROVIDER: S-EPMC4715426 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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Prevalence of osteoporosis and vitamin D receptor gene polymorphisms (FokI) in an Iranian general population based study (Kurdistan) (IMOS).

Mohammadi Zahra Z Keshtkar Abbasali A Fayyazbakhsh Fateme F Ebrahimi Mehdi M Amoli Mahsa M MM Ghorbani Mostafa M Khashayar Patricia P Dini Mahboubeh M Ebrahimi-Rad Mina M Larijani Bagher B

Medical journal of the Islamic Republic of Iran 20150720

<h4>Background</h4>Osteoporosis, or porous bone, is a disease characterized by low bone mass density (BMD) and structural deterioration of bone tissue, leading to bone fragility and increased risk of hip, spine, and wrist fractures. There are numerous risk factors for osteoporosis. While many of these factors are non-genetic in nature, there is a definite genetic component responsible for this condition. The main aim of this study was to evaluate the association between VDR (Vitamin D receptor g ...[more]

PMID: 26793629

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Project description:Polymorphisms of the vitamin D receptor gene (VDR) have been associated inconsistently with various diseases, across populations of diverse origin. The T(f) allele of the functional SNP FokI, in exon 2 of VDR, results in a longer vitamin D receptor protein (VDR) isoform, proposed to be less active. Genetic association of VDR with disease is likely confounded by ethnicity and environmental factors such as plasma 25(OH)D3 status. We hypothesized that VDR expression, VDR level and transactivation of target genes, CAMP and CYP24A1, depend on vitamin D, ethnicity and FokI genotype. Healthy volunteers participated in the study (African, n?=?40 and White, n?=?20). Plasma 25(OH)D3 levels were quantified by LC-MS and monocytes cultured, with or without 1,25(OH)2D3. Gene expression and protein level was quantified using qRT-PCR and flow cytometry, respectively. Mean plasma 25(OH)D3 status was normal and not significantly different between ethnicities. Neither 25(OH)D3 status nor 1,25(OH)2D3 supplementation significantly influenced expression or level of VDR. Africans had significantly higher mean VDR protein levels (P<0.050), nonetheless transactivated less CAMP expression than Whites. Genotyping the FokI polymorphism by pyrosequencing together with HapMap data, showed a significantly higher (P<0.050) frequency of the CC genotype in Africans than in Whites. FokI genotype, however, did not influence VDR expression or VDR level, but influenced overall transactivation of CAMP and 1,25(OH)2D3-elicited CYP24A1 induction; the latter, interacting with ethnicity. In conclusion, differential VDR expression relates to ethnicity, rather than 25(OH)D3 status and FokI genotype. Instead, VDR transactivation of CAMP is influenced by FokI genotype and, together with ethnicity, influence 1,25(OH)2D3-elicited CYP24A1 expression. Thus, the expression and role of VDR to transactivate target genes is determined not only by genetics, but also by ethnicity and environment involving complex interactions which may confound disease association.

Dataset Information

Prevalence of osteoporosis and vitamin D receptor gene polymorphisms (FokI) in an Iranian general population based study (Kurdistan) (IMOS).

Publications

Prevalence of osteoporosis and vitamin D receptor gene polymorphisms (FokI) in an Iranian general population based study (Kurdistan) (IMOS).

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