Relationship between vitamin D receptor BsmI and FokI polymorphisms and anthropometric and biochemical parameters describing metabolic syndrome

Filus, Alicja; Trzmiel, Anna; Kuliczkowska-Płaksej, Justyna; Tworowska, Urszula; Jędrzejuk, Diana; Milewicz, Andrzej; Mędraś, M

doi:10.1080/13685530802273426

Cited by 108 publications

(93 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Gender, age, presence of diabetes mellitus, smoking status, blood pressure, total cholesterol, and HDL cholesterol were included in the model because they were identified as classical cardiovascular risk factors (23). In addition, blood pressure, BMI, and 25(OH)D were included in the model because these variables might mediate the relationship between VDR genotypes and mortality whereas these variables are associated with both VDR genotypes (8,9,(24)(25)(26) and mortality (27,28).…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, specific combinations of these polymorphisms, so-called haplotypes, have been identified as a risk factor for fractures (7). Beside effects on bone metabolism, VDR polymorphisms, in particular BsmI, are associated with cardiovascular risk factors such as increased blood pressure, an unfavorable lipid profile (8,9), increased left ventricular mass in hemodialysis patients (10), and intimal medial thickening of the carotid artery (11). In addition, VDR polymorphisms have been related to an increased risk of myocardial infarction (12) and diabetes mellitus type 2 (13)(14)(15).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

Jongh

Lips

Rijs

et al. 2011

European Journal of Endocrinology

View full text Add to dashboard Cite

Context: Vitamin D receptor (VDR) polymorphisms are associated with a variety of diseases, which may translate into an effect on mortality. Objective: To investigate the associations between VDR gene variants and mortality among older people. Design: The analyses were conducted in a population-based, prospective cohort of the Longitudinal Aging Study Amsterdam. Adequate DNA analysis was performed in 923 men and women (R65 years). We aimed to assess the associations between mortality and the VDR polymorphism FokI, three haplotypes of the Cdx2 and GATA polymorphisms, and three haplotypes of the BsmI, ApaI, and TaqI polymorphisms. Results: During the median follow-up of 10.7 years, 480 participants deceased (51%). Homozygosity for the Cdx2-GATA haplotype 1 allele was associated with a 30% higher mortality risk compared to the absence of alleles (hazard ratios (HR) 1.30, 95% confidence intervals (CI) 1.01-1.68). Adjustment for cardiovascular risk factors and 25-hydroxyvitamin D levels did not affect this HR. The number of copies of the Cdx2-GATA haplotype 1 allele was associated, although not significantly, with an increased risk of osteoporotic fractures (0 copiesZreference, HR, 95% CI: 1 copy 2.01, 0.99-4.07 and 2 copies 1.81, 0.87-4.18). After adjustment for osteoporotic fractures, homozygosity for the Cdx2-GATA haplotype 1 allele was no longer associated with higher mortality risk (HR 1.08, 95% CI 0.83-1.41).

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

Jongh

Lips

Rijs

et al. 2011

European Journal of Endocrinology

View full text Add to dashboard Cite

show abstract

“…Among such VDR polymorphisms, Fok1, Taq1, Bsm-I, EcoRV, and ApaI are suspected to alter the activity of the VDR protein (6,7) and to modulate susceptibility to T2DM. VDR binds vitamin D, a secosteroid hormone ingested in the diet or synthesized in the skin when 7-dehydrocholesterol reacts with UVB light.…”

mentioning

confidence: 99%

Vitamin D Receptor Gene Polymorphisms and HLA DRB1*04 Cosegregation in Saudi Type 2 Diabetes Patients

Al-Daghri

Al‐Attas

Alokail

et al. 2012

The Journal of Immunology

View full text Add to dashboard Cite

The vitamin D receptor (VDR) gene has been involved in the modulation of susceptibility to inflammatory and autoimmune conditions, and could play a role in the pathogenesis of type 2 diabetes mellitus (T2DM). Susceptibility to T2DM was recently also suggested to associate with HLA alleles. We evaluated possible correlations between VDR polymorphisms, HLA alleles, and risk for development of T2DM by analyzing 627 individuals (368 T2DM patients and 259 healthy control subjects) part of a well-characterized cohort followed in Riyadh, Kingdom of Saudi Arabia. Genomic DNA was genotyped for the VDR gene single nucleotide polymorphisms of Fok-1, Taq-1, ApaI, and Bsm-I. Analyses were run by allelic discrimination real-time PCR. HLA genotyping was performed as well by PCR using sequence-specific primers, whereas cytokine production was evaluated by FACS. Results showed T2DM to be significantly associated with the VDR Taq1 (rs731236-AG) and Bsm-I (rs1544410-CT) genotypes, and the VDR rs1544410-T allele. Cosegregations resulting in significant increases of T2DM odds ratio were detected between Taq1 and Bsm-I VDR polymorphisms and HLA DRB1*04. Notably, the VDR polymorphisms observed to be more frequent in T2DM patients correlated with increased VDR expression and IL-12 production, as well as with metabolic parameters of susceptibility to T2DM, including serum cholesterol and high-density lipoprotein levels. VDR polymorphisms are present in T2DM, and correlate with HLA DRB1*04 and with immunologic and metabolic parameters; results from this study add T2DM to the list of diseases that are likely modulated by an HLA/VDR interaction.

show abstract

“…Polymorphisms such as BsmI and FokI have been demonstrated in altering the activity of VDR protein (Filus et al, 2008). Some polymorphisms in the VDR gene were identified by allelic variation in restriction enzyme sites and are located between exons 8 and 9 such as Tru9I, TaqI, EcoRV, and ApaI (Naito et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Association of Apa I polymorphism of vitamin d receptor gene with type 2 diabetes mellitus in Saudi population

Iyer¹,

New²,

Khoja³

et al. 2017

JEBAS

View full text Add to dashboard Cite

KEYWORDS VDR ApaI ABSTRACTVitamin D deficiency has been associated with the acceleration of the onset of T2DM. The biological effects of vitamin D are mediated by binding to the vitamin D receptor (VDR) which belongs to the steroid receptor superfamily. Although many polymorphisms exist in the VDR gene, their effect on VDR protein function and signalling is unknown. An association between VDR polymorphism and T2DM has been reported in some studies; however, it appears to vary across different populations around the world. Hence this study was carried out to investigate the relationship between VDR gene polymorphisms at three restriction sites ApaI, BsmI, and TaqI and the risk of T2DM in Saudi population. The volunteers were classified according to Fasting Blood Glucose (FBG) test as two groups, T2DM and normal group. The VDR gene was amplified by polymerase chain reaction (PCR). PCR products were digested using restriction enzymes: ApaI, TaqI, and BsmI and the bands were visualised by agarose gel electrophoresis and ethidium bromide dye under UV. The results of the current study showed a significant difference in genotypes and allele frequencies of the VDR gene polymorphisms at the ApaI site between T2DM patients and control groups.

show abstract

Relationship between vitamin D receptor BsmI and FokI polymorphisms and anthropometric and biochemical parameters describing metabolic syndrome

Abstract: The BsmI VDR polymorphism seems to influence BMI, while the FokI VDR polymorphism appears to affect insulin sensitivity and serum cHDL level.

Cited by 108 publications

References 22 publications

Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

Associations between vitamin D receptor genotypes and mortality in a cohort of older Dutch individuals

Vitamin D Receptor Gene Polymorphisms and HLA DRB1*04 Cosegregation in Saudi Type 2 Diabetes Patients

Association of Apa I polymorphism of vitamin d receptor gene with type 2 diabetes mellitus in Saudi population

Contact Info

Product

Resources

About