Vitamin D receptor genotype influences parathyroid hormone and calcitriol levels in predialysis patients

Marco, Maria Paz; Martínez, Isabel; Amoedo, Maria Luisa; Borràs, Mercè; Saracho, Ramón; Almirall, Jaume; Fibla, Joan; Fernàndez, Elvira

doi:10.1046/j.1523-1755.1999.00678.x

Cited by 40 publications

(26 citation statements)

References 18 publications

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“…The lengths of the amplified sequences are identical and, using our method, it cannot therefore be decided whether there are one or two BsmI restriction sites in heterozygous individuals. This characteristic of the VDR gene has not been mentioned in the interpretation of previous data (11,13,18,22,23). Further investigation is needed to clarify whether only one or both of the two 'b' alleles are present in diabetic 'b' þ 'a' þ 'u'-positive girls who are heterozygous for the 'Bb' alleles.…”

Section: Discussionmentioning

confidence: 88%

“…According to specific data, VDR polymorphisms are associated with plasma calcitriol levels (13), parathyroid calcium response and calcium sensor protein (14)(15)(16), and urinary calcium excretion (17). Polymorphisms do have an impact on hyperparathyroidism (13,14,18,19), Graves' disease (20), bone mass and turnover (12,21), primary biliary cirrhosis (22), oncogene expression and rectal cancer prognosis (23).…”

Section: Introductionmentioning

confidence: 99%

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Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus

Győrffy

Vásárhelyi

Krikovszky

et al. 2002

European Journal of Endocrinology

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Objective: Recent data have indicated the significance of vitamin D receptor (VDR) polymorphisms in type 1 diabetes mellitus (T1DM). We have studied the association of five known restriction enzyme polymorphisms of the VDR gene in patients with T1DM. Design and Methods: One hundred and seven children with T1DM (T1DM for 5 years; age, 1-14 years; boys/girls, 57/50; body mass index, 17:0^2:3 kg=m 2 ; haemoglobin A Ic (HbA Ic ), 7:87^1:05) and 103 healthy subjects were enrolled. The VDR polymorphisms ApaI, BsmI, FokI, TaqI and Tru9I ('a', 'b', 'f ', 't' and 'u' alleles respectively) were investigated. Results: The 't' and 'T' alleles miss the Hardy -Weinberg equilibrium ðP , 0:01Þ in control and diabetic populations; we therefore excluded this polymorphism from further analysis. We did not find a difference in the allele prevalence in T1DM patients and controls of any of the five polymorphisms. However, when the 'b', 'a' and 'u' alleles were simultaneously compared in girls, there was a significantly higher prevalence in patients with diabetes compared with controls ('b' þ 'a' þ 'u' present/absent: healthy, 0/53; diabetic, 13/37; P , 0:005). In boys the prevalence of 'b' þ 'a' þ 'u' genotype was similar in T1DM and controls. Conclusions: The impact of the 't' allele cannot be investigated in this study population. Not a single VDR polymorphism increases the susceptibility to T1DM. The common presence of the 'b', 'a' and 'u' alleles greatly increases the probability of T1DM in girls.

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Section: Discussionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus

Győrffy

Vásárhelyi

Krikovszky

et al. 2002

European Journal of Endocrinology

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“…17 We have observed BB genotypes of Bsm1 were strongly associated with ESRD, indicating production of truncated protein and hence less binding with the vitamin D receptor, which may lead to ESRD. The Taq1 polymorphism may cause a silent mutation in exon 9, with ATT and ATC both coding for isoleucine, 18 thus not affecting the mRNA transcripts. Such types of associations have been reported in type 2 diabetes from north India.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor genetic variants among patients with end-stage renal disease

Tripathi

Sharma

et al. 2010

Renal Failure

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Back ground and objectives: Vitamin D receptor (VDR) gene polymorphism is reported to be associated with end-stage renal disease (ESRD). We have investigated the potential role of VDR gene polymorphisms among ESRD. Design and methods: The influence of VDR gene polymorphism in 258 ESRD patients comprising of 226 (87.5%) male and 32 (12.5%) females was investigated in this study. We compared ESRD patients with 569 healthy controls. The distribution of male and female among controls was 485 (85.3%) males and 84 (14.7%) females. This polymorphism was studied by using polymerase chain reaction (PCR). The product was digested by using restriction enzymes Apa1, Taq1, Fok1, and Bsm1. Results: We observed a significant difference in the genotype frequencies of the Apa1-aa (p = 0.0001, OR = 2.1, 95% CI = 1.45-3.08), Fok1-ff (p = 0.001, OR = 3.44, 95% CI = 1.76-6.76), and Bsm1-BB (p = 0.0004, OR = 6.8, 95% CI = 2.2-21.58). At allelic level B allele of Bsm1 was significantly different among ESRD patients as compared to controls (p = 0.0001). The combined analysis revealed that ESRD patients with Fok1 and Bsm1 polymorphism were at increased risk of 4.33-fold. The haplotype analysis revealed individuals with a/t/F/b haplotype were at greater risk of 11.0-fold (95% CI = 1.38-87.69). The serum calcium levels were significantly higher (p = 0.001) in Bsm1 "BB" genotype. Interpretations and conclusions: Bsm1 and Fok1 gene polymorphism of VDR gene were associated with ESRD among north Indians.

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“…24 Even the VDR FokI polymorphism has been reported to affect serum PTH levels in CRF patients. Indeed, patients with the FF genotype had significantly higher PTH levels (16.8 6 2.7 pmol/L) than those with Ff or ff genotype (11.3 6 2.0 and 8.2 6 1.6 pmol/L, respectively).…”

Section: Vdr Polymorphisms In Ckdmentioning

confidence: 99%

Vitamin D Receptor Polymorphism in Chronic Kidney Disease Patients With Complicated Cardiovascular Disease

Santoro

Lucisano

Gagliostro

et al. 2015

Journal of Renal Nutrition

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Vitamin D receptor genotype influences parathyroid hormone and calcitriol levels in predialysis patients

Abstract: The progression of hyperparathyroidism is slower in predialysis patients with BB genotypes than in the other genotypes. Also, calcitriol levels are less reduced in the BB genotype, which may act to lessen the severity of secondary hyperparathyroidism.

Cited by 40 publications

References 18 publications

Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus

Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus

Vitamin D receptor genetic variants among patients with end-stage renal disease

Vitamin D Receptor Polymorphism in Chronic Kidney Disease Patients With Complicated Cardiovascular Disease

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