Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Klupa, Tomasz; Małecki, Maciej; Hanna, Linda S.; Sieradzka, J; Frey, Jakub; Warram, J. H.; Sieradzki, Jacek; Królewski, A. S.

doi:10.1530/eje.0.1410490

Cited by 40 publications

(32 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Significant associations between DBP and T2DM were found in the Asian population 1115 16 In Caucasians, however, similar conclusions were not found 12–14. So it is possible for us to believe that the effect of variations of DBP on the development of T2DM is peculiar to the Asian population, which is identical to the conclusion of our meta-analysis, in which results of the subgroup analysis showed that individuals carrying the Lys allele or Lys/Thr+Lys/Lys, Lys/Thr genotypes had more risk for T2DM in the Asian population.…”

Section: Discussionmentioning

confidence: 85%

Association of the vitamin D binding protein polymorphisms with the risk of type 2 diabetes mellitus: a meta-analysis

Wang

et al. 2014

BMJ Open

View full text Add to dashboard Cite

ObjectivePrevious studies on the association between vitamin D binding protein (DBP) polymorphisms and the risk of type 2 diabetes mellitus (T2DM) have produced conflicting results. The purpose of this meta-analysis was to examine whether DBP polymorphisms are associated with the risk of T2DM.DesignSystematic review and meta-analysis.MethodsAll eligible studies were searched and acquired from the Cochrane, Pubmed, ISI, CNKI (Chinese) and Wanfang (Chinese) databases. ORs with corresponding 95% CIs were computed to estimate the association between DBP polymorphisms and T2DM. In addition, heterogeneity test, meta-regression and sensitivity analysis were also conducted.ResultsSix studies, which included 1191 cases and 882 controls, met the inclusion criteria and were included in the meta-analysis. The results showed that no significant associations were found between codon 416 and codon 420 polymorphisms in the DBP and the risk of T2DM in the overall analyses. In stratified analysis, significant associations between the codon 420 polymorphism and T2DM were found in Asians (allele Lys vs Thr: OR (95% CI) 1.49 (1.19 to 1.85), genotype Lys/Thr versus Thr/Thr: OR (95% CI) 1.80 (1.36 to 2.38), and Lys/Thr+Lys/Lys versus Thr/Thr: OR (95% CI) 1.81 (1.37 to 2.39), respectively) but not in Caucasians. For the codon 416, the significant association with T2DM was also detected in Asians (genotype Glu/Asp+Glu/Glu vs Asp/Asp: OR (95% CI) 1.36 (1.04 to 1.78)) but not in Caucasians.ConclusionsThis meta-analysis demonstrated that the DBP polymorphism was moderately associated with increased susceptibility to T2DM in Asians, but a similar association was not found in Caucasians. It suggested that ethnicity might be the potential factor associated with heterogeneity.

show abstract

Section: Discussionmentioning

confidence: 85%

Association of the vitamin D binding protein polymorphisms with the risk of type 2 diabetes mellitus: a meta-analysis

Wang

et al. 2014

BMJ Open

View full text Add to dashboard Cite

show abstract

“…Haplotypes carried by each study individual were inferred by the method of gene counting (16,17). Under the assumptions of Hardy-Weinberg equilibrium and random mating, this iterative procedure yields maximum likelihood estimates of haplotype frequencies in the study population based on the joint distribution of two polymorphic markers.…”

Section: Methodsmentioning

confidence: 99%

Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population

Małecki

Moczulski

Klupa

et al. 2002

European Journal of Endocrinology

Self Cite

View full text Add to dashboard Cite

Objective: The polymorphisms of two genes have recently been associated with complex forms of type 2 diabetes mellitus (T2DM): calpain 10 and peroxisome proliferator-activated receptor-g (PPARg). Calpain 10 is a member of a large family of intracellular proteases. It was shown in Mexican-Americans and other populations that variants of three single nucleotide polymorphisms (SNPs), -43, -19, and -63, of this ubiquitously expressed protein influence susceptibility to T2DM. However, substantial differences were shown between ethnic groups in at risk alleles and haplotypes as well as in their attributable risk. Thus, it is important to determine the role of calpain 10 in various populations. Aim: To examine the role of calpain 10 SNPs -43, -19, and 263 in genetic susceptibility to T2DM in a Polish population. Methods: Overall, 377 individuals were examined: 229 T2DM patients and 148 control individuals. The groups were genotyped for calpain 10 SNP-43, SNP-19, and SNP-63. SNP-19 was examined by electrophoresis of the PCR product on agarose gel by size, while the restriction fragment length polymorphism (RFLP) method was used for the two other markers. Differences in allele, genotype, haplotype, and haplotype combination distribution between the groups were examined by x 2 test. Results: Distributions of alleles, genotypes, and haplotypes at three loci defined by examined SNPs were not significantly different between the groups. However, the homozygote combination of 121 haplotype was more prevalent in the T2DM group than in the controls (17.9% vs 10.1%, P ¼ 0:039). No difference was observed in the 112/121 haplotype distribution. This heterozygous haplotype combination was associated with increased risk of T2DM in several populations. Conclusion:The results of our study suggest the association of calpain 10 121/121 haplotype combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. However, we were not able to confirm the previously described role of the heterozygous 112/121 haplotype combination in susceptibility to T2DM.

show abstract

“…Numerous studies focused on VDR SNPs but only few on other genes of the vitamin D pathway [56,57,67,74,88,89,90,91,92,93,94,95,96,97,98,99]. Table 4 presents a summary of association studies for SNPs within the genes CYP2R1 [57,88], CYP27B1 [57,90,91,93], DBP [96,97] as well as cubilin [99] and T1D.…”

Section: Vitamin D Pathwaysmentioning

confidence: 99%

“…While the rs7041 SNP results in a T to G substitution (Aps to Glu in codon 416), rs4588 SNP leads to a C to G substitution (threonine to lysine in codon 420). The majority of the studies including the SNPs rs4588 and rs7041 and rs2282679 SNP failed to prove an association with T1D [57,67,89,94,95,98]. Two studies, however, originating from the same laboratory showed an association with rs7041 SNP and T1D [96,97].…”

Section: Vitamin D Pathwaysmentioning

confidence: 99%

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Penna-Martinez

Badenhoop

2017

Genes

View full text Add to dashboard Cite

The etiology and pathophysiology of type 1 diabetes remain largely elusive with no established concepts for a causal therapy. Efforts to clarify genetic susceptibility and screening for environmental factors have identified the vitamin D system as a contributory pathway that is potentially correctable. This review aims at compiling all genetic studies addressing the vitamin D system in type 1 diabetes. Herein, association studies with case control cohorts are presented as well as family investigations with transmission tests, meta-analyses and intervention trials. Additionally, rare examples of inborn errors of vitamin D metabolism manifesting with type 1 diabetes and their immune status are discussed. We find a majority of association studies confirming a predisposing role for vitamin D receptor (VDR) polymorphisms and those of the vitamin D metabolism, particularly the CYP27B1 gene encoding the main enzyme for vitamin D activation. Associations, however, are tenuous in relation to the ethnic background of the studied populations. Intervention trials identify the specific requirements of adequate vitamin D doses to achieve vitamin D sufficiency. Preliminary evidence suggests that doses may need to be individualized in order to achieve target effects due to pharmacogenomic variation.

show abstract

Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Cited by 40 publications

References 17 publications

Association of the vitamin D binding protein polymorphisms with the risk of type 2 diabetes mellitus: a meta-analysis

Association of the vitamin D binding protein polymorphisms with the risk of type 2 diabetes mellitus: a meta-analysis

Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Contact Info

Product

Resources

About