Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes

Ongagna, Jean-Claude; Pinget, M.; Belcourt, A.

doi:10.1016/j.clinbiochem.2004.12.013

Cited by 42 publications

(30 citation statements)

References 23 publications

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“…However, Thp1, HepG2, Kyn2, and HL60 cells have at least one allele mutated for the MET1thr polymorphism of VDR which is associated with susceptibility to diabetes (Marti et al 2004;Zemunik et al 2005;Capoluongo et al 2006). Finally, GC haplotype including the 416glu variant, which is also associated with susceptibility to type I diabetes (Ongagna et al 2005), was found in Thp1, HL60, K562, HepG2, and Caco2 cell lines.…”

Section: Genetic Profile Of Genes Associated With Coagulation and Othmentioning

confidence: 97%

Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology

et al. 2008

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Section: Genetic Profile Of Genes Associated With Coagulation and Othmentioning

confidence: 97%

Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology

et al. 2008

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“…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%

“…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%

“…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]. Nevertheless, it has to be pointed out that several DBP/GC combinations of SNPs are conserved in the population forming a diverse profile of haplotypes.…”

Section: Vitamin D Pathwaysmentioning

confidence: 99%

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Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Penna-Martinez

Badenhoop

2017

Genes

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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.

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“…VDBP also associates with membranebound immunoglobulin on the surface of B lymphocytes and with IgG Fc receptors on the membranes of T lymphocytes, suggesting its possible role in the immunopathogenesis and progression of the disease. Furthermore, an association of VDBP with type 1 and type 2 diabetes, glucose intolerance, hypoinsulinemia/ hyperinsulinemia, and/or insulin resistance and pregnancy associated-diabetes was reported in Dogrib Indians (14), American Anglos and Hispanics (15), Pima Indians (16), Japanese (17,18), Russians (19), Polynesian Island populations (20), Alsacian French (21,22), Bantu (23), and Finnish populations (24). VDBP was also found in the vitreous in diabetic macular edema, along with pigment epithelium-derived factor, apoA-4, apoA-1, trip-11, and plasma retinol-binding protein (RBP).…”

Section: Downregulated Urinary Proteins In Diabetic Nephropathymentioning

confidence: 99%

Proteomic Identification of Urinary Biomarkers of Diabetic Nephropathy

et al. 2007

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OBJECTIVE -Diabetic nephropathy is a serious complication of both type 1 and type 2 diabetes, and, unless arrested, leads to end-stage renal disease. Current diagnosis consists of urine assays of microalbuminuria, which have inadequate specificity and sensitivity.RESEARCH DESIGN AND METHODS -We used proteomic analyses to identify novel biomarkers of nephropathy in urine from type 2 diabetic patients with demonstrated normo-, micro-, or macroalbuminuria. Samples were analyzed by fluorescence two-dimensional (2-D) differential in-gel electrophoresis (DIGE), and protein identification was performed by liquid chromatography-tandem mass spectrometry.RESULTS -2-D DIGE analysis of the urinary proteome in diabetes with nephropathy identified 195 protein spots representing 62 unique proteins. These proteins belonged to several functional groups, i.e., cell development, cell organization, defense response, metabolism, and signal transduction. Comparisons between control and diabetic subjects with different stages of renal dysfunction revealed the differential expression of several proteins. Spot volume quantification identified 7 proteins that were progressively upregulated with increasing albuminuria and 4 proteins that exhibited progressive downregulation. The majority of these potential candidate biomarkers were glycoproteins.CONCLUSIONS -These data demonstrate the ability of proteomic analyses to reveal potential biomarkers for diabetic nephropathy in urine, an important step forward in advancing accurate diagnosis and our understanding of disease mechanisms. Diabetes Care 30:629 -637, 2007

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Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes

Cited by 42 publications

References 23 publications

Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology

Genetic profiling of human cell lines used as in vitro model to study cardiovascular pathophysiology and pharmacotoxicology

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Proteomic Identification of Urinary Biomarkers of Diabetic Nephropathy

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