RGD Reference Report - Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. - Rat Genome Database

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Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.

Authors: Bailey, R  Cooper, JD  Zeitels, L  Smyth, DJ  Yang, JH  Walker, NM  Hypponen, E  Dunger, DB  Ramos-Lopez, E  Badenhoop, K  Nejentsev, S  Todd, JA 
Citation: Bailey R, etal., Diabetes. 2007 Oct;56(10):2616-21. Epub 2007 Jul 2.
RGD ID: 2307311
Pubmed: PMID:17606874   (View Abstract at PubMed)
PMCID: PMC2493063   (View Article at PubMed Central)
DOI: DOI:10.2337/db07-0652   (Journal Full-text)

OBJECTIVE: Epidemiological studies have linked vitamin D deficiency with the susceptibility to type 1 diabetes. Higher levels of the active metabolite 1 alpha,25-dihydroxyvitamin D (1 alpha,25(OH)(2)D) could protect from immune destruction of the pancreatic beta-cells. 1 alpha,25(OH)(2)D is derived from its precursor 25-hydroxyvitamin D by the enzyme 1 alpha-hydroxylase encoded by the CYP27B1 gene and is inactivated by 24-hydroxylase encoded by the CYP24A1 gene. Our aim was to study the association between the CYP27B1 and CYP24A1 gene polymorphisms and type 1 diabetes. RESEARCH DESIGN AND METHODS: We studied 7,854 patients with type 1 diabetes, 8,758 control subjects from the U.K., and 2,774 affected families. We studied four CYP27B1 variants, including common polymorphisms -1260C>A (rs10877012) and +2838T>C (rs4646536) and 16 tag polymorphisms in the CYP24A1 gene. RESULTS: We found evidence of association with type 1 diabetes for CYP27B1 -1260 and +2838 polymorphisms, which are in perfect linkage disequilibrium. The common C allele of CYP27B1 -1260 was associated with an increased disease risk in the case-control analysis (odds ratio for the C/C genotype 1.22, P = 9.6 x 10(-4)) and in the fully independent collection of families (relative risk for the C/C genotype 1.33, P = 3.9 x 10(-3)). The combined P value for an association with type 1 diabetes was 3.8 x 10(-6). For the CYP24A1 gene, we found no evidence of association with type 1 diabetes (multilocus test, P = 0.23). CONCLUSIONS: The present data provide evidence that common inherited variation in the vitamin D metabolism affects susceptibility to type 1 diabetes.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP27B1Humantype 1 diabetes mellitus susceptibilityIAGP DNA:polymorphisms:promoter more ...RGD 
Cyp27b1Rattype 1 diabetes mellitus susceptibilityISOCYP27B1 (Homo sapiens)DNA:polymorphisms:promoter more ...RGD 
Cyp27b1Mousetype 1 diabetes mellitus susceptibilityISOCYP27B1 (Homo sapiens)DNA:polymorphisms:promoter more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp27b1  (cytochrome P450, family 27, subfamily b, polypeptide 1)

Genes (Mus musculus)
Cyp27b1  (cytochrome P450, family 27, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP27B1  (cytochrome P450 family 27 subfamily B member 1)


Additional Information