RGD Reference Report - Genetic variation in aldosterone synthase predicts plasma glucose levels. - Rat Genome Database

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Genetic variation in aldosterone synthase predicts plasma glucose levels.

Authors: Ranade, K  Wu, KD  Risch, N  Olivier, M  Pei, D  Hsiao, CF  Chuang, LM  Ho, LT  Jorgenson, E  Pesich, R  Chen, YD  Dzau, V  Lin, A  Olshen, RA  Curb, D  Cox, DR  Botstein, D 
Citation: Ranade K, etal., Proc Natl Acad Sci U S A. 2001 Nov 6;98(23):13219-24. Epub 2001 Oct 30.
RGD ID: 2307297
Pubmed: PMID:11687612   (View Abstract at PubMed)
PMCID: PMC60851   (View Article at PubMed Central)
DOI: DOI:10.1073/pnas.221467098   (Journal Full-text)

The mineralocorticoid hormone, aldosterone, is known to play a role in sodium homeostasis. We serendipitously found, however, highly significant association between single-nucleotide polymorphisms in the aldosterone synthase gene and plasma glucose levels in a large population of Chinese and Japanese origin. Two polymorphisms--one in the putative promoter (T-344C) and another resulting in a lysine/arginine substitution at amino acid 173, which are in complete linkage disequilibrium in this population--were associated with fasting plasma glucose levels (P = 0.000017) and those 60 (P = 0.017) and 120 (P = 0.0019) min after an oral glucose challenge. A C/T variant in intron 1, between these polymorphisms, was not associated with glucose levels. Arg-173 and -344C homozygotes were most likely to be diabetic [odds ratio 2.51; 95% confidence interval (C.I.) 1.39-3.92; P = 0.0015] and have impaired fasting glucose levels (odds ratio 3.53; 95% C.I. 2.02-5.5; P = 0.0000036). These results suggest a new role for aldosterone in glucose homeostasis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP11B2Humandiabetes mellitus  IAGP DNA:polymorphisms:5' utr more ...RGD 
Cyp11b1Mousediabetes mellitus  ISOCYP11B2 (Homo sapiens)DNA:polymorphisms:5' utr more ...RGD 
Cyp11b3Ratdiabetes mellitus  ISOCYP11B2 (Homo sapiens)DNA:polymorphisms:5' utr more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP11B2HumanGlucose intolerance  IAGP DNA:polymorphisms:promoter:-344C>T and p.K173RRGD 
Objects Annotated

Genes (Rattus norvegicus)
Cyp11b3  (cytochrome P450, family 11, subfamily b, polypeptide 3)

Genes (Mus musculus)
Cyp11b1  (cytochrome P450, family 11, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP11B2  (cytochrome P450 family 11 subfamily B member 2)

Objects referenced in this article
Gene Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 Mus musculus
Gene Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 Rattus norvegicus

Additional Information