RGD Reference Report - Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol. - Rat Genome Database

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Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol.

Authors: Love-Gregory, L  Sherva, R  Sun, L  Wasson, J  Schappe, T  Doria, A  Rao, DC  Hunt, SC  Klein, S  Neuman, RJ  Permutt, MA  Abumrad, NA 
Citation: Love-Gregory L, etal., Hum Mol Genet. 2008 Jun 1;17(11):1695-704. Epub 2008 Feb 27.
RGD ID: 2307208
Pubmed: PMID:18305138   (View Abstract at PubMed)
PMCID: PMC2655228   (View Article at PubMed Central)
DOI: DOI:10.1093/hmg/ddn060   (Journal Full-text)

A region along chromosome 7q was recently linked to components of the metabolic syndrome (MetS) in several genome-wide linkage studies. Within this region, the CD36 gene, which encodes a membrane receptor for long-chain fatty acids and lipoproteins, is a potentially important candidate. CD36 has been documented to play an important role in fatty acid metabolism in vivo and subsequently may be involved in the etiology of the MetS. The protein also impacts survival to malaria and the influence of natural selection has resulted in high CD36 genetic variability in populations of African descent. We evaluated 36 tag SNPs across CD36 in the HyperGen population sample of 2020 African-Americans for impact on the MetS and its quantitative traits. Five SNPs associated with increased odds for the MetS [P = 0.0027-0.03, odds ratio (OR) = 1.3-1.4]. Coding SNP, rs3211938, previously shown to influence malaria susceptibility, is documented to result in CD36 deficiency in a homozygous subject. This SNP conferred protection against the MetS (P = 0.0012, OR = 0.61, 95%CI: 0.46-0.82), increased high-density lipoprotein cholesterol, HDL-C (P = 0.00018) and decreased triglycerides (P = 0.0059). Fifteen additional SNPs associated with HDL-C (P = 0.0028-0.044). We conclude that CD36 variants may impact MetS pathophysiology and HDL metabolism, both predictors of the risk of heart disease and type 2 diabetes.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Metabolic Syndrome  IAGP 2307208DNA:SNPs: :multiple (human)RGD 
Metabolic Syndrome  ISOCD36 (Homo sapiens)2307208; 2307208DNA:SNPs: :multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormality of lipoprotein cholesterol concentration  IAGP 2307208DNA:SNPs: :multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Cd36  (CD36 molecule)

Genes (Mus musculus)
Cd36  (CD36 molecule)

Genes (Homo sapiens)
CD36  (CD36 molecule (CD36 blood group))


Additional Information