Noncoding Variations in the Gene Encoding Ceramide Synthase 6 are Associated with Type 2 Diabetes in a Large Indigenous Australian Pedigree.
Twin Res Hum Genet
; 22(2): 79-87, 2019 04.
Article
in En
| MEDLINE
| ID: mdl-31012404
ABSTRACT
Type 2 diabetes (T2D) is a chronic disease that disproportionately affects Indigenous Australians. We have previously reported the localization of a novel T2D locus by linkage analysis to chromosome 2q24 in a large admixed Indigenous Australian pedigree (Busfield et al. (2002). American Journal of Human Genetics, 70, 349-357). Here we describe fine mapping of this region in this pedigree, with the identification of SNPs showing strong association with T2D rs3845724 (diabetes p = 7 × 10-4), rs4668106 (diabetes p = 9 × 10-4) and rs529002 (plasma glucose p = 3 × 10-4). These associations were successfully replicated in an independent collection of Indigenous Australian T2D cases and controls. These SNPs all lie within the gene encoding ceramide synthase 6 (CERS6) and thus may regulate ceramide synthesis.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Genetic Predisposition to Disease
/
Diabetes Mellitus, Type 2
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Sphingosine N-Acyltransferase
/
Genome-Wide Association Study
/
Membrane Proteins
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
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Male
/
Middle aged
Country/Region as subject:
Oceania
Language:
En
Journal:
Twin Res Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article
Affiliation country:
Australia