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Lookup NU author(s): Dr Sheila Patel, Professor Mark Walker
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Aims/hypothesis: Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes. Rare mutations in the ALMS1 gene cause severe gene disruption in Alström patients; however, ALMS1 gene polymorphisms are common in the general population. The aim of our study was to determine whether common variants in ALMS1 contribute to susceptibility to type 2 diabetes in the UK population. Methods: Direct sequencing was performed on coding regions and intron/exon boundaries of the ALMS1 gene in 30 unrelated probands with type 2 diabetes. The linkage disequilibrium (LD; D′ and r2) and haplotype structure were examined for the identified variants. The common (minor allele frequency [MAF] >5%) single-nucleotide polymorphisms tagging the common haplotypes (tagged SNPs [tSNPs]) were identified and genotyped in 1985 subjects with type 2 diabetes, 2,047 control subjects and 521 families. Results: We identified 18 variants with MAF between 6 and 38%. Three SNPs efficiently tagged three common haplotypes (rs1881245, rs3820700 and rs1320374). There was no association (all p>0.05) between the tSNPs and type 2 diabetes in the case-control study and minor alleles of the tSNPs were not overtransmitted to probands with type 2 diabetes in the family study. Conclusions/interpretation: Common variations in the ALMS1 gene were not associated with type 2 diabetes in a large study of a white UK population. © Springer-Verlag 2006.
Author(s): Patel S, Minton JAL, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG
Publication type: Article
Publication status: Published
Journal: Diabetologia
Year: 2006
Volume: 49
Issue: 6
Pages: 1209-1213
ISSN (print): 0012-186X
ISSN (electronic): 1432-0428
Publisher: Springer
URL: http://dx.doi.org/10.1007/s00125-006-0227-2
DOI: 10.1007/s00125-006-0227-2
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