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Open Access Research article

Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population

Francesca Gori1*, Claudia Specchia12, Silvia Pietri1, Luisa Crociati1, Simona Barlera1, Monica Franciosi3, Antonio Nicolucci3, Stefano Signorini4, Paolo Brambilla45, Maria Grazia Franzosi1 and GISSI Prevenzione Investigators and SIBioC-GISSI Prevenzione Group

Author Affiliations

1 Department of Cardiovascular Research, "Mario Negri" Institute for Pharmacological Research, Milano, Italy

2 Department of Biomedical Sciences and Biotechnologies, University of Brescia, Brescia, Italy

3 Consorzio Mario Negri Sud, Santa Maria Imbaro, Italy

4 University Department of Laboratory Medicine, Hospital of Desio, Milano, Italy

5 University of Milano-Bicocca, Medical School DMS, Milano, Italy

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BMC Medical Genetics 2010, 11:60  doi:10.1186/1471-2350-11-60

Published: 19 April 2010

Abstract

Background

A genomic region on chromosome 9p21 has been identified as closely associated with increased susceptibility to coronary artery disease (CAD) and to type 2 diabetes (T2D) although the evidence suggests that the genetic variants within chromosome 9p21 that contribute to CAD are different from those that contribute to T2D.

We carried out an association case-control study in an Italian population to test the association between two single nucleotide polymorphisms (SNPs) on the 9p21 locus, rs2891168 and rs10811661, previously reported by the PROCARDIS study, and respectively myocardial infarction (MI) and T2D. Our aim was to confirm the previous findings on a larger sample and to verify the independence of their susceptibility effects: rs2891168 associated with MI but not with T2D and rs10811661 associated with T2D but not with MI.

Methods

Genomic DNA samples of 2407 Italians with T2D (602 patients), who had had a recent MI (600), or had both diseases (600) and healthy controls (605) were genotyped for the two SNPs. The genotypes were determined by allelic discrimination using a fluorescent-based TaqMan assay.

Results

SNP rs2891168 was associated with MI, but not with T2D and the G-allele odds ratio (OR) was 1.20 (95% CI 1.02-1.41); SNP rs10811661 was associated with T2D, but not with MI, and the T-allele OR was 1.27 (95% CI 1.04-1.55). ORs estimates from the present study and the PROCARDIS study were pooled and confirmed the previous findings, with greater precision.

Conclusions

Our replication study showed that rs2891168 and rs10811661 are independently associated respectively with MI and T2D in an Italian population. Pooling our results with those reported by the PROCARDIS group, we also obtained a significant result of association with diabetes for rs10811661 in the European population.