Affiliations: Centre for Clinical and Population Sciences, Queen's
University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast,
Northern Ireland, UK | Regional Medical Cardiology Centre, Royal Victoria
Hospital, Grosvenor Road, Belfast, Northern Ireland, UK
Note: [] Corresponding author: Dr. Pascal P. McKeown, Centre for Clinical
and Population Sciences, Queen's University Belfast, Institute of Clinical
Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK. Tel.: +44 28
9063 4825; Fax: +44 28 9031 2907; E-mail: p.p.mckeown@qub.ac.uk
Abstract: Coronary heart disease (CHD) remains a leading cause of death across
the world. A region on chromosome 9p21.3 has been recently reported to be
associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3
region in 1494 individuals from 580 Irish families, where at least 1 member had
early-onset (males ⩽55yr, females
⩽60yr) CHD. Genotypes were determined by multiplex
SNaPshot technology. Using the combined TDT/S-TDT test, the 3 single nucleotide
polymorphisms (SNP), rs10757274, rs2383206 and rs1333049, were strongly
associated with early-onset CHD (p = 2.7 × 10^{-6},
2.7 × 10^{-6},
3.8 × 10^{-7}, respectively).
Analysis of haplotypes by the TRANSMIT program also showed that the GGC
haplotype was associated with early-onset CHD (p = 7.9 ×
10^{-7}). In conclusion, using a family-based approach in the Irish
population, we have confirmed previous reports of association between a region
on chromosome 9p21.3 and early-onset CHD.
