Abstract
Abdominal aortic aneurysm (AAA) is among a number of vascular disorders to be recently associated with a common allelic variant situated on chromosome 9p21. To further assess the significance of this region of the genome in AAA development, we genotyped the sequence variation tagged by rs10757278 in two geographically independent cohorts of patients and compared them to matched controls. We also assessed the impact of this variant on AAA growth rate in cohorts with a median surveillance period of 3.2 and 4.5 years. Using meta-analysis to combine the findings of both cohorts, we found a significant association between rs10757278-G and the presence of AAA (OR (95%CI) 1.38 (1.04–1.82) P=0.03), an effect size completely consistent with that originally reported. rs10757278 was not significantly associated with altered AAA growth rate in either cohort.
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Acknowledgements
The UK cohort received support from the British Heart Foundation (FS/04/012:RG2005/014) and the Scott Research Unit, Chichester. The WA study was supported by NHMRC Project Grant 303232 and National Institutes of Health Grant 1R01HL080010-01. Special thanks to all men and staff who participated in the Chichester AAA screening program, WA AAA Program and the Health in Men Study. PN and JG are supported by NHMRC Practitioner Fellowships 458505 and 431503. We thank Mrs Vicky Phillips for her highly skilled technical assistance and patient recruitment. Hilary Ashton and Stephanie Druce, Scott Research Unit, Chichester, for their support in patient recruitment and data collection. Ms Jade Hampel for genotyping assistance of the Australian samples and staff at the cardiovascular genetics department, UCL for their technical support in genotyping the UK cohort.
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Thompson, A., Golledge, J., Cooper, J. et al. Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion. Eur J Hum Genet 17, 391–394 (2009). https://doi.org/10.1038/ejhg.2008.196
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DOI: https://doi.org/10.1038/ejhg.2008.196
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