Background: Abdominal aortic aneurysm (AAA) is a complex disorder in which environmental and genetic factors play a role in pathogenesis. Linkage to 2 adjacent loci on 19q13 in familiar AAA was previously demonstrated. We studied whether genetic variation within these regions predisposes to AAA. Methods: Common genetic variants in the described regions on 19q13 were analyzed using tag single nucleotide polymorphisms (SNPs) in a Dutch case-control population. Single nucleotide polymorphism genotyping was performed in a 2-stage approach. Results: In stage 1, 615 SNPs were genotyped in 376 AAA patients and 648 controls. In stage 2, 8 SNPs of stage 1 with a P value <.015 were genotyped in a second independent cohort of 360 cases and 376 controls. No differences in allele frequencies were observed. Conclusion: Our findings suggest that there are no common AAA predisposing SNPs within the 19q13 loci. Hence, the genetic basis of familiar and sporadic AAA may differ.

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Keywords 19q13, Abdominal aortic aneurysm, Association study, Linkage analysis, Single nucleotide polymorphism
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Journal Angiology
Baas, A.F, Medic, J, Van'T Slot, R, de Vries, J.P, van Sambeek, M.R.H.M, Geelkerken, B.H, … Blankensteijn, J.D. (2010). Association study of single nucleotide polymorphisms on chromosome 19q13 with abdominal aortic aneurysm. Angiology, 61(3), 243–247. doi:10.1177/0003319709354752