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.

19q13, Abdominal aortic aneurysm, Association study, Linkage analysis, Single nucleotide polymorphism,
Erasmus MC: University Medical Center Rotterdam

Baas, A.F, Medic, J, Van'T Slot, R, de Vries, J.-P.P.M, 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