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Association of non-synonymous variants in WIPF3 and LIPA genes with ab- dominal aortic aneurysm： an autopsy study

Journal of Geriatric Cardiology 2016年第12期13卷 960-967页

作者： Yuko Maeda Noriko Sato Makiko Naka-Mieno Seijiro Mori Tomio Arai Masashi Tanaka Masaaki Muramatsu Motoji Sawabe Department of Molecular Epidemiology Medical Research Institute Tokyo Medical and Dental University Tokyo Japan Department of Medical Informatics Center of Inormation Jichi Medical University Tochigi Japan Center for Promotion of Clinical Investigation Tokyo Metropolitan Geriatric Hospital Tokyo Japan Department of Pathology Tokyo Metropolitan Geriatric Hospital Tokyo Japan Research Teams for Geriatric Pathology Tokyo Metropolitan Institute of Gerontology Tokyo Japan Department of Genomics for Longevity and Health Tokyo Metropolitan Institute of Gerontology Tokyo Japan Department of Molecular Pathology Graduate School of Health Care Sciences Tokyo Medical and Dental University Tokyo Japan

Background Abdominal aortic aneurysm （AAA） is a multifactorial disease with strong genetic components. Various genetic loci have been associated with clinical AAA, but few studies have investigated pathological AAA, an intermediate phenotype of the disease. Methods We examined 2263 consecutive autopsies of older Japanese subjects from a study on geriatric diseases in Japanese individuals （The JG-SNP study）. The presence of AAA was determined with a pathological diagnosis during autopsy. Single nucleotide variants （SNVs） associated with AAA were determined with an Illumina HumanExome Beadchip array. Logistic regression analyses were performed to determine ge- netic associations. Age, gender, and other risk factors of AAA were analyzed as covariates. Results 118 subjects with AAA and 2145 sub- jects without AAA were analyzed in a case-control setting. No variants reached significance after applying the Bonferroni correction （P 〈 2.05×10^-6）. The strongest associations were found with rs3750092 （p.E321G, OR： 0.36, 95% CI： 0.24-0.56, P = 6.09 ×10^-6）, a variant in the WAS/WASL interacting protein family 3 （WIPF3）, and with rs1051338 （p.T16P, OR： 2.50, 95% CI： 1.70-3.66, P = 2.79 ×10^-6） and rs2246942 （intronic, OR： 2.32, 95% CI： 1.58-3.41, P = 1.61 ×10^-5）, variants in the lysosomal acid lipase a （LIPA）. LIPA is essential for macrophage cholesterol metabolism. Immunohistological analyses of WIPF3 protein in AAA samples from three subjects revealed that WIPF3 was expressed in macrophages ofatheromatous plaques. Conclusions This study suggests that WIPF3 and LIPA, both of which are expressed in the macrophages are involved in pathological AAA. These results should be regarded as hypothesis-generating; thus, replication study is warranted.

关键词： Abdominal aortic aneurysm lysosomal acid lipase a WAS/WASL interactingproteinfamily 3

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