Genome-wide Linkage in Three Dutch Families Maps a Locus for Abdominal Aortic Aneurysms to Chromosome 19q13.3

C.J. van Vlijmen-van Keulen1, J.A. Rauwerda1, G. Pals2
1Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands
2Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

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Lederle, 1997, Prevalence and associations of abdominal aortic aneurysm detected through screening. Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Group, Ann Intern Med, 126, 441, 10.7326/0003-4819-126-6-199703150-00004 Singh, 2001, Prevalence of and risk factors for abdominal aortic aneurysms in a population-based study: the Tromso study, Am J Epidemiol, 154, 236, 10.1093/aje/154.3.236 Scott, 2002, Randomized clinical trial of screening for abdominal aortic aneurysm in women, Br J Surg, 89, 283, 10.1046/j.0007-1323.2001.02014.x Collaborative Aneurysm Screening Study Group (CASS Group), Ashton H, Couto E, Duffy S, Jamrozik K, Lindholt J. A comparative study of the prevalence of abdominal aortic aneurysms in the United Kingdom, Denmark, and Australia. J Med Screen 2001; 8 46–50. Ashton, 2002, The Multicentre Aneurysm Screening Study (MASS) into the effect of abdominal aortic aneurysm screening on mortality in men: a randomised controlled trial, Lancet, 360, 1531, 10.1016/S0140-6736(02)11522-4 1998, Mortality results for randomised controlled trial of early elective surgery or ultrasonographic surveillance for small abdominal aortic aneurysms, Lancet, 352, 1649, 10.1016/S0140-6736(98)10137-X Kniemeyer, 2000, Treatment of ruptured abdominal aortic aneurysm, a permanent challenge or a waste of resources? Prediction of outcome using a multi-organ-dysfunction score, Eur J Vasc Endovasc Surg, 19, 190, 10.1053/ejvs.1999.0980 Strachan, 1991, Predictors of death from aortic aneurysm among middle-aged men: the Whitehall study, Br J Surg, 78, 401, 10.1002/bjs.1800780407 Vardulaki, 2000, Quantifying the risks of hypertension, age, sex and smoking in patients with abdominal aortic aneurysm, Br J Surg, 87, 195, 10.1046/j.1365-2168.2000.01353.x Baird, 1995, Sibling risks of abdominal aortic aneurysm, Lancet, 346, 601, 10.1016/S0140-6736(95)91436-6 van der Graaf, 1998, Results of aortic screening in the brothers of patients who had elective aortic aneurysm repair, Br J Surg, 85, 778, 10.1046/j.1365-2168.1998.00652.x Salo, 1999, Familial occurrence of abdominal aortic aneurysm, Ann Intern Med, 130, 637, 10.7326/0003-4819-130-8-199904200-00003 Darling, 1989, Are familial abdominal aortic aneurysms different?, J Vasc Surg, 10, 39, 10.1016/0741-5214(89)90283-8 Johansen, 1986, Familial tendency for abdominal aortic aneurysms, JAMA, 256, 1934, 10.1001/jama.1986.03380140104031 Kuivaniemi, 2003, Familial abdominal aortic aneurysms: collection of 233 multiplex families, J Vasc Surg, 37, 340, 10.1067/mva.2003.71 Tromp, 1992, DNA sequencing as a method to identify mutations in patients with familial forms of aneurysms, J Vasc Surg, 15, 928, 10.1016/0741-5214(92)90756-X van Vlijmen-van keulen, 2002, Familial abdominal aortic aneurysm: a systematic review of a genetic background, Eur J Vasc Endovasc Surg, 24, 105, 10.1053/ejvs.2002.1692 Shibamura, 2004, Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13, Circulation, 109, 2103, 10.1161/01.CIR.0000127857.77161.A1 Johnston, 1991, J Vasc Surg, 13, 452, 10.1067/mva.1991.26737 van Vlijmen-van keulen, 2003, Genetic linkage of candidate genes in families with abdominal oartic aneurysms?, Eur J Vasc Endovasc Surg, 26, 205, 10.1053/ejvs.2002.1874 van Keulen, 1999, The role of type III collagen in the development of familial abdominal aortic aneurysms, Eur J Vasc Endovasc Surg, 18, 65, 10.1053/ejvs.1999.0864 Olson, 2002, Search for intracranial aneurysm susceptibility gene(s) using Finnish families, BMC Med Genet, 3, 7, 10.1186/1471-2350-3-7 Gudbjartsson, 2000, Allegro, a new computer program for multipoint linkage analysis, Nat Genet, 25, 12, 10.1038/75514 Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat Genet, 11, 241, 10.1038/ng1195-241 Risch, 1990, Linkage strategies for genetically complex traits. I. Multilocus models, Am J Hum Genet, 46, 222 Risch, 1990, Linkage strategies for genetically complex traits. II. The power of affected relative pairs, Am J Hum Genet, 46, 229 Risch, 1990, Linkage strategies for genetically complex traits. III. The effect of marker polymorphism on analysis of affected relative pairs, Am J Hum Genet, 46, 242 Mukhopadhyay, 1999, Mega2, a data handling program for facilitating genetic linkage and association analyses, Am J Hum Genet, 65, A436 Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2 (version 2.3) 2001 http://watson.hgen.pitt.edu. Kumar, 2001, MEGA2: molecular evolutionary genetics analysis software, Bioinformatics, 17, 1244, 10.1093/bioinformatics/17.12.1244 Powell, 2003, Familial clustering of abdominal aortic aneurysm-smoke signals, but no culprit genes, Br J Surg, 90, 1173, 10.1002/bjs.4339 Tromp, 1993, Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms, J Clin Invest, 91, 2539, 10.1172/JCI116490 van Keulen, 2000, The role of type III collagen in family members of patients with abdominal aortic aneurysms, Eur J Vasc Endovasc Surg, 20, 379, 10.1053/ejvs.2000.1193 McMillan, 1999, Increased plasma levels of metalloproteinase-9 are associated with abdominal aortic aneurysms, J Vasc Surg, 29, 122, 10.1016/S0741-5214(99)70363-0 Wang, 1999, Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms, Matrix Biol, 18, 121, 10.1016/S0945-053X(99)00008-6 Carmo, 2002, Alteration of elastin, collagen and their cross-links in abdominal aortic aneurysms, Eur J Vasc Endovasc Surg, 23, 543, 10.1053/ejvs.2002.1620 Lindholt, 2001, Cystatin C deficiency is associated with the progression of small abdominal aortic aneurysms, Br J Surg, 88, 1472, 10.1046/j.0007-1323.2001.01911.x Shi, 1999, Cystatin C deficiency in human atherosclerosis and aortic aneurysms, J Clin Invest, 104, 1191, 10.1172/JCI7709 Nishimura, 2000, Identification of a novel FGF, FGF-21, preferentially expressed in the liver, Biochim Biophys Acta, 1492, 203, 10.1016/S0167-4781(00)00067-1 Spicer, 1997, Chromosomal localizatiuon of the human and mouse hyluronan synthase genes, Genomics, 41, 493, 10.1006/geno.1997.4696