Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Shibamura, Hidenori; Olson, Jane M; van Vlijmen-Van Keulen, Clarissaet al.
[en] BACKGROUND: Abdominal aortic aneurysm (AAA) is a relatively common disease, with 1% to 2% of the population harboring aneurysms. Genetic risk factors are likely to contribute to the development of AAAs, although no such risk factors have been identified. METHODS AND RESULTS: We performed a whole-genome scan of AAA using affected-relative-pair (ARP) linkage analysis that includes covariates to allow for genetic heterogeneity. We found strong evidence of linkage (logarithm of odds [LOD] score=4.64) to a region near marker D19S433 at 51.88 centimorgans (cM) on chromosome 19 with 36 families (75 ARPs) when including sex and the number of affected first-degree relatives of the proband (N(aff)) as covariates. We then genotyped 83 additional families for the same markers and typed additional markers for all families and obtained a LOD score of 4.75 (P=0.00014) with sex, N(aff), and their interaction as covariates near marker D19S416 (58.69 cM). We also identified a region on chromosome 4 with a LOD score of 3.73 (P=0.0012) near marker D4S1644 using the same covariate model as for chromosome 19. CONCLUSIONS: Our results provide evidence for genetic heterogeneity and the presence of susceptibility loci for AAA on chromosomes 19q13 and 4q31.
Disciplines :
Surgery
Author, co-author :
Shibamura, Hidenori
Olson, Jane M
van Vlijmen-Van Keulen, Clarissa
Buxbaum, Sarah G
Dudek, Doreen M
Tromp, Gerard
Ogata, Toru
Skunca, Magdalena
SakalihasanN, Natzi ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Publication date :
2004
Journal title :
Circulation
ISSN :
0009-7322
eISSN :
1524-4539
Publisher :
Lippincott Williams & Wilkins, Hagerstown, United States - Maryland
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
Bibliography
Kuivaniemi H, Shibamura H. Candidate genes for abdominal aortic aneurysm. In: Liotta D, Del Río M, Cooley DA, et al, eds. Diseases of the Aorta. Buenos Aires, Argentina: Domingo Liotta Foundation Medical; 2003:89-100.
Majumder PP, St Jean PL, Ferrell RE, et al. On the inheritance of abdominal aortic aneurysm. Am J Hum Genet. 1991;48:164-170.
Verloes A, Sakalihasan N, Koulischer L, et al. Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees. J Vasc Surg. 1995;21:646-655.
Ernst CB. Abdominal aortic aneurysm. N Engl J Med. 1993;328:1167-1172.
Goddard KA, Witte JS, Suarez BK, et al. Model-free linkage analysis with covariates confirms linkage of prostate cancer to chromosomes 1 and 4. Am J Hum Genet. 2001;68:1197-1206.
Olson JM. A general conditional-logistic model for affected-relative-pair linkage studies. Am J Hum Genet. 1999;65:1760-1769.
Olson JM. Linkage analysis, model-free. In: Elston RC, Olson JM, Palmer LJ, eds. Biostatistical Genetics and Genetic Epidemiology. West Sussex, UK: John Wiley & Sons Ltd; 2002:460-472.
Weeks DE, Lange K. The affected-pedigree-member method of linkage analysis. Am J Hum Genet. 1988;42:315-326.
Guo X, Elston RC. Two-stage global search designs for linkage analysis II: including discordant relative pairs in the study. Genet Epidemiol. 2000;18:111-127.
Johnston KW, Rutherford RB, Tilson MD, et al, for the Subcommittee on Reporting Standards for Arterial Aneurysms, Ad Hoc Committee on Reporting Standards, Society for Vascular Surgery, and North American Chapter, International Society for Cardiovascular Surgery. Suggested standards for reporting on arterial aneurysms. J Vasc Surg. 1991;13:452-458.
Kuivaniemi H, Shibamura H, Arthur C, et al. Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg. 2003;37:340-345.
Baird PA, Sadovnick AD, Yee IM, et al. Sibling risks of abdominal aortic aneurysm. Lancet. 1995;346:601-604.
Lawrence PF, Wallis C, Dobrin PB, et al. Peripheral aneurysms and arteriomegaly: is there a familial pattern? J Vasc Surg. 1998;28:599-605.
Lederle FA, Johnson GR, Wilson SE. Abdominal aortic aneurysm in women. J Vasc Surg. 2001;34:122-126.
Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11:241-247.
Weber JL, Broman KW. Genotyping for human whole-genome scans: past, present, and future. Adv Genet. 2001;42:77-96.
Olson JM, Vongpunsawad S, Kuivaniemi H, et al. Search for intracranial aneurysm susceptibility gene(s) using Finnish families. BMC Med Genet. 2002;3:7.
Kuivaniemi H, Yoon S, Shibamura H, et al. Primer-extension preamplified DNA is a reliable template for genotyping. Clin Chem. 2002;48:1601-1604.
S.A.G.E. analysis software. Available at: http://darwin.cwru.edu/sage/index.php. Accessed October 8, 2003.
Whittemore AS, Tu IP. Simple, robust linkage tests for affected sibs. Am J Hum Genet. 1998;62:1228-1242.
National Center for Biotechnology Information. Available at: http://www.ncbi.nlm.nih.gov/. Accessed October 8, 2003.
Dizier MH, Quesneville H, Prum B, et al. The triangle test statistic (TTS): a test of genetic homogeneity using departure from the triangle constraints in IBD distribution among affected sib-pairs. Ann Hum Genet. 2000;64:433-442.
Guo D, Hasham S, Kuang SQ, et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001;103:2461-2468.
Vaughan CI, Casey M, He J, et al: Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103:2469-2475.
Hasham SN, Willing MC, Guo DC, et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003;107:3184-3190.
HUGO Gene Nomenclature Committee. Available at: http://www.gene. ucl.ac.uk/nomenclature/. Accessed October 8, 2003.
Boucher P, Gotthardt M, Li WP, et al. LRP: role in vascular wall integrity and protection from atherosclerosis. Science. 2003;300:329-332.
Similar publications
Sorry the service is unavailable at the moment. Please try again later.
This website uses cookies to improve user experience. Read more
Save & Close
Accept all
Decline all
Show detailsHide details
Cookie declaration
About cookies
Strictly necessary
Performance
Strictly necessary cookies allow core website functionality such as user login and account management. The website cannot be used properly without strictly necessary cookies.
This cookie is used by Cookie-Script.com service to remember visitor cookie consent preferences. It is necessary for Cookie-Script.com cookie banner to work properly.
Performance cookies are used to see how visitors use the website, eg. analytics cookies. Those cookies cannot be used to directly identify a certain visitor.
Used to store the attribution information, the referrer initially used to visit the website
Cookies are small text files that are placed on your computer by websites that you visit. Websites use cookies to help users navigate efficiently and perform certain functions. Cookies that are required for the website to operate properly are allowed to be set without your permission. All other cookies need to be approved before they can be set in the browser.
You can change your consent to cookie usage at any time on our Privacy Policy page.