Alleles; Aortic Aneurysm, Abdominal/genetics; Female; Gene Frequency; Genetic Variation; Humans; Male; Tissue Inhibitor of Metalloproteinase-1/genetics; Tissue Inhibitor of Metalloproteinase-2/genetics
Abstract :
[en] Aneurysms are characterized by dilation, i.e. expansion and thinning of all the arterial wall layers, which is accompanied by remodeling of the connective tissue. Genes involved in the regulation of tissue remodeling are therefore candidate genes. We analyzed TIMP1 and TIMP2 coding sequences in 12 individuals with abdominal aortic aneurysms (AAA), one individual with AAA and intracranial aneurysms (IA), four individuals with IA and two clinically unaffected individuals. We identified two nucleotide variants in both the TIMP1 and the TIMP2 coding sequences. All differences occurred in the third base positions of codons and were neutral polymorphisms. A significant difference was observed in the frequency of TIMP2 nt 573 polymorphism between 168 alleles from AAA patients and 102 control alleles.
Disciplines :
Surgery
Author, co-author :
Wang, Xingjun ; Université de Liège - ULiège > Département d'aérospatiale et mécanique > Computational & Multiscale Mechanics of Materials (CM3)
Tromp, G.
Cole, C. W.
VERLOES, Alain ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
SakalihasanN, Natzi ; Centre Hospitalier Universitaire de Liège - CHU > Chirurgie cardio-vasculaire
Yoon, S.
Kuivaniemi, H.
Language :
English
Title :
Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.
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
Bardien S., Ebenezer N., Greenberg J.et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum. Mol. Genet. 4:1995;1459-1462.
Bramhall S.R., Neoptolemos J.P., Stamp G.W., Lemoine N.R. Imbalance of expression of matrix metalloproteinases (MMPs) and tissue inhibitors of the matrix metalloproteinases (TIMPs) in human pancreatic carcinoma. J. Pathol. 182:1997;347-355.
Docherty A.J.P., Lyons A., Smith B.J., Wright E.M., Stephens P.E., Harris T.J.R. Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity. Nature (London). 7:1985;66-69.
Hammani K., Blakis A., Morsette D.et al. Structure and characterization of the human tissue inhibitor of metalloproteinases-2 gene. J. Biol. Chem. 271:1996;25498-25505.
Kuivaniemi H., Prokop D.J., Wu Y.et al. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections by sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology. 43:1993;2652-2658.
Olson T.M., Hirohata S., Ye J., Leco K., Seldin M.F., Apte S.S. Cloning of the tissue inhibitor of metalloproteinase-4 gene (TIMP4) and localization of the TIMP4 and Timp4 genes to human chromosomes 3p25 and mouse chromosome 6, respectively. Genomics. 51:1998;148-151.
Stetler-Stevenson W.G., Brown P.D., Onisto M., Levy A.T., Liotta L.A. Tissue inhibitor of metalloproteinases-2 (TIMP2) mRNA expression in tumor cell lines and human tumor tissues. J. Biol. Chem. 265:1990;13933-13938.
Tamarina N.A., McMillan W.D., Shively V.P., Pearce W.H. Expression of matrix metalloproteinases and their inhibitors in aneurysms and normal aorta. Surgery. 122:1997;264-271.
Tilson M.D., Reilly J.M., Brophy C.M., Webster E.L., Barnett T.R. Expression and sequence of the gene for tissue inhibitor of metalloproteinases in patients with abdominal aortic aneurysms. J. Vasc. Surg. 18:1993;266-270.
Tromp G., Wu Y., Prockop D.J.et al. 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. 91:1993;2539-2545.
Verloes A., Sakalihasan N., Limet R., Koulischer L. Genetic aspects of abdominal aortic aneurysms. Ann. N.Y. Acad. Sci. 800:1996;44-55.
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.