Abstract
Our previous studies have shown a significant linkage of intracranial aneurysms (IAs) to chromosome 17. Nine genes (TNFRSF13B, M-RIP, COPS3, RAI1, SREBF1, GRAP, MAPK7, MFAP4, and AKAP10) were selected from 108 genes that are located between D17S1857 and D17S1871 by excluding 99 genes that were pseudogenes, hypothetical genes, or well-characterized genes but not likely associated with IA. Direct sequencing of all coding and regulatory regions in 58 cases (29 pedigree probands and 29 unrelated nonpedigree cases) was performed. Deleterious changes were found only in TNFRSF13B, K154X, and c.585 to 586insA in exon4. The association of IA with TNFRSF13B was further studied in 304 unrelated cases and 332 control subjects. Rare nonsynonymous changes, a splicing acceptor site change and a frame shift, were found in unrelated cases (2.3%; 14 of 608) more frequently than in control subjects (0.8%; 5 of 664; P=0.035). The association study using single-nucleotide polymorphisms in an unrelated case-control cohort revealed a protective haplotype (odds ratio 0.69, 95% confidence interval 0.52 to 0.92, P=0.012) compared with the major haplotype after adjustment for covariates. We propose that TNFRSF13B is one of the susceptibility genes for IA.
References
Apr 1, 1997·Neurosurgery·W I Schievink
Oct 20, 1998·American Journal of Epidemiology·S WacholderM Tucker
Nov 5, 1998·Neurosurgery·W E Stehbens
Jan 23, 1999·Genetic Epidemiology·M H GailR Carroll
Jun 5, 1999·Clinical Rheumatology·J Sánchez-OjangurenA Olivé
Oct 18, 2000·Lupus·A MimoriS Minota
Mar 7, 2001·Human Molecular Genetics·S SunyaevP Bork
Mar 10, 2001·Cell·R M LocksleyM J Lenardo
Sep 6, 2001·American Journal of Human Genetics·H OndaI Inoue
Oct 5, 2001·Nature Genetics·G C JohnsonJ A Todd
May 4, 2002·Stroke; a Journal of Cerebral Circulation·Brett M KisselaJoseph Broderick
Aug 3, 2002·BMC Medical Genetics·Jane M OlsonGerard Tromp
Aug 8, 2002·Human Molecular Genetics·David-Alexandre TregouetFrançois Cambien
May 2, 2003·Nature·Yingfang LiuGongyi Zhang
May 17, 2003·Journal of Human Genetics·Taku YoneyamaIturo Inoue
Nov 8, 2003·Human Genetics·James M FarnhamLisa A Cannon-Albright
Dec 6, 2003·Stroke; a Journal of Cerebral Circulation·Shigeki YamadaUNKNOWN Japan Collaborative Cohort Study Group
Dec 19, 2003·American Journal of Human Genetics·Christopher S CarlsonDeborah A Nickerson
Jan 24, 2004·Stroke; a Journal of Cerebral Circulation·Taku YoneyamaIturo Inoue
Aug 7, 2004·Science·Jonathan C CohenHelen H Hobbs
Oct 27, 2004·Clinical Chemistry·Dimitri TchernitchkoHenri Wajcman
Nov 13, 2004·American Journal of Human Genetics·Brian V NahedMurat Gunel
Nov 16, 2004·The Journal of Biological Chemistry·Sarah G HymowitzMelissa A Starovasnik
Dec 1, 2004·Circulation·Shigeki YamadaAkio Koizumi
May 14, 2005·Stroke; a Journal of Cerebral Circulation·Nicole Berthelemy-OkazakiLisa A Cannon-Albright
Jul 12, 2005·Nature Genetics·Emanuela CastigliRaif S Geha
Jul 12, 2005·Nature Genetics·U SalzerB Grimbacher
Apr 1, 2006·Stroke; a Journal of Cerebral Circulation·Youhei MineharuAkio Koizumi
Citations
Feb 9, 2008·Journal of Human Genetics·Yohei MineharuAkio Koizumi
Apr 28, 2007·Journal of Clinical Immunology·Ulrich SalzerBodo Grimbacher
Nov 27, 1991·Biochimica Et Biophysica Acta·M E PapeG W Melchior
Feb 5, 1991·Biochimica Et Biophysica Acta·M MulderL M Havekes
Mar 4, 1992·Biochimica Et Biophysica Acta·D Hermier, J C Dillon
Nov 17, 1994·Biochimica Et Biophysica Acta·S ChangJ Borensztajn
Jun 3, 2011·Journal of Human Genetics·Akio Koizumi
Oct 8, 2011·Leukemia·D M KoflerM Hallek
Feb 20, 2007·Bioinformatics·D A Tregouet, V Garelle
Jun 22, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·Y MineharuA Koizumi
Jan 22, 2011·Journal of Biomedicine & Biotechnology·Tomohiro Aoki, Masaki Nishimura
Nov 26, 2010·Stroke; a Journal of Cerebral Circulation·Yasuhisa KanematsuTomoki Hashimoto
Feb 6, 2010·Nihon eiseigaku zasshi. Japanese journal of hygiene·Akio Koizumi
Jan 17, 2014·Neuroscience Bulletin·Lanbing YuJizong Zhao
Jun 6, 2009·Genes and Immunity·M SazziniD Luiselli
Aug 19, 2011·Genes and Immunity·M JanziL Hammarström
Sep 15, 2009·AJNR. American Journal of Neuroradiology·R KadirvelD F Kallmes
Feb 5, 2010·Expert Opinion on Therapeutic Targets·Tomohiro Aoki, M Nishimura
Aug 15, 2014·Annals of Medicine·Gerard TrompHelena Kuivaniemi
Nov 21, 2012·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Rebecca L MargrafAttila Kumánovics
Dec 11, 2007·Neuroscience Letters·Erik Biros, Jonathan Golledge
May 1, 2007·Current Opinion in Genetics & Development·Alejandro A SchäfferBodo Grimbacher
Feb 27, 2007·Human Immunology·Juhana FrösenIrma Matinlauri
Sep 25, 2008·International Journal of Stroke : Official Journal of the International Stroke Society·Jun Zhang, Richard E Claterbuck
Mar 13, 2015·Neurologia Medico-chirurgica·Hiroharu Kataoka
Feb 9, 2008·Stroke; a Journal of Cerebral Circulation·Ynte M Ruigrok, Gabriel J E Rinkel
Jan 6, 2007·Stroke; a Journal of Cerebral Circulation·Martin Dichgans, Robert A Hegele
Feb 27, 2007·Stroke; a Journal of Cerebral Circulation·Youhei MineharuAkio Koizumi
Apr 17, 2010·Stroke; a Journal of Cerebral Circulation·Hirokuni HashikataAkio Koizumi
Mar 30, 2007·Nature Genetics·Emanuela CastigliRaif Geha
Sep 20, 2007·Physiological Genomics·Shantel WeinsheimerGerard Tromp
May 12, 2020·Yonsei Medical Journal·Liming HuJunxia Yan
Feb 16, 2021·Journal of the American Heart Association·Yoshiki ShinyaMasaharu Kataoka