A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians.

Environmental Health and Preventive Medicine
Wanyang LiuAkio Koizumi

Abstract

In an earlier study, we identified a locus for Moyamoya disease (MMD) on 17q25.3. Linkage analysis and fine mapping were conducted for two new families in additional to the previously studied 15 families. Three genes, CARD14, Raptor, and AATK, were selected based on key words, namely, "inflammation", "apoptosis", "proliferation", and "vascular system", for further sequencing. A segregation analysis of 34 pedigrees was performed, followed by a case-control study in Japanese (90 cases vs. 384 controls), Korean (41 cases vs. 223 controls), Chinese (23 cases and 100 controls), and Caucasian (25 cases and 164 controls) populations. Linkage analysis increased the LOD score from 8.07 to 9.67 on 17q25.3. Fine mapping narrowed the linkage signal to a 2.1-Mb region. Sequencing revealed that only one newly identified polymorphism, ss161110142, which was located at position -1480 from the transcription site of the Raptor gene, was common to all four unrelated sequenced familial affected individuals. ss161110142 was then shown to segregate in the 34 pedigrees studied, resulting in a two-point LOD score of 14.2 (P = 3.89 × 10(-8)). Its penetrance was estimated to be 74.0%. Among the Asian populations tested (Japanese, Korean, and Chinese), t...Continue Reading

References

Nov 1, 1992·Neurologia Medico-chirurgica·Y Goto, Y Yonekawa
Jul 1, 1984·Stroke; a Journal of Cerebral Circulation·S TakebayashiM Kaneko
Mar 1, 1995·Stroke; a Journal of Cerebral Circulation·M AoyagiK Yamamoto
Dec 31, 1997·Clinical Neurology and Neurosurgery·T YamauchiH Abe
Oct 19, 2000·Neuropathology : Official Journal of the Japanese Society of Neuropathology·M FukuiK Ikezaki
Dec 4, 2001·Nature Genetics·Gonçalo R AbecasisLon R Cardon
Mar 17, 2006·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Ken IkedaHidetoshi Ikeda
Jun 22, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·Y MineharuA Koizumi
Sep 14, 2006·Annual Review of Pharmacology and Toxicology·Chung-Han LeeKun-Liang Guan
May 16, 2007·The Journal of Biological Chemistry·Stephen C Land, Andrew R Tee
Dec 1, 2007·Stroke; a Journal of Cerebral Circulation·Shinichi KuriyamaTakashi Yoshimoto
Feb 6, 2008·The Journal of Immunology : Official Journal of the American Association of Immunologists·Peter T JindraElaine F Reed
May 9, 2008·Neurology·Y MineharuA Koizumi
May 30, 2008·Nature Genetics·Walter Bodmer, Carolina Bonilla
Sep 13, 2008·Stroke; a Journal of Cerebral Circulation·Markus KraemerPeter Berlit
Oct 23, 2008·Lancet Neurology·Satoshi Kuroda, Kiyohiro Houkin
Mar 20, 2009·The New England Journal of Medicine·R Michael Scott, Edward R Smith

❮ Previous
Next ❯

Citations

Aug 11, 2012·Environmental Health and Preventive Medicine·Akio KoizumiShinichiro Shimbo
Oct 17, 2015·British Journal of Neurosurgery·Pennylouise HeverChristos Tolias
Feb 6, 2016·Journal of Stroke·Oh Young BangSeung-Ki Kim
Jun 13, 2012·Neurologia Medico-chirurgica·Kiyohiro HoukinSatoshi Kuroda
Dec 15, 2015·Environmental Health and Preventive Medicine·Akio KoizumiShohab Youssefian
Feb 11, 2015·Health Economics, Policy, and Law·Alex VoorhoeveOle F Norheim
Jul 1, 2015·PloS One·Oh Young BangSeung Chyul Hong
Apr 18, 2014·Journal of Stroke·Oh Young Bang
Aug 6, 2014·PloS One·Dongwei DaiQiang Li
Jul 28, 2016·International Journal of Stroke : Official Journal of the International Stroke Society·Oh Young BangGyeong Joon Moon
Nov 5, 2010·Journal of Human Genetics·Fumiaki KamadaShigeo Kure
Dec 24, 2017·Stroke; a Journal of Cerebral Circulation·Lian DuanKai Wang
Jun 24, 2010·Acta neurochirurgica·Constantin RoderBoris Krischek
Aug 27, 2010·Journal of Human Genetics·Constantin RoderBoris Krischek
Jul 17, 2015·Journal of Korean Neurosurgical Society·Young Seok Park
Feb 3, 2016·Journal of Clinical Neurology·Oh Young Bang
Mar 30, 2021·The Application of Clinical Genetics·Kirsten B Dorschel, John E Wanebo
May 21, 2021·Annals of Human Genetics·Kae KoganebuchiHiroki Oota
Sep 17, 2021·Translational Stroke Research·R MertensP Vajkoczy

❮ Previous
Next ❯

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis