関連論文
-
Iinfluence of plasma cytokine levels on the conversion risk from MCI to dementia in the Alzheimer's disease neuroimaging initiative database
-
Prediction and predictor elucidation of the onset of metabolic syndrome among young workers using machine learning techniques: A nationwide study in Japan
-
Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
-
Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
-
Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
参考文献
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)
15)
16)
Confavreux C, Vukusic S, Moreau T and Adeleine P : Relapses and progression of disability in multiple
sclerosis. N Engl J Med. 343 : 1430-1438, 2000.
Ribbons KA, McElduff P, Boz C, Trojano M, Izquierdo G, Duquette P, Girard M, Grand'Maison F, Hupperts R,
Grammond P, Oreja-Guevara C, Petersen T, Bergamaschi R, Giuliani G, Barnett M, van Pesch V, Amato MP,
Iuliano G, Fiol M, Slee M, Verheul F, Cristiano E, Fernandez-Bolanos R, Saladino ML, Rio ME, Cabrera-Gomez
J, Butzkueven H, van Munster E, Den Braber-Moerland L, La Spitaleri D, Lugaresi A, Shaygannejad V, Gray
O, Deri N, Alroughani R and Lechner-Scott J. Male Sex Is Independently Associated with Faster Disability
Accumulation in Relapse-Onset MS but Not in Primary Progressive MS. PLoS One. 10 : e0122686, 2015.
Harbo HF, Gold R and Tintore M : Sex and gender issues in multiple sclerosis. Ther Adv Neurol Disord. 6 :
237-248, 2013.
Weinshenker BG, Bass B, Rice GP, Noseworthy J, Carriere W, Baskerville J and Ebers GC : The natural
history of multiple sclerosis : a geographically based study. I. Clinical course and disability. Brain : a journal of
neurology. 112 (Pt 1) : 133-146, 1989.
University of California SFMSET, Cree BA, Gourraud PA, Oksenberg JR, Bevan C, Crabtree-Hartman E,
Gelfand JM, Goodin DS, Graves J, Green A, Mowry E, Okuda DT, Pelletier D, von Büdingen HC, Zamvil SS,
Agrawal A, Caillier S, Ciocca C, Gomez R, Kanner R, Lincoln R, Lizee A, Qualley P, Santaniello A, Suleiman L,
Bucci M, Panara V, Papinutto N, Stern WA, Zhu AH, Cutter GR, Baranzini S, Henry RG and Hauser SL :
Long-term evolution of multiple sclerosis disability in the treatment era. Ann Neurol. 80 : 499-510, 2016.
Ramanujam R, Hedstrom AK, Manouchehrinia A, Alfredsson L, Olsson T, Bottai M and Hillert J : Effect of
Smoking Cessation on Multiple Sclerosis Prognosis. JAMA Neurol. 72 : 1117-1123, 2015.
Compston A and Coles A : Multiple sclerosis. Lancet. 359 : 1221-1231, 2002.
Baranzini SE and Oksenberg JR : The Genetics of Multiple Sclerosis : From 0 to 200 in 50 Years. Trends Genet.
33 : 960-970, 2017.
Isobe N and Oksenberg JR : Genetic studies of multiple sclerosis and neuromyelitis optica : Current status in
European, African American and Asian populations. Clin Exp Neuroimmunol. 5 : 61-68, 2014.
Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB,
Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B,
Oksenberg JR and Hauser SL : Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J
Med. 357 : 851-862, 2007.
International Multiple Sclerosis Genetics Consortium : Multiple sclerosis genomic map implicates peripheral
immune cells and microglia in susceptibility. Science. 365 : eaav7188, 2019.
Zuk O, Hechter E, Sunyaev SR and Lander ES : The mystery of missing heritability : Genetic interactions
create phantom heritability. Proc Natl Acad Sci USA. 109 : 1193-1198, 2012.
Smestad C, Brynedal B, Jonasdottir G, Lorentzen AR, Masterman T, Akesson E, Spurkland A, Lie BA,
Palmgren J, Celius EG, Hillert J and Harbo HF : The impact of HLA-A and -DRB1 on age at onset, disease
course and severity in Scandinavian multiple sclerosis patients. Eur J Neurol. 14 : 835-840, 2007.
Okuda DT, Mowry EM, Beheshtian A, Waubant E, Baranzini SE, Goodin DS, Hauser SL and Pelletier D :
Incidental MRI anomalies suggestive of multiple sclerosis : the radiologically isolated syndrome. Neurology.
72 : 800-805, 2009.
Healy BC, Liguori M, Tran D, Chitnis T, Glanz B, Wolfish C, Gauthier S, Buckle G, Houtchens M, Stazzone L,
Khoury S, Hartzmann R, Fernandez-Vina M, Hafler DA, Weiner HL, Guttmann CR and De Jager PL : HLA
B*44 : protective effects in MS susceptibility and MRI outcome measures. Neurology. 75 : 634-640, 2010.
Isobe N, Keshavan A, Gourraud PA, Zhu AH, Datta E, Schlaeger R, Caillier SJ, Santaniello A, Lizée A,
Himmelstein DS, Baranzini SE, Hollenbach J, Cree BA, Hauser SL, Oksenberg JR and Henry RG : Association
of HLA genetic risk burden with disease phenotypes in multiple sclerosis. JAMA Neurol. 73 : 795-802, 2016.
(特に重要な文献については,番号をゴシック体で表記している.)
多発性硬化症における遺伝的要因
175
Genetic Factors Associated with Multiple Sclerosis
Noriko ISOBE
Department of Neurology, Graduate School of Medical Sciences,
Kyushu University, Fukuoka 812-8582, Japan
Abstract
Multiple sclerosis (MS) is an autoimmune demyelinating disease of central nervous system. It mainly
affects women in their twenties to forties. MS is one of complex diseases that both genetic and
environmental factors contribute for the pathogenesis. Recent international collaborative study
revealed more than 200 genetic variants derived from both the major histocompatibility complex
(MHC) region and multiple non-MHC regions as well as various environmental factors. Cumulative
statistics have been often developed to return genetic data to each individual and describe the patterns
how much genetic factors accumulate into a single score. So far the genetic risk accumulation will not
predict the susceptibility for MS precisely but such strategy is to be developed in the near future.
Key words : multiple sclerosis, HLA, SNP, personalized medicine
著者プロフィール
磯部 紀子(いそべ のりこ)
九州大学教授(大学院医学研究院神経内科学).医学博士.
◆略歴 1978 年佐賀県に生まれる.2003 年九州大学医学部医学科卒業.2010 年同大学院早期修了.
2010 年 10 月〜2017 年 3 月米国カリフォルニア大学サンフランシスコ校神経内科学教室研
究留学.2017 年九州大学大学院医学研究院脳神経治療学准教授,2020 年同大学院医学研究
院神経内科学特任准教授.2021 年 3 月より現職.
◆研究テーマと抱負 多発性硬化症を中心とする中枢神経系自己免疫性疾患における発症や表現型
に寄与する遺伝的・環境要因の解明に従事.患者の背景因子やバイオマーカーによる個別
化医療の実現を目指す.
◆趣味 旅行
...