Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS

被引:81
作者
Goodall, EF [1 ]
Greenway, MJ
van Marion, I
Carroll, CB
Hardiman, O
Morrison, KE
机构
[1] Univ Birmingham, Sch Med, Biomed Res Inst, Dept Clin Neurosci, Birmingham B15 2TT, W Midlands, England
[2] Royal Coll Surgeons Ireland, Dept Clin Neurol Sci, Dublin 2, Ireland
[3] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland
基金
英国医学研究理事会;
关键词
D O I
10.1212/01.wnl.0000176032.94434.d4
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls (totaling 379 patients and 400 controls). They found that the H63D polymorphism is overrepresented in individuals with sporadic ALS (odds ratio 1.85, CI: 1.35 to 2.54).
引用
收藏
页码:934 / 937
页数:4
相关论文
共 10 条
[1]   Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression [J].
Chambers, V ;
Sutherland, L ;
Palmer, K ;
Dalton, A ;
Rigby, AS ;
Sokol, R ;
Pollitt, R ;
Tanner, S ;
Gleeson, D .
JOURNAL OF HEPATOLOGY, 2003, 39 (06) :925-931
[2]   A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [J].
Feder, JN ;
Gnirke, A ;
Thomas, W ;
Tsuchihashi, Z ;
Ruddy, DA ;
Basava, A ;
Dormishian, F ;
Domingo, R ;
Ellis, MC ;
Fullan, A ;
Hinton, LM ;
Jones, NL ;
Kimmel, BE ;
Kronmal, GS ;
Lauer, P ;
Lee, VK ;
Loeb, DB ;
Mapa, FA ;
McClelland, E ;
Meyer, NC ;
Mintier, GA ;
Moeller, N ;
Moore, T ;
Morikang, E ;
Prass, CE ;
Quintana, L ;
Starnes, SM ;
Schatzman, RC ;
Brunke, KJ ;
Drayna, DT ;
Risch, NJ ;
Bacon, BR ;
Wolff, RK .
NATURE GENETICS, 1996, 13 (04) :399-408
[3]   Mechanisms of iron accumulation in hereditary hemochromatosis [J].
Fleming, RE ;
Sly, WS .
ANNUAL REVIEW OF PHYSIOLOGY, 2002, 64 :663-680
[4]   IRON, SELENIUM AND GLUTATHIONE-PEROXIDASE ACTIVITY ARE ELEVATED IN SPORADIC MOTOR-NEURON DISEASE [J].
INCE, PG ;
SHAW, PJ ;
CANDY, JM ;
MANTLE, D ;
TANDON, L ;
EHMANN, WD ;
MARKESBERY, WR .
NEUROSCIENCE LETTERS, 1994, 182 (01) :87-90
[5]  
Moos T, 2002, DAN MED BULL, V49, P279
[6]  
Ryan F, 2000, BRIT J BIOMED SCI, V57, P315
[7]  
SLOTT MK, 1999, CLIN CHEM, V45, P426
[8]   Iron and neurodegenerative disorders [J].
Thompson, KJ ;
Shoham, S ;
Connor, JR .
BRAIN RESEARCH BULLETIN, 2001, 55 (02) :155-164
[9]   Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences [J].
Wang, XS ;
Lee, S ;
Simmons, Z ;
Boyer, P ;
Scott, K ;
Liu, WL ;
Connor, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2004, 227 (01) :27-33
[10]   HFE mutations are not strongly associated with sporadic ALS [J].
Yen, AA ;
Simpson, EP ;
Henkel, JS ;
Beers, DR ;
Appel, SH .
NEUROLOGY, 2004, 62 (09) :1611-1612