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Possible Other Genes Linked to Multiple Sclerosis:
Candidate Gene
(Updated May 2002) |
Chromosomal Location |
Study Design |
Representative References |
| Glutathione S-transferase mu |
1p13.3 |
case-control |
Mann, 2000 |
| Interleukin-12 receptor beta 2 |
1p31 |
family-based |
Reboul, 2000 |
| T cell specific adapter protein (TDAd) |
1q21 |
case-control |
Dai, 2001 |
| Fas Ligand |
1q23 |
case-control |
Zayas, 2001 |
| Interleukin 10 |
1q31-q32 |
family-based |
He, 1997; Reboul, 2000 |
| Interleukin 10 |
1q31-q32 |
case-control |
He, 1997; Pickard, 1999; Maurer, 2000 |
| Protein tyrosine phosphatase receptor type C (CD45) |
1q31-32 |
family-based |
Barcellos, 2001 |
| Protein tyrosine phosphatase receptor type C (CD45) |
1q31-32 |
case-control |
Jacobsen, 2001 |
| Transforming growth factor (TGF) B2 |
1q31 |
family-based |
He, 1997; Mertens, 1998 |
| Transforming growth factor (TGF) B2 |
1q31 |
case-control |
He, 1997; McDonnell, 1999 |
| HRES-1 retro-element |
1q32-q42 |
case-control |
Rasmussen, 1997; Rasmussen, 2000 |
| Transforming growth factor BR3 |
1p32-p33 |
family-based |
Mertens, 1998 |
| Rhesus blood group |
1p36.2-p34 |
case-control |
Roberts, 1979 |
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 |
 |
 |
| Apolipoprotein (APO) B |
2p23-24 |
family-based |
Chataway, 1999a |
| Interleukin 1 receptor antagonist/ interleukin-1B (IL-1ra/IL-1b) |
2q14.2 |
family-based |
Wansen, 1997; Semana, 1997; Schrijver, 1999; Feakes, 2000 |
| Interleukin 1 receptor antagonist/ interleukin-1B (IL-1ra/IL-1b) |
2q14.2 |
case-control |
Crusius, 1995; Wansen, 1997; Semana, 1997; de la Concha, 1997; McDonnell, 2000 |
| Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) |
2q33 |
case-control |
Harbo, 1999; Ligers, 1999; Fukazawa, 2000 Rasmussen, 2001; Dyment, 2002 |
| Erb-B4 |
2q34 |
family-based |
Mertens, 1998 |
| Natural resistance-associated macrophage protein-1 (NRAMP1) |
2q35 |
case-control |
Kotze, 2001 |
 |
 |
 |
 |
| Chemokine receptor 5 (CCR5) |
3p21 |
case-control |
Bennetts, 1997 |
| Transforming growth factor BR2 |
3p22 |
family-based |
Mertens, 1998 |
| B7-1 |
3q13.3-q21 |
Case-control |
Weinshenker, 2000 |
| Interleukin 12p35 |
3q25-q26.2 |
family-based |
Reboul, 2000 |
 |
 |
 |
 |
| Fibroblast growth factor Re |
4p16.3 |
family-based |
Mertens, 1998 |
| Platelet derived growth factor Ra |
4q11-q12 |
family-based |
Mertens, 1998 |
| Vitamin D binding protein |
4q12 |
family-based |
Reboul, 2000 |
| Fibroblast growth factor 2 |
4q25-q27 |
family-based |
Mertens, 1998 |
| Interleukin 2 |
4q26-q27 |
family-based |
He, 1997; Reboul, 2000; Feakes, 2000 |
| Interleukin 2 |
4q26-q27 |
case-control |
He, 1997; McDonnell, 2000 |
 |
 |
 |
 |
| Microtubule associated protein 1B |
5q13 |
family-based |
Chataway, 1999 |
| Interleukin 4 |
5q23-31 |
family-based |
He, 1997; Reboul, 2000 |
| Interleukin 4 |
5q23-31 |
case-control |
Vandenbroeck, 1997; He, 1997; McDonnell, 2000 |
| Interleukin 9 |
5q23-31 |
case-control |
McDonnell, 2000 |
| Fibroblast growth factor 1 |
5q31.3-q33.2 |
family-based |
Mertens, 1998 |
| Interferon regulatory factor 1 (IRF1) |
5q31 |
family-based |
Vandenbroeck, 2000 |
| Interleukin 12p40 |
5q33 |
family-based |
Reboul, 2000 |
 |
 |
 |
 |
| Pc 1 Duarte |
6p21 |
case-control |
Comings, 1979 |
| HLA-DR |
6p21.3 |
family-based |
Haines, 1998 |
| HLA-DR |
6p21.3 |
case-control |
Seboun, 1996 (review) |
| HLA-DQ |
6p21.3 |
case-control |
Seboun, 1996 (review) |
| HLA-DP |
6p21.3 |
case-control |
Fugger, 1990 |
| HLA-DM |
6p21.3 |
case-control |
Ristori, 1997 |
| HLA-DRA promoter |
6p21.3 |
Case-control |
Bennetts, 1999 |
| Complement C4/CYP21 |
6p21.3 |
case-control |
Franciotta, 1995 |
| Tumor necrosis factor alpha |
6p21.3 |
case-control |
Garcia-Merino, 1996; Huizinga, 1997; Fernandez-Arquero, 1999 |
| Transporters associated with antigen processing |
6p21.3 |
case-control |
Liblau, 1993; Spurkland, 1994; Bell, 1995 |
| Myelin oligodendrocyte glycoprotein (MOG) |
6p21.3 |
case-control |
Hilton, 1995; Roth, 1995; Rodriguez, 1997 |
| Myelin oligodendrocyte glycoprotein (MOG) |
6p21.3 |
family-based |
Seboun, 1999 |
| Heat shock protein 70 |
6p21.3 |
case-control |
Ramachandran, 1995; Cascino, 1994 |
| Interferon gamma receptor 1 |
6q23-q24 |
family-based |
Reboul, 2000 |
| Estrogen receptor a |
6q25.1 |
case-control |
Niino, 2000 |
 |
 |
 |
 |
| Erb-B |
7p12 |
family-based |
Mertens, 1998 |
| Interleukin 6 |
7p15-p21 |
case-control |
Schmidt, 2000 |
| Platelet derived growth factor a |
7p22 |
family-based |
Mertens, 1998 |
| Plasminogen activator inhibitor 1 |
7q22-31 |
Case-control |
Luomala, 2000 |
| T cell antigen receptor (TCR) B |
7q35 |
family-based |
Seboun, 1989; Lynch, 1991; Wansen, 1997; Hockertz, 1998 |
| T cell antigen receptor (TCR) B |
7q35 |
case-control |
Beall, 1989; Fugger, 1990; Epplen, 1997; Wansen, 1997; Buhler, 2000 |
| ERV3 retro-element |
7 |
case-control |
Rasmussen, 1996 |
 |
 |
 |
 |
| Fibroblast growth factor R1 |
8p12 |
family-based |
Mertens, 1998 |
| Glial growth factor |
8p21 |
family-based |
Mertens, 1998 |
 |
 |
 |
 |
| Interferons alpha/beta |
9p21 |
family-based |
Bergkvist, 1996 |
| Interferons alpha/beta |
9p21 |
case-control |
Miterski, 1999 |
| Transforming growth factor BR1 |
9q33-q34 |
family-based |
Mertens, 1998 |
 |
 |
 |
 |
| Interleukin-2R alpha |
10p15 |
family-based |
Reboul, 2000 |
| Fas Apo-1 antigen |
10q24.1 |
case-control |
Cascino, 1998; Huang, 2000 |
| Fibroblast growth factor BR2 |
10q25.3-q26 |
family-based |
Mertens, 1998 |
 |
 |
 |
 |
| Ciliary neurotrophic factor (CNTF) |
11q22.2 |
case-control |
Giess, 2002; Hoffmann, 2002 |
| Interleukin-10 receptor |
11q23.3 |
family-based |
Reboul, 2000 |
| Glutathione S-transferase pi |
11 |
case-control |
Mann, 2000 |
| Interleukin 12p40 (IL12b) |
11 |
case-control |
Van Veen, 2001 |
 |
 |
 |
 |
| Neurotrophin-3 |
12p13 |
family-based |
Mertens, 1998 |
| Alpha-2-macroglobulin (A2M) |
12p13.3 |
case-control |
Schweer, 2001 |
| Erb-B3 |
12p |
family-based |
Mertens, 1998 |
| Vitamin D receptor |
12q13-q14 |
family-based |
Steckley, 2000 |
| Vitamin D receptor |
12q13-q14 |
case control |
Fukazawa, 1999 |
| Low-density lipoprotein receptor (LRP) |
12q13-q14 |
case-control |
Schweer, 2001 |
| 25(OH)D3 1 alpha-hydroxilase |
12q13 |
family-based |
Steckley, 2000 |
| Interferon gamma |
12q14-15 |
family-based |
Wansen, 1997; He, 1997; Dai, 2001 |
| Interferon gamma |
12q14-15 |
case-control |
Wansen, 1997; He, 1997; Goris, 1999 |
| Spinocerebellar ataxia 2 (SAC2) |
12q21-23 |
case-control |
Miterski, 2000 |
| Insulin-like growth factor 1 |
12q23 |
family-based |
Mertens, 1998 |
| Nitric oxide synthase (NOS1) |
12q24.2-24.31 |
family-based |
Xu, 1999 |
 |
 |
 |
 |
| T cell antigen receptor (TCR) A/D |
14q11.2 |
family-based |
Lynch, 1992 |
| T cell antigen receptor (TCR) A/D |
14q11.2 |
case-control |
Oksenberg, 1989; Hashimoto, 1992 |
| Transforming growth factor B3 |
14q24 |
family-based |
Mertens, 1998 |
| Immunoglobulin G heavy chain |
14q32 |
family-based |
Wansen, 1997; Wood, 1995 |
| Immunoglobulin G heavy chain |
14q32 |
case-control |
Wansen, 1997 |
| Immunoglobulin constant region |
14q32 |
case-control |
Gaiser, 1987 |
| Immunoglobulin variable region |
14q32 |
family-based |
Hashimoto, 1993; Ligers, 1997; Feakes, 2000 |
| Immunoglobulin variable region |
14q32 |
case-control |
Walter, 1991 |
| Alpha-1 antitrypsin |
14q24 |
case-control |
McCombe, 1985 |
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 |
 |
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| Insulin-like growth factor 1R |
15q25-qter |
family-based |
Mertens, 1998 |
| TRK-C |
15q24-q25 |
family-based |
Mertens, 1998 |
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 |
 |
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| Interleukin 4 receptor |
16p12.1-p11.2 |
family-based |
He, 1997; Reboul, 2000 |
| Interleukin 4 receptor |
16p12.1-p11.2 |
case-control |
He, 1997; Hackstein, 2001 |
| MHC Class II transactivator |
16p13 |
case-control |
Rasmussen, 2001 |
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 |
 |
 |
| 2'3'-cyclic nucleotide 3'-phosphodiesterase |
17q21 |
family-based |
Thompson, 1996; He, 1997, Chataway, 1999a |
| 2'3'-cyclic nucleotide 3'-phosphodiesterase |
17q21 |
case-control |
Thompson, 1996; He, 1997 |
| Myeloperoxidase |
17q23.1 |
case-control |
Nagra, 1997; Nelissen, 2000 (b) |
| Myeloperoxidase |
17q21.3-23.1 |
family-based |
Chataway, 1999 (a); Nelissen, 2000 (b) |
| RIalpha of cAMP-dependent protein kinase (PRKAR1A) |
17q21-q24 |
case-control |
Nelissen, 2000 (b) |
| RIalpha of cAMP-dependent protein kinase (PRKAR1A) |
17q21-q24 |
family-based |
Nelissen, 2000 (b) |
| phenylethanolamine N-methyltransferase |
17q21-q22 |
case-control |
Mann, 2002 |
| Apoplipoprotein (APO) H |
17q22 |
family-based |
Chataway, 1999 (a); Nelissen, 2000 (b) |
| Platelet/endothelial cell adhesion molecule (PECAM-1) |
17q23 |
case-control |
Sciacca, 2000; Nelissen, 2000 (b) |
| Monocyte chemotactic protein (MCP)-3 |
17q11.2 |
case-control |
Fiten, 1999 |
| Oligodendrocyte myelin glycoprotein (OMGP) |
17q11.2 |
family-based |
He, 1997; Seboun, 1999 |
| Oligodendrocyte myelin glycoprotein (OMGP) |
17q11.2 |
case-control |
Hinks, 1995; He, 1997 |
| Erb-B2 |
17q11.2 |
family-based |
Mertens, 1998 |
| Ecotropic viral integration |
17q11 |
case-control |
Hinks, 1995 |
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 |
 |
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| Myelin basic protein (MBP) |
18q22-qter |
case-control |
Boylan, 1991; Tienari, 1992; Ibsen, 1996 |
| Myelin basic protein (MBP) |
18q22-qter |
family-based |
Tienari, 1998; Choppin, 2001 |
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 |
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| Third component of complement (C3) |
19p13-tel |
case-control |
Bernal, 1986; Bulman, 1991 |
| Intracellular adhesion molecule 1 (ICAM-1) |
19p13.3-p13.2 |
case-control |
Mycko, 1998; Luomala, 1999 |
| Notch3 |
19p13.2-p13.1 |
Family-based |
Broadley, 2001 |
| Apolipoprotein (APO) E |
19q13 |
case-control |
Rubinsztein, 1994; Gaillard, 1998; Evangelou, 1999; Olivery, 1999; Chapman, 2000; Weatherby, 2000; Chapman, 2001; Fazekas, 2001 |
| Apolipoprotein (APO) E |
19q13 |
family-based |
Schmidt, 2002 |
| Myelin associated glycoprotein (MAG) |
19q13.1 |
family-based |
He, 1997; Seboun, 1999; Chataway, 1999a |
| Myelin associated glycoprotein (MAG) |
19q13.1 |
case-control |
He, 1997 |
| Interleukin-12 receptor beta 1 |
19q13 |
family-based |
Reboul, 2000 |
| Transforming growth factor (TGF)B1 |
19q13 |
case-control |
He, 1997; McDonnell, 1999; Weinshenker, 2001 |
| Transforming growth factor (TGF)B1 |
19q13.2 |
family-based |
He, 1997; Mertens, 1998 |
| Apolipoprotein (APO) C-II |
19q13.2 |
case-control |
Zouali, 1999 |
| Apolipoprotein (APO) C-II |
19q13.2 |
family-based |
Chataway, 1999a |
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 |
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| Gelatinase B |
20q11.2-q13.1 |
family based |
Nelissen, 2000 |
| Gelatinase B |
20q11.2-q13.1 |
case-control |
Nelissen, 2000 |
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 |
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| Interferon gamma receptor 2 |
21q22.1 |
family-based |
Reboul, 2000 |
 |
 |
 |
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| Tissue inhibitor of metalloproteinase 3 (TIMP3) |
22q12 |
family-based |
Chataway, 1999a |
| Neurofibromatosis 2 (NF2) |
22q12 |
family-based |
Chataway, 1999 |
| Platelet-derived growth factor B |
22q12.3-q13.1 |
family-based |
Mertens, 1998 |
| CYP2D6 |
22q13 |
case-control |
Agundez, 1995 |
| Interleukin-2 receptor beta |
22q13 |
case-control |
McDonnell, 2000 |
| Glutathione S-transferase theta |
22 |
case-control |
Mann, 2000 |
 |
 |
 |
 |
| Interleukin-2R gamma |
Xq13.1 |
family-based |
Reboul, 2000 |
| Gamma-aminobutyric acid A3 R |
Xq22-q28 |
case-control |
Gade-Andavolu, 1998 |
| Proteolipid protein (PLP) |
Xq22 |
family-based |
He, 1997; Seboun, 1999 |
| Proteolipid protein (PLP) |
Xq22 |
case-control |
Price, 1997 He, 1997 |
| CD40 ligand |
Xq26 |
case-control |
Dai, 2002 |
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 |
 |
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| Spino-cerebellar ataxias-related CAG repeats |
3p, 6p, 11, 12q, 14q, 19p |
family-based |
Chataway, 1999 (b) |
| Mitochondrial sequences |
 |
case-control |
Kellar-Wood, 1994; Kalman, 1996; Kalman, 1998 |
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(http://www.ucsf.edu/msdb/r_ms_candidate_genes.html) |