Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

被引：131

作者：

Sanna, Serena ^{[1
]}

Pitzalis, Maristella ^{[2
]}

Zoledziewska, Magdalena ^{[2
]}

Zara, Ilenia ^{[3
]}

Sidore, Carlo ^{[1
,4
]}

Murru, Raffaele ^{[5
]}

Whalen, Michael B. ^{[4
]}

Busonero, Fabio ^{[1
]}

Maschio, Andrea ^{[1
]}

Costa, Gianna ^{[5
]}

Melis, Maria Cristina ^{[5
]}

Deidda, Francesca ^{[2
]}

Poddie, Fausto ^{[2
]}

Morelli, Laura ^{[2
]}

Farina, Gabriele ^{[6
]}

Li, Yun ^{[7
,8
,9
]}

Dei, Mariano ^{[1
]}

Lai, Sandra ^{[1
]}

Mulas, Antonella ^{[1
]}

Cuccuru, Gianmauro ^{[1
]}

Porcu, Eleonora ^{[1
]}

Liang, Liming ^{[7
,10
,11
]}

Zavattari, Patrizia ^{[12
]}

Moi, Loredana ^{[5
]}

Deriu, Elisa ^{[2
]}

Urru, M. Francesca ^{[4
]}

Bajorek, Michele ^{[13
]}

Satta, Maria Anna ^{[14
]}

Cocco, Eleonora ^{[5
]}

Ferrigno, Paola ^{[15
]}

Sotgiu, Stefano ^{[6
]}

Pugliatti, Maura ^{[6
]}

Traccis, Sebastiano ^{[16
]}

Angius, Andrea ^{[4
]}

Melis, Maurizio ^{[15
]}

Rosati, Giulio ^{[6
]}

Abecasis, Goncalo R. ^{[7
]}

Uda, Manuela ^{[1
]}

Marrosu, Maria Giovanna ^{[5
]}

Schlessinger, David ^{[17
]}

Cucca, Francesco ^{[1
,2
]}

机构：

[1] CNR, Ist Neurogenet & Neurofarmacol, Monserrato, Italy

[2] Univ Sassari, Dipartimento Sci Biomed, I-07100 Sassari, Italy

[3] Ctr Adv Studies Res & Dev Sardinia CRS4, Lab Bioinformat, Pula, Italy

[4] CRS4, Lab Genom, Pula, Italy

[5] Univ Cagliari, Dipartimento Sci Neurol & Cardiovasc, Ctr Sclerosi Multipla, Cagliari, Italy

[6] Univ Sassari, Ist Clin Neurol, I-07100 Sassari, Italy

[7] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[8] Univ N Carolina, Dept Genet, Chapel Hill, NC USA

[9] Univ N Carolina, Dept Biostat, Chapel Hill, NC USA

[10] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[11] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA

[12] Univ Cagliari, Dipartimento Sci Biomed & Biotecnol, Cagliari, Italy

[13] Azienda Osped Brotzu, Ctr Trasfusionale, Cagliari, Italy

[14] Azienda Sanit Locale 1, Sassari, Italy

[15] Azienda Osped Brotzu, Div Neurol, Cagliari, Italy

[16] Presidio Osped, Div Neurol, Ozieri, Italy

[17] NIA, Genet Lab, Baltimore, MD 21224 USA

来源：

NATURE GENETICS | 2010年 / 42卷 / 06期

基金：

美国国家卫生研究院;

关键词：

CELL ANERGY INDUCTION; SUSCEPTIBILITY LOCI; NEGATIVE REGULATION; ACTIVATION;

D O I：

10.1038/ng.584

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A genome-wide association scan of similar to 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.

引用

页码：495 / 497

页数：3

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