Details

Autor(en) / Beteiligte

• Gregory, Simon G
• Schmidt, Silke
• Seth, Puneet
• Oksenberg, Jorge R
• Hart, John
• Prokop, Angela
• Caillier, Stacy J
• Ban, Maria
• Goris, An
• Barcellos, Lisa F
• Lincoln, Robin
• McCauley, Jacob L
• Sawcer, Stephen J
• Compston, D.A.S
• Dubois, Benedicte
• Hauser, Stephen L
• Garcia-Blanco, Mariano A
• Pericak-Vance, Margaret A
• Haines, Jonathan L

Titel

Interleukin 7 receptor [alpha] chain shows allelic and functional association with multiple sclerosis

Ist Teil von

• Nature genetics, 2007-09, Vol.39 (9), p.1083-1091

Ort / Verlag

New York: Nature Publishing Group

Erscheinungsjahr

2007

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component. Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. We describe allelic association of a polymorphism in the gene encoding the interleukin 7 receptor alpha chain (IL7R) as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets (overall P = 2.9 x 10(-7)). Further, the likely causal SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, has a functional effect on gene expression. The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer.