CASP-9: A susceptibility locus for multiple sclerosis in Italy

• Published in: Journal of neuroimmunology Vol. 210; no. 1; pp. 100 - 103
• Main Authors: Andreoli, V, Trecroci, F, La Russa, A, Valentino, P, Condino, F, Latorre, V, Nisticò, R, Pirritano, D, Del Giudice, F, Canino, M, Cittadella, R, Quattrone, A
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 29.05.2009
• Subjects: Adult; Allergy and Immunology; Apoptosis - genetics; Association study; CASP-9; Caspase 9 - genetics; DNA Mutational Analysis; Female; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genetic susceptibility; Genetic Testing; Genotype; Humans; Italy - epidemiology; Male; Middle Aged; Multiple sclerosis; Multiple Sclerosis - enzymology; Multiple Sclerosis - epidemiology; Multiple Sclerosis - genetics; Neurology; Polymorphism; Polymorphism, Genetic - genetics; Polymorphism, Single Nucleotide - genetics; Italy; CASP-9; Association study; Multiple sclerosis; Genetic susceptibility; Polymorphism
• ISSN: 0165-5728; 1872-8421
• DOI: 10.1016/j.jneuroim.2009.03.013

Abstract Caspase-9 is a primary effector CASP that executes programmed cell death, which plays an important role in the development of multiple sclerosis (MS). Polymorphisms in the CASP-9 gene may influence its activity, thereby modulating the susceptibility to MS. To test this hypothesis, we evaluated a SNP in the CASP-9 gene in a set of Italian patients from Southern Italy and healthy control subjects. Our results suggest that the presence of the G/G genotype represents a higher risk factor in our MS population and a differential production of CASP-9 might be a contributory factor in determining the severity of MS.