Gene variants linked to MS
Posted: Mon Oct 15, 2007 6:30 am
Three gene variants have been found to correlate with susceptibility to multiple sclerosis, according to findings of the International Multiple Sclerosis Genetics Consortium (IMSGC) presented here at the 132nd Annual Meeting of the American Neurological Association (ANA).
Variants of interleukin 2RA, interleukin 7RA and CD58 were found to correlate with multiple sclerosis in a whole genome analysis that included about 4,500 participants. "The same finding has been reported in two other papers as well," noted Philip De Jager, MD, PhD, Assistant Professor, Neurology, Harvard Medical School, Boston, Massachusetts, United States, representing the IMSGC. "How these variants exert their effects is not known, and [will] become the subject of numerous investigations."
Dr. De Jager said that recent advances in genotyping technology and in our understanding of the structure of the human genome have enabled the execution of whole-genome-association scans for the first time. The IMSGC assayed approximately 70% of common genetic variation for their role in multiple sclerosis susceptibility.
First-degree relatives of patients with multiple sclerosis were screened to identify those at high risk. "These individuals could then be followed by a neurologist and undergo appropriate imaging. If genetic variants were identified, their pathways could be targeted using existing or future medications," Dr. De Jager speculated.
The screening sample consisted of 931 affected families, each containing a subject with multiple sclerosis and her biological parents. Half of participants in the study were from the United States, half from the United Kingdom.
Multiple sclerosis is twice as prevalent among populations of northern European descent than among other groups, with Scandinavia, Scotland and Ireland seeing the highest rates of the disease. Also, Sardinia has a higher rate of multiple sclerosis than other parts of Italy, said Dr. De Jager.
"Duplication of these same results in 10,000 subjects will be definitive," concluded Dr. De Jager. "The samples exist and the analysis should be completed in 2008."
Source: Presentation title: Whole Genome Association Screen in Multiple Sclerosis. Abstract 621 (15/10/07)
Variants of interleukin 2RA, interleukin 7RA and CD58 were found to correlate with multiple sclerosis in a whole genome analysis that included about 4,500 participants. "The same finding has been reported in two other papers as well," noted Philip De Jager, MD, PhD, Assistant Professor, Neurology, Harvard Medical School, Boston, Massachusetts, United States, representing the IMSGC. "How these variants exert their effects is not known, and [will] become the subject of numerous investigations."
Dr. De Jager said that recent advances in genotyping technology and in our understanding of the structure of the human genome have enabled the execution of whole-genome-association scans for the first time. The IMSGC assayed approximately 70% of common genetic variation for their role in multiple sclerosis susceptibility.
First-degree relatives of patients with multiple sclerosis were screened to identify those at high risk. "These individuals could then be followed by a neurologist and undergo appropriate imaging. If genetic variants were identified, their pathways could be targeted using existing or future medications," Dr. De Jager speculated.
The screening sample consisted of 931 affected families, each containing a subject with multiple sclerosis and her biological parents. Half of participants in the study were from the United States, half from the United Kingdom.
Multiple sclerosis is twice as prevalent among populations of northern European descent than among other groups, with Scandinavia, Scotland and Ireland seeing the highest rates of the disease. Also, Sardinia has a higher rate of multiple sclerosis than other parts of Italy, said Dr. De Jager.
"Duplication of these same results in 10,000 subjects will be definitive," concluded Dr. De Jager. "The samples exist and the analysis should be completed in 2008."
Source: Presentation title: Whole Genome Association Screen in Multiple Sclerosis. Abstract 621 (15/10/07)