Multiple sclerosis (MS) is a nervous system disease that affects the brain and spinal cord. It damages the material that surrounds and protects nerve cells. This damage slows down or blocks messages from the brain, leading to the symptoms of MS. They can include: Visual disturbances, Muscle weakness, Trouble with coordination and balance, Sensations such as numbness, prickling, Thinking and memory problems.
To date, the HLA haplotypes within the major histocompatibility complex on chromosome 6p, have been the strongest genetic risk factor associated with MS susceptibility. Recent independent studies support an allelic association of MS with polymorphisms in the ST8SIA1 gene. The initial association was made in a single three-generation family where a single-nucleotide polymorphism (SNP) rs4762896, was segregating together with HLA DR15/DQ6 in MS patients. A study of 274 family trios ( affected child and both unaffected parents) from Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793
Related to:
MS, ST8SIA1