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Multiple sclerosis

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Multiple sclerosis (MS) is thoiught to be an autoimmune disease in which a person's immune system damages the central nervous system, causing a wide variety of symptoms, including difficulties moving. It is the most common neurologic disease affecting young adults. Wikipedia has an excellent overview.

Most SNPs associated with MS are located in genes playing roles in the immune system. The main allele implicated to date is known as HLA-DRB1*1501, a Class II member of the major histocompatibility complex (MHC). An HLA-DRB1 SNP that is highly correlated with HLA-DRB1*1501, and thus multiple sclerosis, is rs3135388. A recent hypothesis is that a possible way to reduce the frequency of rs3135388(T) carriers developing multiple sclerosis would be to ensure sufficient vitamin D production, presumably through sunlight exposure, during as yet unknown critical periods in development.10.1371/journal.pgen.1000369 Another SNP that tags the HLA-DRB1*1501 allele is rs3135391. [PMID 20593013]

Researchers in the UK and Canada suspect that mutations in the CYP27B1 gene lead to development of multiple sclerosis, suggesting that deficiency of vitamin D is involved. BBC News

A study of ~2,300 patients has also reported that SNPs from other HLA regions, most notably rs4959039, can be shown to increase risk for multiple sclerosis regardless of HLA-DRB1*1501 status. [PMID 20593013]

An algorithm has been developed combining 16 SNPs that appears to "modestly predict" multiple sclerosis risk. [PMID 19879194] A more recent study combining known MS SNPs concludes that prediction of MS "cannot be achieved with the currently available genetic data." [PMID 21280076]

Less pronounced yet still statistically significant increased risk has been reported for the following SNPs [PMID 17660530]:

Additional SNPs (from other studies) include:


[PMID 18285424] rs4728142, rs3807306 and a 5 bp insertion-deletion linked multiple sclerosis in three populations


spittoon Variant Nearest Gene Version Odds Ratio

rs1738074	TAGAP	T	0.88
rs669607	None	C	1.15
rs1077667	TNFSF14	T	0.88
rs17066096	IL22RA2	G	1.14
rs11154801	MYB	A	1.09
rs4902647	ZFP36L1	T	0.88
rs7595037	PLEK	G	0.87
rs2248359	CYP24A1	T	0.90
rs2546890	IL12B	G	0.87
rs9282641	CD86	A	0.83