|(C;C)||conflicting reports; possible slight increased risk for multiple sclerosis|
|(C;T)||conflicting reports; possible slight increased risk for multiple sclerosis|
A genome-wide association study of 2,679 patients with multiple sclerosis (and 3,000+ controls) concluded that the rs10492972(C) allele is a risk allele for the disease, with an odds ratio of 1.35 (p = 2.5 x 10e-10). This is one of the few SNPs associated with multiple sclerosis that is not related to immune function. [PMID 18997785]
A 2011 report combining eight data sets of cases and controls and three independent data sets of the International Multiple Sclerosis Genetic Consortium excluded the rs10492972(C) allele as a major "risk" allele for MS with a high degree of confidence (p = 1.18 × 10e-4), i.e. they say it's not a risk allele.[PMID 21594895]
[PMID 20067515] Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort
[PMID 21680216] Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: Case control study
[PMID 19361613] Genetic control of human brain transcript expression in Alzheimer disease.
[PMID 19525953] Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
[PMID 20502484] Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
[PMID 21304891] A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
[PMID 21424745] The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis.
|qualified_impact||Insufficiently evaluated pathogenic|