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Variants in the kinesin light-chain 1 KLC1 gene has potentially been implicated in a wide variety of conditions, including Alzheimer's disease, multiple sclerosis, cataracts, and leukoaraiosis.
- A study of 100 patients with Alzheimer's disease found an association with the C allele of the KCL1 intron 13 SNP, G56836, with odds ratio = 1.73, CI: 1.12-2.67, p = 0.012. No synergistic effects were found between the ApoE4 allele and KCL1 gene polymorphisms.[PMID 15364413]
SNPs observed in connection to leukoaraiosis (LA) include:
- A SNP known as the G56836C variant, located in intron 13. An association analysis performed in 229 patients with LA found that the 56836(C;C) variant increased the risk of LA 7.76-fold in hypertensive smokers as compared with those not carrying this variant.[PMID 17917076, PMID 17977659]