XXXX gene haplotypes in three conformational diseases.

@entity71496 @entity231 @entity191 @entity195 @entity71495 @entity6960 @entity61809 @entity71497
A functional intracellular transport system is essential to maintain cell shape and function especially in elongated cells, e.g. neurons and lens fibre cells. Impaired intracellular transport has been suggested as a common pathological mechanism for age-related diseases characterised by @entity6960 . Here, we hypothesise that common genetic variation in the transport protein kinesin may influence the risk of @entity191 ( @entity191 ), @entity195 ( @entity195 ) and age-related @entity231 . This case-control study involves a @entity191 material (165 cases and 190 controls), an @entity195 material (653 cases and 845 controls) and a @entity231 material (495 cases and 183 controls). Genetic variation in the @entity61809 ( @entity61809 ) was tagged by six tag single nucleotide polymorphisms (SNPs). Single SNPs and haplotypes were analysed for associations with disease risk, age parameters, mini-mental state examination scores and cerebrospinal fluid biomarkers for @entity195 using logistic or linear regression. Genetic variation in @entity61809 did not influence risk of @entity191 . Weak associations with risk of @entity195 were seen for @entity71495 and @entity71496 (P (c) = 0.04 and P (c) = 0.02, respectively). Two SNPs ( @entity71495 and @entity71497 ) influenced risk of @entity231 (P (c) = 0.0007 and P (c) = 0.04, respectively). However, the allele of @entity71495 that caused increased risk of @entity195 caused reduced risk of @entity231 , speaking against a common functional effect of this particular SNP in the two diseases. Haplotype analyses did not add significantly to the associations found in the single SNP analyses. Altogether, these results do not convincingly support @entity61809 as a major susceptibility gene in any of the studied diseases, although there is a small effect of @entity61809 in relation to @entity231 .
