|?|| (A;A) (A;G) (G;G) ||28|
[PMID 19451621] homozygosity for the favorable allele (CC) associated with a 14 month survival advantage in ALS patients. further analysis (sequence, genotypic, and functional) showed LD between rs1541160 and rs522444 and that favorable alleles correlate with reduced KIFAP3 expression.
However, a later study attempting to replicate these findings in a population-based cohort of 500 Italian ALS patients could not find any effect on either survival or gene expression based on any SNPs (including rs1541160) from the KIFAP3 locus.[PMID 20566859]
[PMID 21659726] Genetic Variation in KIFAP3 Is Associated with an Upper Motor Neuron-Predominant Phenotype in Amyotrophic Lateral Sclerosis
[PMID 22795786] No association of five candidate genetic variants with amyotrophic lateral sclerosis in a Chinese population