Essentially, all models are wrong, but some are useful.
In the current study, the researchers found that people who had 1 copy of the KL-VS variant performed better on a battery of cognitive tests than those who did not have it, regardless of age, sex, or the presence of the APOE ε4 allele, the main genetic risk factor for Alzheimer's disease.
pgf54 wrote:Circ I think Lily is referring to RS9536314, however please correct me if I am wrong...I am heterozygous Gt which I believe is the positive one to have. Its the G allele that gives benefit?
There seem to be two SNPs involved: rs9536314 and rs9527025.
I'm homozygous on the first one. The second one is not listed in my 23andme dump. I'm guessing that that means I'm not a carrier of the KLOTHO variant.
A common variant of the human KLOTHO gene (KL), is reproducibly associated with longevity [4,5]. The Klotho protein is encoded by a 50-kb gene on chromosome 13q12, which consists of 5 exons . A haplotype, "KL-VS", composed of six single nucleotide polymorphisms (SNPs), spans exon 2 and its flanking sequence and is present in approximately 15% of Caucasians . Two of these SNPs result in amino acid substitutions: F352V (rs9536314) and C370S (rs9527025). "KL-VS" refers to the V and S alleles of these SNPs respectively, and since all six SNPs occur in perfect linkage disequilibrium, a single variant, F352V, can be used to tag the haplotype .
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