Tetratricopeptide Repeat Domain Protein 39B (TTC39B)

The 95 loci contributed not only to normal variation in lipid traits but also to extreme lipid phenotypes and affected lipid traits in 3 non-European populations. Teslovich et al. (2010) identified rs581080, a SNP in the TTC39B gene on chromosome 9p22, as having an effect on high density lipoprotein cholesterol (HDL-C) concentrations with an effect size of -0.65 mg per deciliter and a P value of 3 x 10(-12). In liver, the allele associated with decreased expression correlated with increased HDL-C. Teslovich et al. (2010) found that knockdown in mouse liver of the ortholog Ttc39b via a viral vector resulted in significantly higher plasma HDL-C levels. Hartz (2010) mapped the TTC39B gene to chromosome 9p22.3 based on an alignment of the TTC39B sequence with the genomic sequence (GRCh37).