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2.10.3 Human Genetic Studies
ОглавлениеSeveral polymorphisms in or near SLC22A15 have been associated with monoacylglycerol levels (e.g., 1‐palmitoleoylglycerol) and triacylglycerol levels (e.g., TAG 52:1, TAG 48:2) [100, 101], as well as with fat‐related traits (e.g., body mass index, trunk fat mass, whole body fat mass) [102] in genome‐wide association studies. These associations are consistent with the functional role of SLC22A15 in the influx and efflux of carnitine and its derivatives. GWAS have also shown an association of polymorphisms in the SLC22A15 locus with neurological disorders, including autism and child developmental disorders. This is particularly interesting, given that SLC22A15 transports the antioxidant carnosine, which has also been noted as therapeutically beneficial in individuals diagnosed with autism and other neurological diseases [103].
Gene regulation of SLC22A15 is largely understudied. The transcription factor Yin Yang 1 (YY1) enhances SLC22A15 expression in colorectal cancer [104]. However, the identification of other transcription factors or regulatory mechanisms involved in the expression of SLC22A15 have not been identified to date.