Preliminary Studies on Genetic Profiling of Coffee and Caffeine Consumption
Santos, Roseane M.
Regular coffee intake has been associated with reduced risk of developing serious chronic diseases. The hypothesis of this study is that coffee consumers present a particular pattern/trend of genotypes that ultimately will shed light on new gene targets to treat the diseases, from which regular coffee intake has preventive effects. Sixteen SNPs identified at genome-wide association studies (GWAS) on coffee and caffeine consumption were genotyped using real-time restriction-fragment length polymorphism-polymerase chain reaction (RT-PCR). The DNA samples were the same from a previous pilot study where 15 healthy volunteers donated two blood samples collected before and after drinking a standard cup of coffee and had caffeine plasma levels and CYP 1A2 genotype (rs762551) determined. The cross-examination of the data showed that six of the sixteen SNPs exhibited a negative allelic effect direction and nine of them showed a positive effect direction of which three of them had results confirmed by a recent GWAS. There is a need of a more in-depth study to understand the effects of the presence or absence of specific variant alleles as players to benefit the health of coffee consumers.
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