In August of this year researchers at the University of Edinburgh published a study announcing the previously unknown role of the PDSS2 gene in the genetic basis of caffeine tolerance. After conducting a GWAS on two populations in Italy and one in The Netherlands, scientists found a correlation between coffee consumption and the presence of a variant of the PDSS2 gene. The gene, which is involved in the breakdown of caffeine, was found in a variant form in individuals who habitually drank less coffee than did the other, 'non-variant' participants. This is hypothesized to be because the variant was found to break caffeine down more slowly, and potentially decrease coffee consumption in affected individuals.
While studies on the heritability of caffeine tolerance have been conducted since the 1960s, many only used an additive genetic model. This study utilized a non-additive model in order to consider recessive or dominant genetic effects that might have gone undetected in previous studies. In fact this study was the first to recognize the influence of PDSS2 in caffeine tolerance, potentially due to its different modeling approach. In the future more study will need to be done on PDSS2 to better understand its role in caffeine tolerance, however the study has nonetheless illuminated a new mechanism in the heritability of caffeine tolerance and metabolism.
Regional plot of the results from the association analysis around the most significant SNPs.
References
Pirastu N, Kooyman M, Robino A, van der Spek A, Navarini L, Amin N, Karssen L C, Van Duijn C M, Gasparini P. 2016. Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. Scientific Reports 6
-Elliot Greiner
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