图片来源：medicalxpress.com
日前，一项刊登于国际杂志Scientific Reports上的研究报告中，研究者鉴别出了一种能够抑制咖啡消耗的特殊基因，文章中，研究者发现，携带PDSS2基因突变（DNA突变）的个体往往更易于摄入较少的咖啡，这项研究发现，PDSS2基因能够降低细胞破碎咖啡因的能力，从而使得咖啡因在机体中长时间停留，这就意味着一个人或许并不需要过多地摄入咖啡也能得到较高水平的咖啡因。
这项研究还补充了此前的研究结论，此前研究中研究者鉴别出了和个体喝咖啡习惯相关连的基因，同时还阐明了机体咖啡因代谢的生物学机制；研究者对来自意大利东北部6个村庄的843名个体以及来自意大利南部小村庄的370名个体的遗传信息进行分析研究，研究者让每一位参与者都完成一项调查，调查内容中就包括个体每天所喝的咖啡杯数。
研究者发现，基因PDSS2 突变的个体相比未突变的个体而言更易于摄入较少杯的咖啡，而这种效应同平均每天饮用不到一杯咖啡产生的效应等同。随后研究者在来自荷兰的1731名参与者中重复了上述研究，他们得到了相类似的结果，但该基因对摄入咖啡杯数的效应稍微降低了一些，这或许是因为意大利和荷兰两个国家人们咖啡摄入方式的不同所致，在意大利，人们更习惯喝小杯咖啡，比如浓缩咖啡，而在荷兰人们更加偏好于饮用含有大量咖啡因的大杯咖啡。
最后研究者Nicola Pirastu指出，本文的研究结果补充了此前相关研究的结论，研究者认为，驱动我们喝咖啡的因素或许嵌入到了基因中，而后期我们还需要进行更加深入的大型研究来证实本文的研究发现，并且阐明基因PDSS2和咖啡消耗二者之间的生物学关联。
doi:10.1038/srep31590
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Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption.
Pirastu N1,2,3, Kooyman M4, Robino A1, van der Spek A4, Navarini L5, Amin N4, Karssen LC4,6, Van Duijn CM4,7, Gasparini P1,2.
Coffee is one of the most consumed beverages world-wide and one of the primary sources of caffeine intake. Given its important health and economic impact, the underlying genetics of its consumption has been widely studied. Despite these efforts, much has still to be uncovered. In particular, the use of non-additive genetic models may uncover new information about the genetic variants driving coffee consumption. We have conducted a genome-wide association study in two Italian populations using additive, recessive and dominant models for analysis. This has uncovered a significant association in the PDSS2 gene under the recessive model that has been replicated in an independent cohort from the Netherlands (ERF). The identified gene has been shown to negatively regulate the expression of the caffeine metabolism genes and can thus be linked to coffee consumption. Further bioinformatics analysis of eQTL and histone marks from Roadmap data has evidenced a possible role of the identified SNPs in regulating PDSS2 gene expression through enhancers present in its intron. Our results highlight a novel gene which regulates coffee consumption by regulating the expression of the genes linked to caffeine metabolism. Further studies will be needed to clarify the biological mechanism which links PDSS2 and coffee consumption.