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Sci Rep:意大利学者揭示与咖啡消耗有关的基因

摘要 : 2016年8月25日,国际学术权威刊物自然出版集团旗下子刊《Scientific Reports》杂志在线发表了意大利里雅斯特大学Nicola Pirastu研究员的一篇研究论文,研究识别出了一个可能与咖啡消耗量调节有关的基因。

 2016年8月25日,国际学术权威刊物自然出版集团旗下子刊《Scientific Reports》杂志在线发表了意大利里雅斯特大学Nicola Pirastu研究员的一篇研究论文,研究识别出了一个可能与咖啡消耗量调节有关的基因

本次研究发现PDSS2基因或许能调节与咖啡因代谢有关的基因表达。 Nicola Pirastu及同事在两个意大利人群中开展了全基因组关联分析,其中一组370位被试来自意大利南部一个小村庄,另一组843位被试来自意大利东北部的六个村庄。研究人员询问了被试者每天的咖啡消耗量(以杯为单位),并在1731位来自荷兰的独立被试者身上重复了实验。在分析中,研究者发现PDSS2基因的表达与咖啡消耗量有关,两者呈负相关关系。他们 表示,如果PDSS2基因表达的蛋白质水平较高,与咖啡因代谢通路有关的基因的表达便会受到抑制,因此阻碍了咖啡因降解。 作者指出,要确认他们的发现、阐明将PDSS2基因与咖啡消耗联系起来的生理机制,还需被试者数量更大的进一步研究。


Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption


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.

来源: Scientific Reports 浏览次数:0


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