A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.
A genome-wide association study in the Japanese population identifies the 12q24 locus for habitual coffee consumption: The J-MICC Study.
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日本人群中全基因组协会的研究确定了习惯性咖啡消费的12q24基因座：J-MICC研究。
DOI：
10.1038/s41598-018-19914-w
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发表时间：
2018-01-24
影响因子：
4.6
通讯作者：
Tanaka H
中科院分区：
文献类型：
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作者：
Nakagawa-Senda H;Hachiya T;Shimizu A;Hosono S;Oze I;Watanabe M;Matsuo K;Ito H;Hara M;Nishida Y;Endoh K;Kuriki K;Katsuura-Kamano S;Arisawa K;Nindita Y;Ibusuki R;Suzuki S;Hosono A;Mikami H;Nakamura Y;Takashima N;Nakamura Y;Kuriyama N;Ozaki E;Furusyo N;Ikezaki H;Nakatochi M;Sasakabe T;Kawai S;Okada R;Hishida A;Naito M;Wakai K;Momozawa Y;Kubo M;Tanaka H
咖啡是世界上消费最广泛的饮料之一，它对人类健康的作用受到了极大的关注。尽管全基因组关联研究(GWAS)已经在欧洲人群中调查了与咖啡消费相关的遗传变异，但还没有在亚洲人群中进行这样的研究。在这里，我们在日本多机构协作队列(J-MICC)研究中招募的11,261名日本人中，进行了一项全球遗传多样性研究，以确定影响咖啡消费的常见基因变异。使用自填式问卷收集咖啡消费量，并将其从类别转换为每天杯。在发现阶段(n = 6,312)，我们发现了2个具有提示意义的独立基因座(12q24.12-13和5q33.3)(P <； 1 × 10−6)。在复制阶段(n = 4,949)，12q24.12-13基因座的先导变异(Rs2074356)与习惯性饮用咖啡(P = 2.2 × 10−6)显著相关，而5q33.3基因座的先导变异(Rs1957553)与习惯性饮用咖啡无关(P = 0.53)。对发现和复制群体的荟萃分析以及对所有受试者的联合分析表明，rs2074356实现了全基因组意义(荟萃分析的P = 2.2 × 10−16)。这些发现表明，12q24.12-13基因座与日本人的咖啡消费有关。
Coffee is one of the most widely consumed beverages worldwide, and its role in human health has received much attention. Although genome-wide association studies (GWASs) have investigated genetic variants associated with coffee consumption in European populations, no such study has yet been conducted in an Asian population. Here, we conducted a GWAS to identify common genetic variations that affected coffee consumption in a Japanese population of 11,261 participants recruited as a part of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study. Coffee consumption was collected using a self-administered questionnaire, and converted from categories to cups/day. In the discovery stage (n = 6,312), we found 2 independent loci (12q24.12–13 and 5q33.3) that met suggestive significance (P < 1 × 10−6). In the replication stage (n = 4,949), the lead variant for the 12q24.12–13 locus (rs2074356) was significantly associated with habitual coffee consumption (P = 2.2 × 10−6), whereas the lead variant for the 5q33.3 locus (rs1957553) was not (P = 0.53). A meta-analysis of the discovery and replication populations, and the combined analysis using all subjects, revealed that rs2074356 achieved genome-wide significance (P = 2.2 × 10−16 for a meta-analysis). These findings indicate that the 12q24.12-13 locus is associated with coffee consumption among a Japanese population.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
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影响因子：
30.8
作者：
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Fuchsberger, Christian
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14.8
作者：
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通讯作者：
Ng, Pauline C.
影响因子：
9.2
作者：
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通讯作者：
Lee JJ
影响因子：
7.1
作者：
Josse, Andrea R.;Da Costa, Laura A.;El-Sohemy, Ahmed
通讯作者：
El-Sohemy, Ahmed