Genome wide association analysis of age at menarche, menopause and menses cycle

初潮年龄、更年期和月经周期的全基因组关联分析

• 批准号: 23710316
• 负责人: TANIKAWA Chizu
• 金额: $ 2.83万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23710316/
• 关键词: 科学技術; 医療; 生命; ゲノムワイド関連解析

Age at menarche (AAM) is a complex trait involving both genetic and environmental factors. To identify the genetic factors associated with AAM, we conducted a large scale meta-analysis of genome-wide association studies using more than15,000 Japanese female samples. Here we identified an association between SNP (single nucleotide polymorphism) rs364663 at the LIN28B locus and AAM, with a P-value of 5.49 x10-7 and an effect size of 0.089 (year). We also evaluated 33 SNPs that were previouslyreported to be associated with AAM in women of European ancestry. Among them, two SNPs rs4452860 and rs7028916 in TMEM38B indicated significant association with AAM in the same directions as reported in previous studies (P = 0.0013 with an effect size of0.051) even after Bonferroni correction for the 33 SNPs. Our findings elucidated the impact of genetic variations on AAM in the Japanese population.

月经初潮年龄(AAM)是一个既涉及遗传因素又涉及环境因素的复杂性状。为了确定与AAM相关的遗传因素，我们对超过15,000个日本女性样本进行了大规模全基因组关联研究的荟萃分析。在此，我们确定了LIN28b基因座的单核苷酸多态(SNP)rs364663与AAM之间的关联，其P值为5.49x10-7，效应大小为0.089(年)。我们还评估了33个SNPs，这些SNPs在欧洲血统的女性中被报道与AAM相关。其中，TMEM38B中的两个SNPs rs4452860和rs7028916与AAM的关联与以往研究报道的方向相同(P=0.0013，效应大小为0.051)，即使在对这33个SNP进行Bonferroni校正后也显示出与AAM的显著关联。我们的发现阐明了基因变异对日本人群AAM的影响。

项目成果

A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.

• DOI: 10.1371/journal.pgen.1002541
• 发表时间: 2012
• 期刊: PLoS genetics
• 影响因子: 4.5
• 作者: Urabe Y;Tanikawa C;Takahashi A;Okada Y;Morizono T;Tsunoda T;Kamatani N;Kohri K;Chayama K;Kubo M;Nakamura Y;Matsuda K
• 通讯作者: Matsuda K

A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.

• DOI: 10.1016/j.jhep.2012.12.024
• 发表时间: 2013-05
• 期刊: Journal of hepatology
• 影响因子: 25.7
• 作者: Y. Urabe;H. Ochi;N. Kato;Vinod Kumar;A. Takahashi;R. Muroyama;N. Hosono;M. Otsuka;R. Tateishi;P. H. Lo;C. Tanikawa;M. Omata;K. Koike;D. Miki;H. Abe;N. Kamatani;J. Toyota;H. Kumada;M. Kubo;K. Chayama;Yusuke Nakamura;K. Matsuda

Soluble MICA and a MICA variation as possible prognostic biomarkers for HBV-induced hepatocellular carcinoma.

• DOI: 10.1371/journal.pone.0044743
• 发表时间: 2012
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Kumar V;Yi Lo PH;Sawai H;Kato N;Takahashi A;Deng Z;Urabe Y;Mbarek H;Tokunaga K;Tanaka Y;Sugiyama M;Mizokami M;Muroyama R;Tateishi R;Omata M;Koike K;Tanikawa C;Kamatani N;Kubo M;Nakamura Y;Matsuda K
• 通讯作者: Matsuda K

Regulation of histone modification and chromatin structure by the p53-PADI4 pathway

• DOI: 10.1038/ncomms1676
• 发表时间: 2012-02-01
• 期刊: NATURE COMMUNICATIONS
• 影响因子: 16.6
• 作者: Tanikawa, Chizu;Espinosa, Martha;Matsuda, Koichi
• 通讯作者: Matsuda, Koichi

Regulation of histone modification and chromatin structure by p53-PADI4 pathway

p53-PADI4 通路对组蛋白修饰和染色质结构的调节

• 作者: Chizu Tanikawa;Koichi Matsuda;Yusuke Nakamura
• 通讯作者: Yusuke Nakamura