Nagoya University · Medicine
Professor Masahiro Nakatochi's research lab specializes in genomic epidemiology, focusing on identifying genetic and epigenetic factors underlying common complex diseases in the Japanese population. The lab conducts large-scale genome-wide association studies (GWAS), epigenome-wide association studies (EWAS), and meta-analyses to uncover genetic variants and DNA methylation sites linked to diseases such as myocardial infarction, gout, and pancreatic cancer. A key emphasis is on discovering population-specific genetic risk factors, particularly those relevant to Asian populations, and translating these findings into predictive risk models for early detection and prevention.
Figures are computed from collected data and may differ slightly.
We identified two DNAm sites-cg07786668 in <i>ZFHX3</i> and cg17218495 in <i>SMARCA4</i>- that are independently and significantly associated with MI. Our results suggest that the development of MI might be influenced by changes in DNAm at these sites via a pathway that differs from that affected by CVD-associated SNPs in these genes. The Kita-Nagoya Genomic Epidemiology (KING) study, which was the source of control samples in the present study, was registered in ClinicalTrials.gov (NCT00262691)
Gout is a common arthritis caused by elevated serum uric acid (SUA) levels. Here we investigated loci influencing SUA in a genome-wide meta-analysis with 121,745 Japanese subjects. We identified 8948 variants at 36 genomic loci (<i>P</i><5 × 10<sup>-8</sup>) including eight novel loci. Of these, missense variants of <i>SESN2</i> and <i>PNPLA3</i> were predicted to be damaging to the function of these proteins; another five loci-<i>TMEM18</i>, <i>TM4SF4</i>, <i>MXD3-LMAN2</i>, <i>PSORS1C1-PSORS1C
Pancreatic cancer is the fourth leading cause of cancer-related deaths in Japan. To identify risk loci, we perform a meta-analysis of three genome-wide association studies comprising 2,039 pancreatic cancer patients and 32,592 controls in the Japanese population. Here, we identify 3 (13q12.2, 13q22.1, and 16p12.3) genome-wide significant loci (P < 5.0 × 10<sup>-8</sup>), of which 16p12.3 has not been reported in the Western population. The lead single nucleotide polymorphism (SNP) at 16p12.3 is
Genome-wide association studies (GWASs) have identified many single nucleotide polymorphisms (SNPs) that are significantly associated with pancreatic cancer susceptibility. We sought to replicate the associations of 61 GWAS-identified SNPs at 42 loci with pancreatic cancer in Japanese and to develop a risk model for the identification of individuals at high risk for pancreatic cancer development in the general Japanese population. The model was based on data including directly determined or impu
Open papers in the app to read, cite, and organize with AI.
