Nagoya University · 의학
마사히로 나카토치 교수의 연구실은 일본인을 대상으로 한 유전체 전반적 연관 연구(GWAS)를 중심으로, 심혈관질환, 통풍, 췌장암 등 주요 만성질환의 유전적 기반을 규명하고 있습니다. 특히 DNA 메틸화 변화와 유전자 다형성의 상관관계를 분석하여 질환 발생 메커니즘을 밝히는 데 초점을 맞추고 있으며, 아시아 특화 유전자 변이의 역할을 규명하는 데 기여하고 있습니다. 연구는 대규모 인구 기반 코hort 데이터를 기반으로 하여 임상적 응용가능성이 높은 유전자 기반 위험 예측 모델 개발에도 주력하고 있습니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
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
