Cohort profile: Tohoku medical megabank project birth and three-generation cohort study (TMM BirThree cohort study): rationale, progress and perspective
Although a large sample size is useful for the elucidation of what is called 'missing
heritability', which is an unexplained part of a total phenotypic variance in a quantitative trait …
heritability', which is an unexplained part of a total phenotypic variance in a quantitative trait …
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population
To understand the genetics of type 2 diabetes in people of Japanese ancestry, we
conducted A meta-analysis of four genome-wide association studies (GWAS; 36,614 cases …
conducted A meta-analysis of four genome-wide association studies (GWAS; 36,614 cases …
The Tohoku medical megabank project: design and mission
S Kuriyama, N Yaegashi, F Nagami, T Arai… - Journal of …, 2016 - jstage.jst.go.jp
ABSTRACT The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11,
2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The …
2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The …
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
JN Curry, M Saurette, M Askari, L Pei… - The Journal of …, 2020 - Am Soc Clin Investig
The major risk factor for kidney stone disease is idiopathic hypercalciuria. Recent evidence
implicates a role for defective calcium reabsorption in the renal proximal tubule. We …
implicates a role for defective calcium reabsorption in the renal proximal tubule. We …
Study profile of the tohoku medical megabank community-based cohort study
A Hozawa, K Tanno, N Nakaya, T Nakamura… - Journal of …, 2021 - jstage.jst.go.jp
Background: We established a community-based cohort study to assess the long-term
impact of the Great East Japan Earthquake on disaster victims and gene-environment …
impact of the Great East Japan Earthquake on disaster victims and gene-environment …
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma
Y Shiga, M Akiyama, KM Nishiguchi… - Human molecular …, 2018 - academic.oup.com
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness
worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 …
worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 …
Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes
H Matsuo, K Yamamoto, H Nakaoka… - Annals of the …, 2016 - ard.bmj.com
Objective Gout, caused by hyperuricaemia, is a multifactorial disease. Although genome-
wide association studies (GWASs) of gout have been reported, they included self-reported …
wide association studies (GWASs) of gout have been reported, they included self-reported …
Genetic variants of calcium and vitamin D metabolism in kidney stone disease
SA Howles, A Wiberg, M Goldsworthy… - Nature …, 2019 - nature.com
Kidney stone disease (nephrolithiasis) is a major clinical and economic health burden with a
heritability of~ 45–60%. We present genome-wide association studies in British and …
heritability of~ 45–60%. We present genome-wide association studies in British and …
Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals
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 …
investigated loci influencing SUA in a genome-wide meta-analysis with 121,745 Japanese …
ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload
H Matsuo, A Nakayama, M Sakiyama, T Chiba… - Scientific reports, 2014 - nature.com
Gout is a common disease which results from hyperuricemia. We have reported that the
dysfunction of urate exporter ABCG2 is the major cause of renal overload (ROL) …
dysfunction of urate exporter ABCG2 is the major cause of renal overload (ROL) …