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As with other multifactorial diseases, the pathogenesis results from interactions of environmental and genetic factors. The genetic basis of DLB is not yet fully understood. Recent genomic analyses of DLB in Caucasian cohorts identified genetic susceptibility loci for DLB, but the comprehensive genomic analysis in Asians was still not performed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We conducted a genome-wide association study (GWAS) in Japanese subjects (211 DLB cases and 6113 controls) to clarify the genetic architecture of DLB pathogenesis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We identified the East Asian\u2013specific <jats:italic>DHTKD1<\/jats:italic> locus (rs138587229) on chromosome 10 with genome-wide significance (GWS; <jats:italic>P<\/jats:italic>\u2009=\u20093.27 <jats:inline-formula>\n                <jats:alternatives>\n                  <jats:tex-math>$$\\times$$<\/jats:tex-math>\n                  <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\">\n                    <mml:mo>\u00d7<\/mml:mo>\n                  <\/mml:math>\n                <\/jats:alternatives>\n              <\/jats:inline-formula> 10<jats:sup>\u20138<\/jats:sup>) and the <jats:italic>ICOS<\/jats:italic>\/<jats:italic>PARD3B<\/jats:italic> locus on chromosome 2 with suggestive significance (<jats:italic>P<\/jats:italic>\u2009=\u20093.95 <jats:inline-formula>\n                <jats:alternatives>\n                  <jats:tex-math>$$\\times$$<\/jats:tex-math>\n                  <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\">\n                    <mml:mo>\u00d7<\/mml:mo>\n                  <\/mml:math>\n                <\/jats:alternatives>\n              <\/jats:inline-formula> 10<jats:sup>\u20137<\/jats:sup>) as novel DLB genetic risk loci. We also confirmed the <jats:italic>APOE<\/jats:italic> locus (rs429358, <jats:italic>P<\/jats:italic>\u2009&lt;\u20095.0\u2009\u00d7\u200910<jats:sup>\u20138<\/jats:sup>), a known risk locus for DLB and Alzheimer\u2019s disease in Caucasians. The <jats:italic>DHTKD1<\/jats:italic> locus was associated with the gene expression of <jats:italic>SEC61A2<\/jats:italic> and showed a causal relationship with cholinesterase levels. In a trans-ethnic meta-analysis that included Japanese, UK Biobank, and other Caucasian GWAS, we confirmed the risk for DLB at <jats:italic>APOE<\/jats:italic> and <jats:italic>SNCA<\/jats:italic> loci with GWS. Transcriptome-wide association analysis identified <jats:italic>ZNF155<\/jats:italic> and <jats:italic>ZNF284<\/jats:italic> in the brain cortex and <jats:italic>GPRIN3<\/jats:italic> in the substantia nigra as putative causal genes for DLB.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This is the first GWAS for DLB in East Asians, and our findings provide new biological and clinical insights into the pathogenesis of DLB.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s10020-025-01115-7","type":"journal-article","created":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T01:11:41Z","timestamp":1741223501000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A genome-wide association study identifies a novel East Asian\u2013specific locus for dementia with Lewy bodies in Japanese subjects"],"prefix":"10.1186","volume":"31","author":[{"given":"Risa","family":"Mitsumori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuya","family":"Asanomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Morizono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daichi","family":"Shigemizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shumpei","family":"Niida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouichi","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,6]]},"reference":[{"key":"1115_CR1","first-page":"48","volume":"10","author":"AD Alkalay","year":"2013","unstructured":"Alkalay AD, Rabinovici G, Zimmerman G, Agarwal N, Kaufer D, et al. 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