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Only three genes, <jats:italic>SNCA<\/jats:italic> (\u03b1\u2010synuclein), <jats:italic>APOE<\/jats:italic> (apolipoprotein E), and <jats:italic>GBA<\/jats:italic> (glucosylceramidase), have been convincingly demonstrated to be associated with DLB. Here, we applied whole\u2010genome sequencing to blood samples from 61 DLB patients and 45 cognitively normal controls. We used accumulation of candidate mutations to detect novel DLB\u2010associated genes. Subsequent single nucleotide polymorphism (SNP) genotyping and association studies in a large number of samples from Japanese individuals revealed novel heterozygous variants in <jats:italic>MFSD3<\/jats:italic> (rs143475431, c.888T&gt;A:p.C296*; <jats:italic>n<\/jats:italic>\u00a0=\u00a05,421, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.00063) and <jats:italic>MRPL43<\/jats:italic> (chr10:102746730, c.241A&gt;C:p.N81H; <jats:italic>n<\/jats:italic>\u00a0=\u00a04,782, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.0029). We further found that the <jats:italic>MFSD3<\/jats:italic> variant increased plasma levels of butyrylcholinesterase (<jats:italic>n<\/jats:italic>\u00a0=\u00a01,206, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.029). We believe that our findings will contribute to the understanding of DLB and provide insight into its pathogenic mechanism for future studies.<\/jats:p>","DOI":"10.1002\/ajmg.b.32908","type":"journal-article","created":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T06:33:58Z","timestamp":1656484438000},"page":"139-150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Network\u2010based meta\u2010analysis and the candidate gene association studies reveal novel ethnicity\u2010specific variants in <scp><i>MFSD3<\/i><\/scp> and <scp><i>MRPL43<\/i><\/scp> associated with dementia with Lewy bodies"],"prefix":"10.1002","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4412-0552","authenticated-orcid":false,"given":"Daichi","family":"Shigemizu","sequence":"first","affiliation":[{"name":"Medical Genome Center, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"},{"name":"RIKEN Center for Integrative Medical Sciences  Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuya","family":"Asanomi","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shintaro","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayuri","family":"Higaki","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Sakurai","sequence":"additional","affiliation":[{"name":"Department of Prevention and Care Science, Center for Development of Advanced Medicine for Dementia, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"},{"name":"Department of Cognitive and Behavioral Science Nagoya University Graduate School of Medicine  Nagoya Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kengo","family":"Ito","sequence":"additional","affiliation":[{"name":"National Center for Geriatrics and Gerontology  Obu Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shumpei","family":"Niida","sequence":"additional","affiliation":[{"name":"Core Facility Administration, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kouichi","family":"Ozaki","sequence":"additional","affiliation":[{"name":"Medical Genome Center, Research Institute National Center for Geriatrics and Gerontology  Obu Aichi Japan"},{"name":"RIKEN Center for Integrative Medical Sciences  Yokohama Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,28]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1206923"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.03.008"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-4-2"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx981"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1418631112"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41531-019-0080-x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/WAD.0b013e318065c4a9"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu334"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00228-014-1690-1"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00785-3"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910672106"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.170"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11690"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2016.06.004"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30400-3"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2016.2"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.21037\/jtd.2019.08.61"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/database\/baz146"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13195-018-0350-6"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2015.220"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004058"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.03.005"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30074-1"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2019.01.005"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.2174\/1871527313666141023141545"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-019-04480-8"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-10-159"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170047"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-019-0306-8"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-016-0867-8"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2017-017504"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1423573112"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1486"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00265"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx978"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1126\/sageke.2004.23.pe26"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1260419"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14962"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09639"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm124"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.810"}],"container-title":["American 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