SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Geneti...
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2013
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oai:doaj.org-article:0e666a618e5646909cf4e46bb2598bac2021-11-18T07:51:08ZSORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.1932-620310.1371/journal.pone.0058618https://doaj.org/article/0e666a618e5646909cf4e46bb2598bac2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23565137/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10(-5) were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10(-7) in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10(-5)) and rs744373 near BIN1 (P = 1.39×10(-4)). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations.Akinori MiyashitaAsako KoikeGyungah JunLi-San WangSatoshi TakahashiEtsuro MatsubaraTakeshi KawarabayashiMikio ShojiNaoki TomitaHiroyuki AraiTakashi AsadaYasuo HarigayaMasaki IkedaMasakuni AmariHaruo HanyuSusumu HiguchiTakeshi IkeuchiMasatoyo NishizawaMasaichi SugaYasuhiro KawaseHiroyasu AkatsuKenji KosakaTakayuki YamamotoMasaki ImagawaTsuyoshi HamaguchiMasahito YamadaTakashi MoriharaMasatoshi TakedaTakeo TakaoKenji NakataYoshikatsu FujisawaKen SasakiKen WatanabeKenji NakashimaKatsuya UrakamiTerumi OoyaMitsuo TakahashiTakefumi YuzurihaKayoko SerikawaSeishi YoshimotoRyuji NakagawaJong-Won KimChang-Seok KiHong-Hee WonDuk L NaSang Won SeoInhee Mook-JungAlzheimer Disease Genetics ConsortiumPeter St George-HyslopRichard MayeuxJonathan L HainesMargaret A Pericak-VanceMakiko YoshidaNao NishidaKatsushi TokunagaKen YamamotoShoji TsujiIchiro KanazawaYasuo IharaGerard D SchellenbergLindsay A FarrerRyozo KuwanoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e58618 (2013) |
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| topic |
Medicine R Science Q |
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Medicine R Science Q Akinori Miyashita Asako Koike Gyungah Jun Li-San Wang Satoshi Takahashi Etsuro Matsubara Takeshi Kawarabayashi Mikio Shoji Naoki Tomita Hiroyuki Arai Takashi Asada Yasuo Harigaya Masaki Ikeda Masakuni Amari Haruo Hanyu Susumu Higuchi Takeshi Ikeuchi Masatoyo Nishizawa Masaichi Suga Yasuhiro Kawase Hiroyasu Akatsu Kenji Kosaka Takayuki Yamamoto Masaki Imagawa Tsuyoshi Hamaguchi Masahito Yamada Takashi Morihara Masatoshi Takeda Takeo Takao Kenji Nakata Yoshikatsu Fujisawa Ken Sasaki Ken Watanabe Kenji Nakashima Katsuya Urakami Terumi Ooya Mitsuo Takahashi Takefumi Yuzuriha Kayoko Serikawa Seishi Yoshimoto Ryuji Nakagawa Jong-Won Kim Chang-Seok Ki Hong-Hee Won Duk L Na Sang Won Seo Inhee Mook-Jung Alzheimer Disease Genetics Consortium Peter St George-Hyslop Richard Mayeux Jonathan L Haines Margaret A Pericak-Vance Makiko Yoshida Nao Nishida Katsushi Tokunaga Ken Yamamoto Shoji Tsuji Ichiro Kanazawa Yasuo Ihara Gerard D Schellenberg Lindsay A Farrer Ryozo Kuwano SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| description |
To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10(-5) were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10(-7) in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10(-5)) and rs744373 near BIN1 (P = 1.39×10(-4)). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations. |
| format |
article |
| author |
Akinori Miyashita Asako Koike Gyungah Jun Li-San Wang Satoshi Takahashi Etsuro Matsubara Takeshi Kawarabayashi Mikio Shoji Naoki Tomita Hiroyuki Arai Takashi Asada Yasuo Harigaya Masaki Ikeda Masakuni Amari Haruo Hanyu Susumu Higuchi Takeshi Ikeuchi Masatoyo Nishizawa Masaichi Suga Yasuhiro Kawase Hiroyasu Akatsu Kenji Kosaka Takayuki Yamamoto Masaki Imagawa Tsuyoshi Hamaguchi Masahito Yamada Takashi Morihara Masatoshi Takeda Takeo Takao Kenji Nakata Yoshikatsu Fujisawa Ken Sasaki Ken Watanabe Kenji Nakashima Katsuya Urakami Terumi Ooya Mitsuo Takahashi Takefumi Yuzuriha Kayoko Serikawa Seishi Yoshimoto Ryuji Nakagawa Jong-Won Kim Chang-Seok Ki Hong-Hee Won Duk L Na Sang Won Seo Inhee Mook-Jung Alzheimer Disease Genetics Consortium Peter St George-Hyslop Richard Mayeux Jonathan L Haines Margaret A Pericak-Vance Makiko Yoshida Nao Nishida Katsushi Tokunaga Ken Yamamoto Shoji Tsuji Ichiro Kanazawa Yasuo Ihara Gerard D Schellenberg Lindsay A Farrer Ryozo Kuwano |
| author_facet |
Akinori Miyashita Asako Koike Gyungah Jun Li-San Wang Satoshi Takahashi Etsuro Matsubara Takeshi Kawarabayashi Mikio Shoji Naoki Tomita Hiroyuki Arai Takashi Asada Yasuo Harigaya Masaki Ikeda Masakuni Amari Haruo Hanyu Susumu Higuchi Takeshi Ikeuchi Masatoyo Nishizawa Masaichi Suga Yasuhiro Kawase Hiroyasu Akatsu Kenji Kosaka Takayuki Yamamoto Masaki Imagawa Tsuyoshi Hamaguchi Masahito Yamada Takashi Morihara Masatoshi Takeda Takeo Takao Kenji Nakata Yoshikatsu Fujisawa Ken Sasaki Ken Watanabe Kenji Nakashima Katsuya Urakami Terumi Ooya Mitsuo Takahashi Takefumi Yuzuriha Kayoko Serikawa Seishi Yoshimoto Ryuji Nakagawa Jong-Won Kim Chang-Seok Ki Hong-Hee Won Duk L Na Sang Won Seo Inhee Mook-Jung Alzheimer Disease Genetics Consortium Peter St George-Hyslop Richard Mayeux Jonathan L Haines Margaret A Pericak-Vance Makiko Yoshida Nao Nishida Katsushi Tokunaga Ken Yamamoto Shoji Tsuji Ichiro Kanazawa Yasuo Ihara Gerard D Schellenberg Lindsay A Farrer Ryozo Kuwano |
| author_sort |
Akinori Miyashita |
| title |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| title_short |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| title_full |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| title_fullStr |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| title_full_unstemmed |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. |
| title_sort |
sorl1 is genetically associated with late-onset alzheimer's disease in japanese, koreans and caucasians. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/0e666a618e5646909cf4e46bb2598bac |
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