SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

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 Moriaha; 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; 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

doi:10.1371/journal.pone.0058618

SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

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 KawaseHiroyasu Akatsu, Kenji Kosaka, Takayuki Yamamoto, Masaki Imagawa, Tsuyoshi Hamaguchi, Masahito Yamada, Takashi Moriaha, 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, 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

HOSP - Internal Medicine

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Abstract

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.

Original language	English
Article number	e58618
Journal	PLoS ONE
Volume	8
Issue number	4
DOIs	https://doi.org/10.1371/journal.pone.0058618
Publication status	Published - 2013 Apr 2

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Miyashita, A., Koike, A., Jun, G., Wang, L. S., Takahashi, S., Matsubara, E., Kawarabayashi, T., Shoji, M., Tomita, N., Arai, H., Asada, T., Harigaya, Y., Ikeda, M., Amari, M., Hanyu, H., Higuchi, S., Ikeuchi, T., Nishizawa, M., Suga, M., ... Kuwano, R. (2013). SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians. PLoS ONE, 8(4), Article e58618. https://doi.org/10.1371/journal.pone.0058618

@article{91c3b9ffe37a49a5b99bc70ed5189582,

title = "SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians",

abstract = "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.",

author = "Akinori Miyashita and Asako Koike and Gyungah Jun and Wang, {Li San} and Satoshi Takahashi and Etsuro Matsubara and Takeshi Kawarabayashi and Mikio Shoji and Naoki Tomita and Hiroyuki Arai and Takashi Asada and Yasuo Harigaya and Masaki Ikeda and Masakuni Amari and Haruo Hanyu and Susumu Higuchi and Takeshi Ikeuchi and Masatoyo Nishizawa and Masaichi Suga and Yasuhiro Kawase and Hiroyasu Akatsu and Kenji Kosaka and Takayuki Yamamoto and Masaki Imagawa and Tsuyoshi Hamaguchi and Masahito Yamada and Takashi Moriaha and Masatoshi Takeda and Takeo Takao and Kenji Nakata and Yoshikatsu Fujisawa and Ken Sasaki and Ken Watanabe and Kenji Nakashima and Katsuya Urakami and Terumi Ooya and Mitsuo Takahashi and Takefumi Yuzuriha and Kayoko Serikawa and Seishi Yoshimoto and Ryuji Nakagawa and Kim, {Jong Won} and Ki, {Chang Seok} and Won, {Hong Hee} and Na, {Duk L.} and Seo, {Sang Won} and Inhee Mook-Jung and {St. George-Hyslop}, Peter and Richard Mayeux and Haines, {Jonathan L.} and Pericak-Vance, {Margaret A.} and Makiko Yoshida and Nao Nishida and Katsushi Tokunaga and Ken Yamamoto and Shoji Tsuji and Ichiro Kanazawa and Yasuo Ihara and Schellenberg, {Gerard D.} and Farrer, {Lindsay A.} and Ryozo Kuwano",

note = "Funding Information: We have the following interests. The Kathleen Price Bryan Brain Bank at Duke University Medical Center is funded by NINDS grant #NS39764, NIMH MH60451 and by Glaxo Smith Kline. Genotyping of the TGEN2 cohort was supported by Kronos Science. Asako Koike and Makiko Yoshida are employed by Central Research Laboratory, Hitachi Ltd. There are no patents, products in development or marketed products to declare. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials, as detailed online in the guide for authors. ",

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Miyashita, A, Koike, A, Jun, G, Wang, LS, Takahashi, S, Matsubara, E, Kawarabayashi, T, Shoji, M, Tomita, N, Arai, H, Asada, T, Harigaya, Y, Ikeda, M, Amari, M, Hanyu, H, Higuchi, S, Ikeuchi, T, Nishizawa, M, Suga, M, Kawase, Y, Akatsu, H, Kosaka, K, Yamamoto, T, Imagawa, M, Hamaguchi, T, Yamada, M, Moriaha, T, Takeda, M, Takao, T, Nakata, K, Fujisawa, Y, Sasaki, K, Watanabe, K, Nakashima, K, Urakami, K, Ooya, T, Takahashi, M, Yuzuriha, T, Serikawa, K, Yoshimoto, S, Nakagawa, R, Kim, JW, Ki, CS, Won, HH, Na, DL, Seo, SW, Mook-Jung, I, St. George-Hyslop, P, Mayeux, R, Haines, JL, Pericak-Vance, MA, Yoshida, M, Nishida, N, Tokunaga, K, Yamamoto, K, Tsuji, S, Kanazawa, I, Ihara, Y, Schellenberg, GD, Farrer, LA & Kuwano, R 2013, 'SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians', PLoS ONE, vol. 8, no. 4, e58618. https://doi.org/10.1371/journal.pone.0058618

TY - JOUR

T1 - SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

AU - Miyashita, Akinori

AU - Koike, Asako

AU - Jun, Gyungah

AU - Wang, Li San

AU - Takahashi, Satoshi

AU - Matsubara, Etsuro

AU - Kawarabayashi, Takeshi

AU - Shoji, Mikio

AU - Tomita, Naoki

AU - Arai, Hiroyuki

AU - Asada, Takashi

AU - Harigaya, Yasuo

AU - Ikeda, Masaki

AU - Amari, Masakuni

AU - Hanyu, Haruo

AU - Higuchi, Susumu

AU - Ikeuchi, Takeshi

AU - Nishizawa, Masatoyo

AU - Suga, Masaichi

AU - Kawase, Yasuhiro

AU - Akatsu, Hiroyasu

AU - Kosaka, Kenji

AU - Yamamoto, Takayuki

AU - Imagawa, Masaki

AU - Hamaguchi, Tsuyoshi

AU - Yamada, Masahito

AU - Moriaha, Takashi

AU - Takeda, Masatoshi

AU - Takao, Takeo

AU - Nakata, Kenji

AU - Fujisawa, Yoshikatsu

AU - Sasaki, Ken

AU - Watanabe, Ken

AU - Nakashima, Kenji

AU - Urakami, Katsuya

AU - Ooya, Terumi

AU - Takahashi, Mitsuo

AU - Yuzuriha, Takefumi

AU - Serikawa, Kayoko

AU - Yoshimoto, Seishi

AU - Nakagawa, Ryuji

AU - Kim, Jong Won

AU - Ki, Chang Seok

AU - Won, Hong Hee

AU - Na, Duk L.

AU - Seo, Sang Won

AU - Mook-Jung, Inhee

AU - St. George-Hyslop, Peter

AU - Mayeux, Richard

AU - Haines, Jonathan L.

AU - Pericak-Vance, Margaret A.

AU - Yoshida, Makiko

AU - Nishida, Nao

AU - Tokunaga, Katsushi

AU - Yamamoto, Ken

AU - Tsuji, Shoji

AU - Kanazawa, Ichiro

AU - Ihara, Yasuo

AU - Schellenberg, Gerard D.

AU - Farrer, Lindsay A.

AU - Kuwano, Ryozo

N1 - Funding Information: We have the following interests. The Kathleen Price Bryan Brain Bank at Duke University Medical Center is funded by NINDS grant #NS39764, NIMH MH60451 and by Glaxo Smith Kline. Genotyping of the TGEN2 cohort was supported by Kronos Science. Asako Koike and Makiko Yoshida are employed by Central Research Laboratory, Hitachi Ltd. There are no patents, products in development or marketed products to declare. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials, as detailed online in the guide for authors.

PY - 2013/4/2

Y1 - 2013/4/2

N2 - 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.

AB - 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.

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U2 - 10.1371/journal.pone.0058618

DO - 10.1371/journal.pone.0058618

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AN - SCOPUS:84875661996

SN - 1932-6203

VL - 8

JO - PLoS ONE

JF - PLoS ONE

IS - 4

M1 - e58618

ER -

SORL1 Is Genetically Associated with Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians

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