PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan

Kensuke Daida; Kenya Nishioka; Yuanzhe Li; Hiroyo Yoshino; Tomoyo Shimada; Nobuhiro Dougu; Yuji Nakatsuji; Shinji Ohara; Takao Hashimoto; Ryoichi Okiyama; Fusako Yokochi; Chieko Suzuki; Masahiko Tomiyama; Katsuo Kimura; Naohisa Ueda; Fumiaki Tanaka; Hitoshi Yamada; Shinsuke Fujioka; Yoshio Tsuboi; Takenori Uozumi; Takanobu Takei; Shigeru Matsuzaki; Morikazu Shibasaki; Kenichi Kashihara; Ryoichi Kurisaki; Tetsuji Yamashita; Nobuya Fujita; Yoshinori Hirata; Yuichiro Ii; Chizu Wada; Nobuyuki Eura; Kazuma Sugie; Yujiro Higuchi; Fumikazu Kojima; Hisamasa Imai; Kazuyuki Noda; Yasushi Shimo; Manabu Funayama; Nobutaka Hattori

doi:10.1016/j.neurobiolaging.2020.07.004

PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan

Kensuke Daida, Kenya Nishioka^*, Yuanzhe Li, Hiroyo Yoshino, Tomoyo Shimada, Nobuhiro Dougu, Yuji Nakatsuji, Shinji Ohara, Takao Hashimoto, Ryoichi Okiyama, Fusako Yokochi, Chieko Suzuki, Masahiko Tomiyama, Katsuo Kimura, Naohisa Ueda, Fumiaki Tanaka, Hitoshi Yamada, Shinsuke Fujioka, Yoshio Tsuboi, Takenori UozumiTakanobu Takei, Shigeru Matsuzaki, Morikazu Shibasaki, Kenichi Kashihara, Ryoichi Kurisaki, Tetsuji Yamashita, Nobuya Fujita, Yoshinori Hirata, Yuichiro Ii, Chizu Wada, Nobuyuki Eura, Kazuma Sugie, Yujiro Higuchi, Fumikazu Kojima, Hisamasa Imai, Kazuyuki Noda, Yasushi Shimo, Manabu Funayama, Nobutaka Hattori

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.

Original language	English
Pages (from-to)	147.e1-147.e9
Journal	Neurobiology of Aging
Volume	97
DOIs	https://doi.org/10.1016/j.neurobiolaging.2020.07.004
State	Published - 2021/01

Keywords

Genetics
Heterozygote variants
MIBG myocardial scintigraphy
PLA2G6
Parkinson's disease

ASJC Scopus subject areas

Clinical Neurology
Geriatrics and Gerontology
Aging
General Neuroscience
Developmental Biology

Access to Document

10.1016/j.neurobiolaging.2020.07.004

Cite this

Daida, K., Nishioka, K., Li, Y., Yoshino, H., Shimada, T., Dougu, N., Nakatsuji, Y., Ohara, S., Hashimoto, T., Okiyama, R., Yokochi, F., Suzuki, C., Tomiyama, M., Kimura, K., Ueda, N., Tanaka, F., Yamada, H., Fujioka, S., Tsuboi, Y., ... Hattori, N. (2021). PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan. Neurobiology of Aging, 97, 147.e1-147.e9. https://doi.org/10.1016/j.neurobiolaging.2020.07.004

@article{769b78258f14468da2a3543af4ba27d5,

title = "PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan",

abstract = "This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.",

keywords = "Genetics, Heterozygote variants, MIBG myocardial scintigraphy, PLA2G6, Parkinson's disease",

author = "Kensuke Daida and Kenya Nishioka and Yuanzhe Li and Hiroyo Yoshino and Tomoyo Shimada and Nobuhiro Dougu and Yuji Nakatsuji and Shinji Ohara and Takao Hashimoto and Ryoichi Okiyama and Fusako Yokochi and Chieko Suzuki and Masahiko Tomiyama and Katsuo Kimura and Naohisa Ueda and Fumiaki Tanaka and Hitoshi Yamada and Shinsuke Fujioka and Yoshio Tsuboi and Takenori Uozumi and Takanobu Takei and Shigeru Matsuzaki and Morikazu Shibasaki and Kenichi Kashihara and Ryoichi Kurisaki and Tetsuji Yamashita and Nobuya Fujita and Yoshinori Hirata and Yuichiro Ii and Chizu Wada and Nobuyuki Eura and Kazuma Sugie and Yujiro Higuchi and Fumikazu Kojima and Hisamasa Imai and Kazuyuki Noda and Yasushi Shimo and Manabu Funayama and Nobutaka Hattori",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2021",

month = jan,

doi = "10.1016/j.neurobiolaging.2020.07.004",

language = "英語",

volume = "97",

pages = "147.e1--147.e9",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

}

Daida, K, Nishioka, K, Li, Y, Yoshino, H, Shimada, T, Dougu, N, Nakatsuji, Y, Ohara, S, Hashimoto, T, Okiyama, R, Yokochi, F, Suzuki, C, Tomiyama, M, Kimura, K, Ueda, N, Tanaka, F, Yamada, H, Fujioka, S, Tsuboi, Y, Uozumi, T, Takei, T, Matsuzaki, S, Shibasaki, M, Kashihara, K, Kurisaki, R, Yamashita, T, Fujita, N, Hirata, Y, Ii, Y, Wada, C, Eura, N, Sugie, K, Higuchi, Y, Kojima, F, Imai, H, Noda, K, Shimo, Y, Funayama, M & Hattori, N 2021, 'PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan', Neurobiology of Aging, vol. 97, pp. 147.e1-147.e9. https://doi.org/10.1016/j.neurobiolaging.2020.07.004

TY - JOUR

T1 - PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan

AU - Daida, Kensuke

AU - Nishioka, Kenya

AU - Li, Yuanzhe

AU - Yoshino, Hiroyo

AU - Shimada, Tomoyo

AU - Dougu, Nobuhiro

AU - Nakatsuji, Yuji

AU - Ohara, Shinji

AU - Hashimoto, Takao

AU - Okiyama, Ryoichi

AU - Yokochi, Fusako

AU - Suzuki, Chieko

AU - Tomiyama, Masahiko

AU - Kimura, Katsuo

AU - Ueda, Naohisa

AU - Tanaka, Fumiaki

AU - Yamada, Hitoshi

AU - Fujioka, Shinsuke

AU - Tsuboi, Yoshio

AU - Uozumi, Takenori

AU - Takei, Takanobu

AU - Matsuzaki, Shigeru

AU - Shibasaki, Morikazu

AU - Kashihara, Kenichi

AU - Kurisaki, Ryoichi

AU - Yamashita, Tetsuji

AU - Fujita, Nobuya

AU - Hirata, Yoshinori

AU - Ii, Yuichiro

AU - Wada, Chizu

AU - Eura, Nobuyuki

AU - Sugie, Kazuma

AU - Higuchi, Yujiro

AU - Kojima, Fumikazu

AU - Imai, Hisamasa

AU - Noda, Kazuyuki

AU - Shimo, Yasushi

AU - Funayama, Manabu

AU - Hattori, Nobutaka

PY - 2021/1

Y1 - 2021/1

N2 - This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.

AB - This study aimed to evaluate genotype-phenotype correlations of Parkinson's disease (PD) patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 patients with PD, including 78 PD patients reported previously, and 336 in-house controls. We screened the exons and exon-intron boundaries of PLA2G6 using the Ion Torrent system and Sanger method. We identified 21 patients with 18 rare variants, such that 1, 9, and 11 patients were homozygous, heterozygous, and compound heterozygous, respectively, with respect to PLA2G6 variants. The allele frequency was approximately equal between patients with familial PD and those with sporadic PD. The PLA2G6 variants detected frequently were identified in the early-onset sporadic PD group. Patients who were homozygous for a variant showed more severe symptoms than those who were heterozygous for the variant. The most common variant was p.R635Q in our cohort, which was considered a risk variant for PD. Thus, the variants of PLA2G6 may play a role in familial PD and early-onset sporadic PD.

KW - Genetics

KW - Heterozygote variants

KW - MIBG myocardial scintigraphy

KW - PLA2G6

KW - Parkinson's disease

UR - http://www.scopus.com/inward/record.url?scp=85089147565&partnerID=8YFLogxK

U2 - 10.1016/j.neurobiolaging.2020.07.004

DO - 10.1016/j.neurobiolaging.2020.07.004

M3 - 学術論文

C2 - 32771225

AN - SCOPUS:85089147565

SN - 0197-4580

VL - 97

SP - 147.e1-147.e9

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Fingerprint

Cite this