HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data

Abstract HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype–phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB1*04:05, DR...

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Autores principales:	Mitsuru Watanabe, Yuri Nakamura, Shinya Sato, Masaaki Niino, Hikoaki Fukaura, Masami Tanaka, Hirofumi Ochi, Takashi Kanda, Yukio Takeshita, Takanori Yokota, Yoichiro Nishida, Makoto Matsui, Shigemi Nagayama, Susumu Kusunoki, Katsuichi Miyamoto, Masanori Mizuno, Izumi Kawachi, Etsuji Saji, Takashi Ohashi, Shun Shimohama, Shin Hisahara, Kazutoshi Nishiyama, Takahiro Iizuka, Yuji Nakatsuji, Tatsusada Okuno, Kazuhide Ochi, Akio Suzumura, Ken Yamamoto, Yuji Kawano, Shoji Tsuji, Makoto Hirata, Ryuichi Sakate, Tomonori Kimura, Yuko Shimizu, Akiko Nagaishi, Kazumasa Okada, Fumie Hayashi, Ayako Sakoda, Katsuhisa Masaki, Koji Shinoda, Noriko Isobe, Takuya Matsushita, Jun-ichi Kira
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/67db0d0897834f4e92a7985435c2ebfc
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spelling	oai:doaj.org-article:67db0d0897834f4e92a7985435c2ebfc2021-12-02T15:22:56ZHLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data10.1038/s41598-020-79833-72045-2322https://doaj.org/article/67db0d0897834f4e92a7985435c2ebfc2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-79833-7https://doaj.org/toc/2045-2322Abstract HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype–phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB104:05, DRB115:01 and DPB103:01 correlated with MS susceptibility and DRB101:01, DRB109:01, DRB113:02 and DPB104:01 were protective against MS. HLA-DRB115:01 was associated with increased optic neuritis and cerebellar involvement and worsened visual and pyramidal functional scale (FS) scores, resulting in higher progression index values. HLA-DRB104:05 was associated with younger onset age, high visual FS scores, and a high tendency to develop optic neuritis. HLA-DPB103:01 increased brainstem and cerebellar FS scores. By contrast, HLA-DRB101:01 decreased spinal cord involvement and sensory FS scores, HLA-DRB109:01 decreased annualized relapse rate, brainstem involvement and bowel and bladder FS scores, and HLA-DRB113:02 decreased spinal cord and brainstem involvement. In NMOSD, HLA-DRB108:02 and DPB105:01 were associated with susceptibility and DRB109:01 was protective. Multivariable analysis revealed old onset age, long disease duration, and many relapses as independent disability risks in both MS and NMOSD, and HLA-DRB1*15:01 as an independent risk only in MS. Therefore, both susceptibility and protective alleles can influence the clinical manifestations in MS, while such genotype–phenotype correlations are unclear in NMOSD.Mitsuru WatanabeYuri NakamuraShinya SatoMasaaki NiinoHikoaki FukauraMasami TanakaHirofumi OchiTakashi KandaYukio TakeshitaTakanori YokotaYoichiro NishidaMakoto MatsuiShigemi NagayamaSusumu KusunokiKatsuichi MiyamotoMasanori MizunoIzumi KawachiEtsuji SajiTakashi OhashiShun ShimohamaShin HisaharaKazutoshi NishiyamaTakahiro IizukaYuji NakatsujiTatsusada OkunoKazuhide OchiAkio SuzumuraKen YamamotoYuji KawanoShoji TsujiMakoto HirataRyuichi SakateTomonori KimuraYuko ShimizuAkiko NagaishiKazumasa OkadaFumie HayashiAyako SakodaKatsuhisa MasakiKoji ShinodaNoriko IsobeTakuya MatsushitaJun-ichi KiraNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Mitsuru Watanabe Yuri Nakamura Shinya Sato Masaaki Niino Hikoaki Fukaura Masami Tanaka Hirofumi Ochi Takashi Kanda Yukio Takeshita Takanori Yokota Yoichiro Nishida Makoto Matsui Shigemi Nagayama Susumu Kusunoki Katsuichi Miyamoto Masanori Mizuno Izumi Kawachi Etsuji Saji Takashi Ohashi Shun Shimohama Shin Hisahara Kazutoshi Nishiyama Takahiro Iizuka Yuji Nakatsuji Tatsusada Okuno Kazuhide Ochi Akio Suzumura Ken Yamamoto Yuji Kawano Shoji Tsuji Makoto Hirata Ryuichi Sakate Tomonori Kimura Yuko Shimizu Akiko Nagaishi Kazumasa Okada Fumie Hayashi Ayako Sakoda Katsuhisa Masaki Koji Shinoda Noriko Isobe Takuya Matsushita Jun-ichi Kira HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
description	Abstract HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype–phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB104:05, DRB115:01 and DPB103:01 correlated with MS susceptibility and DRB101:01, DRB109:01, DRB113:02 and DPB104:01 were protective against MS. HLA-DRB115:01 was associated with increased optic neuritis and cerebellar involvement and worsened visual and pyramidal functional scale (FS) scores, resulting in higher progression index values. HLA-DRB104:05 was associated with younger onset age, high visual FS scores, and a high tendency to develop optic neuritis. HLA-DPB103:01 increased brainstem and cerebellar FS scores. By contrast, HLA-DRB101:01 decreased spinal cord involvement and sensory FS scores, HLA-DRB109:01 decreased annualized relapse rate, brainstem involvement and bowel and bladder FS scores, and HLA-DRB113:02 decreased spinal cord and brainstem involvement. In NMOSD, HLA-DRB108:02 and DPB105:01 were associated with susceptibility and DRB109:01 was protective. Multivariable analysis revealed old onset age, long disease duration, and many relapses as independent disability risks in both MS and NMOSD, and HLA-DRB1*15:01 as an independent risk only in MS. Therefore, both susceptibility and protective alleles can influence the clinical manifestations in MS, while such genotype–phenotype correlations are unclear in NMOSD.
format	article
author	Mitsuru Watanabe Yuri Nakamura Shinya Sato Masaaki Niino Hikoaki Fukaura Masami Tanaka Hirofumi Ochi Takashi Kanda Yukio Takeshita Takanori Yokota Yoichiro Nishida Makoto Matsui Shigemi Nagayama Susumu Kusunoki Katsuichi Miyamoto Masanori Mizuno Izumi Kawachi Etsuji Saji Takashi Ohashi Shun Shimohama Shin Hisahara Kazutoshi Nishiyama Takahiro Iizuka Yuji Nakatsuji Tatsusada Okuno Kazuhide Ochi Akio Suzumura Ken Yamamoto Yuji Kawano Shoji Tsuji Makoto Hirata Ryuichi Sakate Tomonori Kimura Yuko Shimizu Akiko Nagaishi Kazumasa Okada Fumie Hayashi Ayako Sakoda Katsuhisa Masaki Koji Shinoda Noriko Isobe Takuya Matsushita Jun-ichi Kira
author_facet	Mitsuru Watanabe Yuri Nakamura Shinya Sato Masaaki Niino Hikoaki Fukaura Masami Tanaka Hirofumi Ochi Takashi Kanda Yukio Takeshita Takanori Yokota Yoichiro Nishida Makoto Matsui Shigemi Nagayama Susumu Kusunoki Katsuichi Miyamoto Masanori Mizuno Izumi Kawachi Etsuji Saji Takashi Ohashi Shun Shimohama Shin Hisahara Kazutoshi Nishiyama Takahiro Iizuka Yuji Nakatsuji Tatsusada Okuno Kazuhide Ochi Akio Suzumura Ken Yamamoto Yuji Kawano Shoji Tsuji Makoto Hirata Ryuichi Sakate Tomonori Kimura Yuko Shimizu Akiko Nagaishi Kazumasa Okada Fumie Hayashi Ayako Sakoda Katsuhisa Masaki Koji Shinoda Noriko Isobe Takuya Matsushita Jun-ichi Kira
author_sort	Mitsuru Watanabe
title	HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
title_short	HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
title_full	HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
title_fullStr	HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
title_full_unstemmed	HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data
title_sort	hla genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on japan ms/nmosd biobank data
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/67db0d0897834f4e92a7985435c2ebfc
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HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data

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