Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease

Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD,...
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Autor*in:	Shomi Oka [verfasserIn] Takashi Higuchi [verfasserIn] Hiroshi Furukawa [verfasserIn] Kota Shimada [verfasserIn] Atsushi Hashimoto [verfasserIn] Akiko Komiya [verfasserIn] Toshihiro Matsui [verfasserIn] Naoshi Fukui [verfasserIn] Eiichi Suematsu [verfasserIn] Shigeru Ohno [verfasserIn] Hajime Kono [verfasserIn] Masao Katayama [verfasserIn] Shouhei Nagaoka [verfasserIn] Kiyoshi Migita [verfasserIn] Shigeto Tohma [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Übergeordnetes Werk:	In: Scientific Reports - Nature Portfolio, 2011, 12(2022), 1, Seite 9
Übergeordnetes Werk:	volume:12 ; year:2022 ; number:1 ; pages:9

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1038/s41598-022-14116-x

Katalog-ID:	DOAJ043328148

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520			\|a Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients.
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allfields	10.1038/s41598-022-14116-x doi (DE-627)DOAJ043328148 (DE-599)DOAJ27f6456424f146ffae89b214d1954ff4 DE-627 ger DE-627 rakwb eng Shomi Oka verfasserin aut Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients. Medicine R Science Q Takashi Higuchi verfasserin aut Hiroshi Furukawa verfasserin aut Kota Shimada verfasserin aut Atsushi Hashimoto verfasserin aut Akiko Komiya verfasserin aut Toshihiro Matsui verfasserin aut Naoshi Fukui verfasserin aut Eiichi Suematsu verfasserin aut Shigeru Ohno verfasserin aut Hajime Kono verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Kiyoshi Migita verfasserin aut Shigeto Tohma verfasserin aut In Scientific Reports Nature Portfolio, 2011 12(2022), 1, Seite 9 (DE-627)663366712 (DE-600)2615211-3 20452322 nnns volume:12 year:2022 number:1 pages:9 https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 kostenfrei https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/toc/2045-2322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_381 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 1 9
spelling	10.1038/s41598-022-14116-x doi (DE-627)DOAJ043328148 (DE-599)DOAJ27f6456424f146ffae89b214d1954ff4 DE-627 ger DE-627 rakwb eng Shomi Oka verfasserin aut Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients. Medicine R Science Q Takashi Higuchi verfasserin aut Hiroshi Furukawa verfasserin aut Kota Shimada verfasserin aut Atsushi Hashimoto verfasserin aut Akiko Komiya verfasserin aut Toshihiro Matsui verfasserin aut Naoshi Fukui verfasserin aut Eiichi Suematsu verfasserin aut Shigeru Ohno verfasserin aut Hajime Kono verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Kiyoshi Migita verfasserin aut Shigeto Tohma verfasserin aut In Scientific Reports Nature Portfolio, 2011 12(2022), 1, Seite 9 (DE-627)663366712 (DE-600)2615211-3 20452322 nnns volume:12 year:2022 number:1 pages:9 https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 kostenfrei https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/toc/2045-2322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_381 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 1 9
allfields_unstemmed	10.1038/s41598-022-14116-x doi (DE-627)DOAJ043328148 (DE-599)DOAJ27f6456424f146ffae89b214d1954ff4 DE-627 ger DE-627 rakwb eng Shomi Oka verfasserin aut Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients. Medicine R Science Q Takashi Higuchi verfasserin aut Hiroshi Furukawa verfasserin aut Kota Shimada verfasserin aut Atsushi Hashimoto verfasserin aut Akiko Komiya verfasserin aut Toshihiro Matsui verfasserin aut Naoshi Fukui verfasserin aut Eiichi Suematsu verfasserin aut Shigeru Ohno verfasserin aut Hajime Kono verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Kiyoshi Migita verfasserin aut Shigeto Tohma verfasserin aut In Scientific Reports Nature Portfolio, 2011 12(2022), 1, Seite 9 (DE-627)663366712 (DE-600)2615211-3 20452322 nnns volume:12 year:2022 number:1 pages:9 https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 kostenfrei https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/toc/2045-2322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_381 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 1 9
allfieldsGer	10.1038/s41598-022-14116-x doi (DE-627)DOAJ043328148 (DE-599)DOAJ27f6456424f146ffae89b214d1954ff4 DE-627 ger DE-627 rakwb eng Shomi Oka verfasserin aut Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients. Medicine R Science Q Takashi Higuchi verfasserin aut Hiroshi Furukawa verfasserin aut Kota Shimada verfasserin aut Atsushi Hashimoto verfasserin aut Akiko Komiya verfasserin aut Toshihiro Matsui verfasserin aut Naoshi Fukui verfasserin aut Eiichi Suematsu verfasserin aut Shigeru Ohno verfasserin aut Hajime Kono verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Kiyoshi Migita verfasserin aut Shigeto Tohma verfasserin aut In Scientific Reports Nature Portfolio, 2011 12(2022), 1, Seite 9 (DE-627)663366712 (DE-600)2615211-3 20452322 nnns volume:12 year:2022 number:1 pages:9 https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 kostenfrei https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/toc/2045-2322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_381 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 1 9
allfieldsSound	10.1038/s41598-022-14116-x doi (DE-627)DOAJ043328148 (DE-599)DOAJ27f6456424f146ffae89b214d1954ff4 DE-627 ger DE-627 rakwb eng Shomi Oka verfasserin aut Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients. Medicine R Science Q Takashi Higuchi verfasserin aut Hiroshi Furukawa verfasserin aut Kota Shimada verfasserin aut Atsushi Hashimoto verfasserin aut Akiko Komiya verfasserin aut Toshihiro Matsui verfasserin aut Naoshi Fukui verfasserin aut Eiichi Suematsu verfasserin aut Shigeru Ohno verfasserin aut Hajime Kono verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Kiyoshi Migita verfasserin aut Shigeto Tohma verfasserin aut In Scientific Reports Nature Portfolio, 2011 12(2022), 1, Seite 9 (DE-627)663366712 (DE-600)2615211-3 20452322 nnns volume:12 year:2022 number:1 pages:9 https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 kostenfrei https://doi.org/10.1038/s41598-022-14116-x kostenfrei https://doaj.org/toc/2045-2322 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_381 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 1 9
language	English
source	In Scientific Reports 12(2022), 1, Seite 9 volume:12 year:2022 number:1 pages:9
sourceStr	In Scientific Reports 12(2022), 1, Seite 9 volume:12 year:2022 number:1 pages:9
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Medicine R Science Q
isfreeaccess_bool	true
container_title	Scientific Reports
authorswithroles_txt_mv	Shomi Oka @@aut@@ Takashi Higuchi @@aut@@ Hiroshi Furukawa @@aut@@ Kota Shimada @@aut@@ Atsushi Hashimoto @@aut@@ Akiko Komiya @@aut@@ Toshihiro Matsui @@aut@@ Naoshi Fukui @@aut@@ Eiichi Suematsu @@aut@@ Shigeru Ohno @@aut@@ Hajime Kono @@aut@@ Masao Katayama @@aut@@ Shouhei Nagaoka @@aut@@ Kiyoshi Migita @@aut@@ Shigeto Tohma @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	663366712
id	DOAJ043328148
language_de	englisch
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author	Shomi Oka
spellingShingle	Shomi Oka misc Medicine misc R misc Science misc Q Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
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topic_title	Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
topic	misc Medicine misc R misc Science misc Q
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title	Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
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title_full	Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
author_sort	Shomi Oka
journal	Scientific Reports
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author_browse	Shomi Oka Takashi Higuchi Hiroshi Furukawa Kota Shimada Atsushi Hashimoto Akiko Komiya Toshihiro Matsui Naoshi Fukui Eiichi Suematsu Shigeru Ohno Hajime Kono Masao Katayama Shouhei Nagaoka Kiyoshi Migita Shigeto Tohma
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author-letter	Shomi Oka
doi_str_mv	10.1038/s41598-022-14116-x
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title_sort	predisposition of hla-drb104:01/15 heterozygous genotypes to japanese mixed connective tissue disease
title_auth	Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
abstract	Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients.
abstractGer	Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients.
abstract_unstemmed	Abstract Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease characterized by the production of anti-U1 ribonucleoprotein antibodies and systemic symptoms similar to those of some other autoimmune diseases. HLA-DRB1 polymorphisms are important genetic risk factors for MCTD, but precise associations of DRB1 genotypes with MCTD have not been reported in Japanese people. Genotyping of HLA-DRB1 and -DQB1 was performed in Japanese MCTD patients (n = 116) and controls (n = 413). Associations of specific allele carriers and genotype frequencies with MCTD were analyzed.The following alleles were found to be associated with predisposition to MCTD: HLA-DRB104:01 (P = 8.66 × 10–6, Pc = 0.0003, odds ratio [OR] 7.96, 95% confidence interval [CI] 3.13‒20.24) and DRB109:01 (P = 0.0189, Pc = 0.5468, OR 1.73, 95% CI 1.12‒2.67). In contrast, the carrier frequency of the DRB113:02 allele (P = 0.0032, Pc = 0.0929, OR 0.28, 95% CI 0.11‒0.72) was lower in MCTD patients than in controls. The frequencies of heterozygosity for HLA-DRB104:01/15 (P = 1.88 × 10–7, OR 81.54, 95% CI 4.74‒1402.63) and DRB109:01/15 (P = 0.0061, OR 2.94, 95% CI 1.38‒6.25) were also higher in MCTD patients. Haplotype and logistic regression analyses suggested a predisposing role for HLA-DRB104:01, DQB103:03, and a protective role for DRB113:02. Increased frequencies of HLA-DRB104:01/15 and DRB109:01/15 heterozygous genotypes were found in Japanese MCTD patients.
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title_short	Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease
url	https://doi.org/10.1038/s41598-022-14116-x https://doaj.org/article/27f6456424f146ffae89b214d1954ff4 https://doaj.org/toc/2045-2322
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author2	Takashi Higuchi Hiroshi Furukawa Kota Shimada Atsushi Hashimoto Akiko Komiya Toshihiro Matsui Naoshi Fukui Eiichi Suematsu Shigeru Ohno Hajime Kono Masao Katayama Shouhei Nagaoka Kiyoshi Migita Shigeto Tohma
author2Str	Takashi Higuchi Hiroshi Furukawa Kota Shimada Atsushi Hashimoto Akiko Komiya Toshihiro Matsui Naoshi Fukui Eiichi Suematsu Shigeru Ohno Hajime Kono Masao Katayama Shouhei Nagaoka Kiyoshi Migita Shigeto Tohma
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Predisposition of HLA-DRB1*04:01/*15 heterozygous genotypes to Japanese mixed connective tissue disease

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Predisposition of HLA-DRB104:01/15 heterozygous genotypes to Japanese mixed connective tissue disease