Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-ex...
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Autor*in:	Tan, Zhiping [verfasserIn] Zeng, Hui Xu, Zhaofa Tian, Qi Gao, Xiaoyang Zhou, Chuanman Zheng, Yu Wang, Jian Ling, Guanghui Wang, Bing Yang, Yifeng Ma, Long

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2018

Schlagwörter:	Ankylosing spondylitis Pedigree Ankyrin repeat

Anmerkung:	© The Author(s). 2018

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 19(2018), 1 vom: 05. Juli
Übergeordnetes Werk:	volume:19 ; year:2018 ; number:1 ; day:05 ; month:07

Links:	Volltext

DOI / URN:	10.1186/s12881-018-0622-9

Katalog-ID:	SPR027499359

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520			\|a Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association.
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allfields	10.1186/s12881-018-0622-9 doi (DE-627)SPR027499359 (SPR)s12881-018-0622-9-e DE-627 ger DE-627 rakwb eng Tan, Zhiping verfasserin aut Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213 Zeng, Hui aut Xu, Zhaofa aut Tian, Qi aut Gao, Xiaoyang aut Zhou, Chuanman aut Zheng, Yu aut Wang, Jian aut Ling, Guanghui aut Wang, Bing aut Yang, Yifeng aut Ma, Long (orcid)0000-0002-3925-9154 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 05. Juli (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:05 month:07 https://dx.doi.org/10.1186/s12881-018-0622-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 05 07
spelling	10.1186/s12881-018-0622-9 doi (DE-627)SPR027499359 (SPR)s12881-018-0622-9-e DE-627 ger DE-627 rakwb eng Tan, Zhiping verfasserin aut Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213 Zeng, Hui aut Xu, Zhaofa aut Tian, Qi aut Gao, Xiaoyang aut Zhou, Chuanman aut Zheng, Yu aut Wang, Jian aut Ling, Guanghui aut Wang, Bing aut Yang, Yifeng aut Ma, Long (orcid)0000-0002-3925-9154 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 05. Juli (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:05 month:07 https://dx.doi.org/10.1186/s12881-018-0622-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 05 07
allfields_unstemmed	10.1186/s12881-018-0622-9 doi (DE-627)SPR027499359 (SPR)s12881-018-0622-9-e DE-627 ger DE-627 rakwb eng Tan, Zhiping verfasserin aut Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213 Zeng, Hui aut Xu, Zhaofa aut Tian, Qi aut Gao, Xiaoyang aut Zhou, Chuanman aut Zheng, Yu aut Wang, Jian aut Ling, Guanghui aut Wang, Bing aut Yang, Yifeng aut Ma, Long (orcid)0000-0002-3925-9154 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 05. Juli (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:05 month:07 https://dx.doi.org/10.1186/s12881-018-0622-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 05 07
allfieldsGer	10.1186/s12881-018-0622-9 doi (DE-627)SPR027499359 (SPR)s12881-018-0622-9-e DE-627 ger DE-627 rakwb eng Tan, Zhiping verfasserin aut Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213 Zeng, Hui aut Xu, Zhaofa aut Tian, Qi aut Gao, Xiaoyang aut Zhou, Chuanman aut Zheng, Yu aut Wang, Jian aut Ling, Guanghui aut Wang, Bing aut Yang, Yifeng aut Ma, Long (orcid)0000-0002-3925-9154 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 05. Juli (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:05 month:07 https://dx.doi.org/10.1186/s12881-018-0622-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 05 07
allfieldsSound	10.1186/s12881-018-0622-9 doi (DE-627)SPR027499359 (SPR)s12881-018-0622-9-e DE-627 ger DE-627 rakwb eng Tan, Zhiping verfasserin aut Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2018 Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213 Zeng, Hui aut Xu, Zhaofa aut Tian, Qi aut Gao, Xiaoyang aut Zhou, Chuanman aut Zheng, Yu aut Wang, Jian aut Ling, Guanghui aut Wang, Bing aut Yang, Yifeng aut Ma, Long (orcid)0000-0002-3925-9154 aut Enthalten in BMC medical genetics London : BioMed Central, 2000 19(2018), 1 vom: 05. Juli (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:19 year:2018 number:1 day:05 month:07 https://dx.doi.org/10.1186/s12881-018-0622-9 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2018 1 05 07
language	English
source	Enthalten in BMC medical genetics 19(2018), 1 vom: 05. Juli volume:19 year:2018 number:1 day:05 month:07
sourceStr	Enthalten in BMC medical genetics 19(2018), 1 vom: 05. Juli volume:19 year:2018 number:1 day:05 month:07
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Ankylosing spondylitis Pedigree Ankyrin repeat
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Tan, Zhiping @@aut@@ Zeng, Hui @@aut@@ Xu, Zhaofa @@aut@@ Tian, Qi @@aut@@ Gao, Xiaoyang @@aut@@ Zhou, Chuanman @@aut@@ Zheng, Yu @@aut@@ Wang, Jian @@aut@@ Ling, Guanghui @@aut@@ Wang, Bing @@aut@@ Yang, Yifeng @@aut@@ Ma, Long @@aut@@
publishDateDaySort_date	2018-07-05T00:00:00Z
hierarchy_top_id	326643788
id	SPR027499359
language_de	englisch
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We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. 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author	Tan, Zhiping
spellingShingle	Tan, Zhiping misc Ankylosing spondylitis misc Pedigree misc Ankyrin repeat Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
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topic_title	Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient Ankylosing spondylitis (dpeaa)DE-He213 Pedigree (dpeaa)DE-He213 Ankyrin repeat (dpeaa)DE-He213
topic	misc Ankylosing spondylitis misc Pedigree misc Ankyrin repeat
topic_unstemmed	misc Ankylosing spondylitis misc Pedigree misc Ankyrin repeat
topic_browse	misc Ankylosing spondylitis misc Pedigree misc Ankyrin repeat
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title	Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
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title_full	Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
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author_browse	Tan, Zhiping Zeng, Hui Xu, Zhaofa Tian, Qi Gao, Xiaoyang Zhou, Chuanman Zheng, Yu Wang, Jian Ling, Guanghui Wang, Bing Yang, Yifeng Ma, Long
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title_sort	identification of ankdd1b variants in an ankylosing spondylitis pedigree and a sporadic patient
title_auth	Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
abstract	Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. © The Author(s). 2018
abstractGer	Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. © The Author(s). 2018
abstract_unstemmed	Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B27, 2p15, ERAP1 and IL23R, and found that only HLA-B27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association. © The Author(s). 2018
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title_short	Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient
url	https://dx.doi.org/10.1186/s12881-018-0622-9
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author2	Zeng, Hui Xu, Zhaofa Tian, Qi Gao, Xiaoyang Zhou, Chuanman Zheng, Yu Wang, Jian Ling, Guanghui Wang, Bing Yang, Yifeng Ma, Long
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up_date	2024-07-04T02:08:12.294Z
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Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

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