HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort
Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268...
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| Veröffentlicht in: | Journal of the neurological sciences 2017-02, Vol.373, p.124-128 |
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| creator | Yang, Xinglong Zheng, JinHua Tian, Sijia Chen, Yalan An, Ran Zhao, Quanzhen Xu, Yanming |
| description | Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668).
We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P |
| doi_str_mv | 10.1016/j.jns.2016.12.055 |
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We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P<0.001). Kaplan-Meier curves and Cox analysis indicated significantly lower survival probability for patients carrying the AA genotype (P<0.001).
Our results suggest that the AA genotype at rs9268856 is an independent risk factor and prognostic factor for ALS in Han Chinese from southwest China.
•This is the first study to examine the association between four SNPs and ALS, PD.•The AA genotype at rs9268856 increased risk of ALS in our Southwest Chinese cohort.•AA genotype at rs9268856 is a prognostic factor in our Southwest Chinese cohort.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/j.jns.2016.12.055</identifier><identifier>PMID: 28131168</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - genetics ; Asian Continental Ancestry Group - genetics ; BTNL2 ; Butyrophilins - genetics ; Case-Control Studies ; Cathepsin C - genetics ; China ; Female ; Frontotemporal dementia ; Genetic Predisposition to Disease ; HLA-DR alpha-Chains - genetics ; HLA-DRA/HLA-DRB5 ; HLA-DRB5 Chains - genetics ; Humans ; Kaplan-Meier Estimate ; Kaplan-Meier survival curves ; Male ; Middle Aged ; Parkinson Disease - genetics ; Parkinson's disease ; Polymorphism, Single Nucleotide ; Proportional Hazards Models ; rab GTP-Binding Proteins - genetics ; RAB38/CTSC ; Retrospective Studies</subject><ispartof>Journal of the neurological sciences, 2017-02, Vol.373, p.124-128</ispartof><rights>2016 Elsevier B.V.</rights><rights>Copyright © 2016 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-871ce201f065220e610a6f24168112ac896a31c9745b45c89de791692df5bd733</citedby><cites>FETCH-LOGICAL-c419t-871ce201f065220e610a6f24168112ac896a31c9745b45c89de791692df5bd733</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jns.2016.12.055$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28131168$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yang, Xinglong</creatorcontrib><creatorcontrib>Zheng, JinHua</creatorcontrib><creatorcontrib>Tian, Sijia</creatorcontrib><creatorcontrib>Chen, Yalan</creatorcontrib><creatorcontrib>An, Ran</creatorcontrib><creatorcontrib>Zhao, Quanzhen</creatorcontrib><creatorcontrib>Xu, Yanming</creatorcontrib><title>HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668).
We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P<0.001). Kaplan-Meier curves and Cox analysis indicated significantly lower survival probability for patients carrying the AA genotype (P<0.001).
Our results suggest that the AA genotype at rs9268856 is an independent risk factor and prognostic factor for ALS in Han Chinese from southwest China.
•This is the first study to examine the association between four SNPs and ALS, PD.•The AA genotype at rs9268856 increased risk of ALS in our Southwest Chinese cohort.•AA genotype at rs9268856 is a prognostic factor in our Southwest Chinese cohort.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>BTNL2</subject><subject>Butyrophilins - genetics</subject><subject>Case-Control Studies</subject><subject>Cathepsin C - genetics</subject><subject>China</subject><subject>Female</subject><subject>Frontotemporal dementia</subject><subject>Genetic Predisposition to Disease</subject><subject>HLA-DR alpha-Chains - genetics</subject><subject>HLA-DRA/HLA-DRB5</subject><subject>HLA-DRB5 Chains - genetics</subject><subject>Humans</subject><subject>Kaplan-Meier Estimate</subject><subject>Kaplan-Meier survival curves</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Parkinson Disease - genetics</subject><subject>Parkinson's disease</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proportional Hazards Models</subject><subject>rab GTP-Binding Proteins - genetics</subject><subject>RAB38/CTSC</subject><subject>Retrospective Studies</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEFP3DAQhS1EBQvtD-il8pFLgseJHUecttsClVZCAir1ZnmdidZLEqd2shX_Hq-W9tjTm5HePL35CPkMLAcG8nqX74aY8zTmwHMmxAlZgKpUJpQqTsmCMc4zAezXObmIcccYk0rVZ-ScKygApFoQvF8vs2-Py-ujfhV09N1r78O4dbGnpm3RTpEGF1-ob2kcfTCNs3S5fqJmaGicw97tTUfdQA2Nfp62fzBOdLV1A0ak1m99mD6SD63pIn5610vy8_b78-o-Wz_c_Vgt15ktoZ4yVYHF9E7LpOCcoQRmZMvL1BSAG6tqaQqwdVWKTSnS2mBVg6x504pNUxXFJbk65o7B_55TD927aLHrzIB-jhqU5HVZqPJghaPVBh9jwFaPwfUmvGpg-kBX73Siqw90NXCd6KabL-_x86bH5t_FX5zJcHM0YHpy7zDoaB0OFhsXEkfdePef-DcI84h1</recordid><startdate>20170215</startdate><enddate>20170215</enddate><creator>Yang, Xinglong</creator><creator>Zheng, JinHua</creator><creator>Tian, Sijia</creator><creator>Chen, Yalan</creator><creator>An, Ran</creator><creator>Zhao, Quanzhen</creator><creator>Xu, Yanming</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20170215</creationdate><title>HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort</title><author>Yang, Xinglong ; Zheng, JinHua ; Tian, Sijia ; Chen, Yalan ; An, Ran ; Zhao, Quanzhen ; Xu, Yanming</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-871ce201f065220e610a6f24168112ac896a31c9745b45c89de791692df5bd733</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>BTNL2</topic><topic>Butyrophilins - genetics</topic><topic>Case-Control Studies</topic><topic>Cathepsin C - genetics</topic><topic>China</topic><topic>Female</topic><topic>Frontotemporal dementia</topic><topic>Genetic Predisposition to Disease</topic><topic>HLA-DR alpha-Chains - genetics</topic><topic>HLA-DRA/HLA-DRB5</topic><topic>HLA-DRB5 Chains - genetics</topic><topic>Humans</topic><topic>Kaplan-Meier Estimate</topic><topic>Kaplan-Meier survival curves</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Parkinson Disease - genetics</topic><topic>Parkinson's disease</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proportional Hazards Models</topic><topic>rab GTP-Binding Proteins - genetics</topic><topic>RAB38/CTSC</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, Xinglong</creatorcontrib><creatorcontrib>Zheng, JinHua</creatorcontrib><creatorcontrib>Tian, Sijia</creatorcontrib><creatorcontrib>Chen, Yalan</creatorcontrib><creatorcontrib>An, Ran</creatorcontrib><creatorcontrib>Zhao, Quanzhen</creatorcontrib><creatorcontrib>Xu, Yanming</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, Xinglong</au><au>Zheng, JinHua</au><au>Tian, Sijia</au><au>Chen, Yalan</au><au>An, Ran</au><au>Zhao, Quanzhen</au><au>Xu, Yanming</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>2017-02-15</date><risdate>2017</risdate><volume>373</volume><spage>124</spage><epage>128</epage><pages>124-128</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><abstract>Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668).
We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P<0.001). Kaplan-Meier curves and Cox analysis indicated significantly lower survival probability for patients carrying the AA genotype (P<0.001).
Our results suggest that the AA genotype at rs9268856 is an independent risk factor and prognostic factor for ALS in Han Chinese from southwest China.
•This is the first study to examine the association between four SNPs and ALS, PD.•The AA genotype at rs9268856 increased risk of ALS in our Southwest Chinese cohort.•AA genotype at rs9268856 is a prognostic factor in our Southwest Chinese cohort.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>28131168</pmid><doi>10.1016/j.jns.2016.12.055</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Aged Aged, 80 and over Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Asian Continental Ancestry Group - genetics BTNL2 Butyrophilins - genetics Case-Control Studies Cathepsin C - genetics China Female Frontotemporal dementia Genetic Predisposition to Disease HLA-DR alpha-Chains - genetics HLA-DRA/HLA-DRB5 HLA-DRB5 Chains - genetics Humans Kaplan-Meier Estimate Kaplan-Meier survival curves Male Middle Aged Parkinson Disease - genetics Parkinson's disease Polymorphism, Single Nucleotide Proportional Hazards Models rab GTP-Binding Proteins - genetics RAB38/CTSC Retrospective Studies |
| title | HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort |
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