A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population
Identification of mutations in patients with amyotrophic lateral sclerosis (ALS) in a genome-wide association study can reveal possible biomarkers of such a rapidly progressive and fatal neurodegenerative disease. It was observed that significant single nucleotide polymorphisms vary when the tested...
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| Veröffentlicht in: | Biomarkers in medicine 2016-06, Vol.10 (6), p.597-611 |
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| creator | Chen, Chi-Jim Chen, Chien-Ming Pai, Tun-Wen Chang, Hao-Teng Hwang, Chi-Shin |
| description | Identification of mutations in patients with amyotrophic lateral sclerosis (ALS) in a genome-wide association study can reveal possible biomarkers of such a rapidly progressive and fatal neurodegenerative disease. It was observed that significant single nucleotide polymorphisms vary when the tested population changes from one ethnic group to another. To identify new loci associated with ALS susceptibility in the Taiwanese Han population, we performed a genome-wide association study on 94 patients with sporadic ALS and 376 matched controls. We uncovered two new susceptibility loci at 13q14.3 (rs2785946) and 11q25 (rs11224052). In addition, we analyzed the functions of all the associated genes among 54 significant single nucleotide polymorphisms using Gene Ontology annotations, and the results showed several statistically significant neural- and muscle-related Gene Ontology terms and the associated diseases. |
| doi_str_mv | 10.2217/bmm.15.115 |
| format | Article |
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It was observed that significant single nucleotide polymorphisms vary when the tested population changes from one ethnic group to another. To identify new loci associated with ALS susceptibility in the Taiwanese Han population, we performed a genome-wide association study on 94 patients with sporadic ALS and 376 matched controls. We uncovered two new susceptibility loci at 13q14.3 (rs2785946) and 11q25 (rs11224052). In addition, we analyzed the functions of all the associated genes among 54 significant single nucleotide polymorphisms using Gene Ontology annotations, and the results showed several statistically significant neural- and muscle-related Gene Ontology terms and the associated diseases.</description><identifier>ISSN: 1752-0363</identifier><identifier>EISSN: 1752-0371</identifier><identifier>DOI: 10.2217/bmm.15.115</identifier><identifier>PMID: 26580837</identifier><language>eng</language><publisher>England: Future Medicine Ltd</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - diagnosis ; Amyotrophic Lateral Sclerosis - genetics ; Annotations ; Asian Continental Ancestry Group - genetics ; Biomarkers - metabolism ; Case-Control Studies ; Chromosome 13 ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 13 ; Female ; Gene Ontology ; Genes ; genetic biomarker ; Genetic Loci ; Genome, Human ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Genotype ; Haplotypes ; Humans ; Male ; Middle Aged ; Minority & ethnic groups ; neurodegenerative disease ; Neurodegenerative diseases ; Neuromuscular diseases ; Ontology ; Polymorphism, Single Nucleotide ; Population ; Population changes ; Quality control ; Single-nucleotide polymorphism ; Statistical analysis ; Taiwan</subject><ispartof>Biomarkers in medicine, 2016-06, Vol.10 (6), p.597-611</ispartof><rights>Future Medicine Ltd</rights><rights>Copyright Future Medicine Ltd Jun 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c395t-8261fda7cc174489e63e3de18474b3aa10b2492b308aa90128c6a8117681a873</citedby><cites>FETCH-LOGICAL-c395t-8261fda7cc174489e63e3de18474b3aa10b2492b308aa90128c6a8117681a873</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26580837$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chen, Chi-Jim</creatorcontrib><creatorcontrib>Chen, Chien-Ming</creatorcontrib><creatorcontrib>Pai, Tun-Wen</creatorcontrib><creatorcontrib>Chang, Hao-Teng</creatorcontrib><creatorcontrib>Hwang, Chi-Shin</creatorcontrib><title>A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population</title><title>Biomarkers in medicine</title><addtitle>Biomark Med</addtitle><description>Identification of mutations in patients with amyotrophic lateral sclerosis (ALS) in a genome-wide association study can reveal possible biomarkers of such a rapidly progressive and fatal neurodegenerative disease. It was observed that significant single nucleotide polymorphisms vary when the tested population changes from one ethnic group to another. To identify new loci associated with ALS susceptibility in the Taiwanese Han population, we performed a genome-wide association study on 94 patients with sporadic ALS and 376 matched controls. We uncovered two new susceptibility loci at 13q14.3 (rs2785946) and 11q25 (rs11224052). In addition, we analyzed the functions of all the associated genes among 54 significant single nucleotide polymorphisms using Gene Ontology annotations, and the results showed several statistically significant neural- and muscle-related Gene Ontology terms and the associated diseases.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - diagnosis</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Annotations</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biomarkers - metabolism</subject><subject>Case-Control Studies</subject><subject>Chromosome 13</subject><subject>Chromosomes, Human, Pair 11</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Female</subject><subject>Gene Ontology</subject><subject>Genes</subject><subject>genetic biomarker</subject><subject>Genetic Loci</subject><subject>Genome, Human</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Minority & ethnic groups</subject><subject>neurodegenerative disease</subject><subject>Neurodegenerative diseases</subject><subject>Neuromuscular diseases</subject><subject>Ontology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Population changes</subject><subject>Quality control</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>Taiwan</subject><issn>1752-0363</issn><issn>1752-0371</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkctq3TAQhkVJyH3TByiCbErApxrJungZQnOBQDZnr8rynEbBtlzJJpy3j5KTZFEKXc0MfPPP5SfkK7AV56B_tMOwArkCkF_IEWjJKyY07H3mShyS45yfGJNaK35ADrmShhmhj8ivS_obxzhg9Rw6pC7n6IObQxxpnpduS0vihm2cU5weg6e9mzG5nmbfY4o5ZBpGOj8iXbvw7EbMSG_dSKc4Lf2bzCnZ37g-49l7PCHr65_rq9vq_uHm7uryvvKikXNluIJN57T3oOvaNKgEig7B1LpuhXPAWl43vBXMONcw4MYrZwC0MuCMFifk-052SvHPgnm2Q8ge-77sFJdsodyrjKxB_h_VjTSyAVUX9Pwv9CkuaSx3WC4Zh4aZWhXqYkf58pGccGOnFAaXthaYfXXIFocsSAtv07-9Sy7tgN0n-mFJAdQO2CzzkjD7gKNHu6tKR_BhxH8pvwCugZ2p</recordid><startdate>20160601</startdate><enddate>20160601</enddate><creator>Chen, Chi-Jim</creator><creator>Chen, Chien-Ming</creator><creator>Pai, Tun-Wen</creator><creator>Chang, Hao-Teng</creator><creator>Hwang, Chi-Shin</creator><general>Future Medicine Ltd</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>EHMNL</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope></search><sort><creationdate>20160601</creationdate><title>A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population</title><author>Chen, Chi-Jim ; Chen, Chien-Ming ; Pai, Tun-Wen ; Chang, Hao-Teng ; Hwang, Chi-Shin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c395t-8261fda7cc174489e63e3de18474b3aa10b2492b308aa90128c6a8117681a873</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - diagnosis</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Annotations</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biomarkers - metabolism</topic><topic>Case-Control Studies</topic><topic>Chromosome 13</topic><topic>Chromosomes, Human, Pair 11</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Female</topic><topic>Gene Ontology</topic><topic>Genes</topic><topic>genetic biomarker</topic><topic>Genetic Loci</topic><topic>Genome, Human</topic><topic>Genome-wide association studies</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Minority & ethnic groups</topic><topic>neurodegenerative disease</topic><topic>Neurodegenerative diseases</topic><topic>Neuromuscular diseases</topic><topic>Ontology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population</topic><topic>Population changes</topic><topic>Quality control</topic><topic>Single-nucleotide polymorphism</topic><topic>Statistical analysis</topic><topic>Taiwan</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, Chi-Jim</creatorcontrib><creatorcontrib>Chen, Chien-Ming</creatorcontrib><creatorcontrib>Pai, Tun-Wen</creatorcontrib><creatorcontrib>Chang, Hao-Teng</creatorcontrib><creatorcontrib>Hwang, Chi-Shin</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Health and Medical</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>UK & Ireland Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Biological Science Journals</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><jtitle>Biomarkers in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, Chi-Jim</au><au>Chen, Chien-Ming</au><au>Pai, Tun-Wen</au><au>Chang, Hao-Teng</au><au>Hwang, Chi-Shin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population</atitle><jtitle>Biomarkers in medicine</jtitle><addtitle>Biomark Med</addtitle><date>2016-06-01</date><risdate>2016</risdate><volume>10</volume><issue>6</issue><spage>597</spage><epage>611</epage><pages>597-611</pages><issn>1752-0363</issn><eissn>1752-0371</eissn><abstract>Identification of mutations in patients with amyotrophic lateral sclerosis (ALS) in a genome-wide association study can reveal possible biomarkers of such a rapidly progressive and fatal neurodegenerative disease. It was observed that significant single nucleotide polymorphisms vary when the tested population changes from one ethnic group to another. To identify new loci associated with ALS susceptibility in the Taiwanese Han population, we performed a genome-wide association study on 94 patients with sporadic ALS and 376 matched controls. We uncovered two new susceptibility loci at 13q14.3 (rs2785946) and 11q25 (rs11224052). In addition, we analyzed the functions of all the associated genes among 54 significant single nucleotide polymorphisms using Gene Ontology annotations, and the results showed several statistically significant neural- and muscle-related Gene Ontology terms and the associated diseases.</abstract><cop>England</cop><pub>Future Medicine Ltd</pub><pmid>26580837</pmid><doi>10.2217/bmm.15.115</doi><tpages>15</tpages></addata></record> |
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| subjects | Adult Aged Aged, 80 and over Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - diagnosis Amyotrophic Lateral Sclerosis - genetics Annotations Asian Continental Ancestry Group - genetics Biomarkers - metabolism Case-Control Studies Chromosome 13 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 13 Female Gene Ontology Genes genetic biomarker Genetic Loci Genome, Human Genome-wide association studies Genome-Wide Association Study Genomes Genotype Haplotypes Humans Male Middle Aged Minority & ethnic groups neurodegenerative disease Neurodegenerative diseases Neuromuscular diseases Ontology Polymorphism, Single Nucleotide Population Population changes Quality control Single-nucleotide polymorphism Statistical analysis Taiwan |
| title | A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population |
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