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Genome-wide association study with the risk of schizophrenia in a Korean population
Schizophrenia is regarded as a multifactorial and polygenic brain disorder that is attributed to different combinations of genetic and environmental risk factors. Recently, several genome‐wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication res...
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Published in: | American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2016-03, Vol.171B (2), p.257-265 |
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creator | Kim, Lyoung Hyo Park, Byung Lae Cheong, Hyun Sub Namgoong, Suhg Kim, Ji On Kim, Jeong-Hyun Shin, Joong-Gon Park, Chul Soo Kim, Bong-Jo Kim, Jae Won Choi, Ihn-Geun Hwang, Jaeuk Shin, Hyoung Doo Woo, Sung-Il |
description | Schizophrenia is regarded as a multifactorial and polygenic brain disorder that is attributed to different combinations of genetic and environmental risk factors. Recently, several genome‐wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication results remain controversial and ambiguous. To identify schizophrenia susceptibility loci in the Korean population, we performed a GWAS using the Illumina HumanOmni1‐Quad V1.0 Microarray. We genotyped 1,140,419 single nucleotide polymorphisms (SNPs) in 350 Korea schizophrenia patients and 700 control subjects, and approximately 620,001 autosomal SNPs were passed our quality control. In the case–control analysis, the rs9607195 A>G on intergenic area 250 kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P = 6.2 × 10−8, OR = 0.50 and P = 3.7 × 10−7, OR = 2.39, respectively). In subsequent fine‐mapping analysis, 6 SNPs of MECR were genotyped with 310 schizophrenia patients and 604 control subjects. The association of the MECR rs12738007, a top ranked‐SNP in GWAS, was replicated (P = 1.5 × 10−2, OR = 1.53 in fine mapping analysis, P = 1.5 × 10−6, OR = 1.90 in combined analysis). The identification of putative schizophrenia susceptibility loci could provide new insights into genetic factors related with schizophrenia and clues for the development of diagnosis strategies. © 2015 Wiley Periodicals, Inc. |
doi_str_mv | 10.1002/ajmg.b.32400 |
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Recently, several genome‐wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication results remain controversial and ambiguous. To identify schizophrenia susceptibility loci in the Korean population, we performed a GWAS using the Illumina HumanOmni1‐Quad V1.0 Microarray. We genotyped 1,140,419 single nucleotide polymorphisms (SNPs) in 350 Korea schizophrenia patients and 700 control subjects, and approximately 620,001 autosomal SNPs were passed our quality control. In the case–control analysis, the rs9607195 A>G on intergenic area 250 kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P = 6.2 × 10−8, OR = 0.50 and P = 3.7 × 10−7, OR = 2.39, respectively). In subsequent fine‐mapping analysis, 6 SNPs of MECR were genotyped with 310 schizophrenia patients and 604 control subjects. The association of the MECR rs12738007, a top ranked‐SNP in GWAS, was replicated (P = 1.5 × 10−2, OR = 1.53 in fine mapping analysis, P = 1.5 × 10−6, OR = 1.90 in combined analysis). The identification of putative schizophrenia susceptibility loci could provide new insights into genetic factors related with schizophrenia and clues for the development of diagnosis strategies. © 2015 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4841</identifier><identifier>EISSN: 1552-485X</identifier><identifier>DOI: 10.1002/ajmg.b.32400</identifier><identifier>PMID: 26531332</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adult ; Asian Continental Ancestry Group - genetics ; Case-Control Studies ; Computer Simulation ; Female ; Genetic Predisposition to Disease ; Genetics ; Genome-Wide Association Study ; Humans ; Introns - genetics ; Male ; MECR ; Middle Aged ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide - genetics ; Republic of Korea ; Risk Factors ; schizophrenia ; Schizophrenia - genetics ; single nucleotide polymorphism</subject><ispartof>American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-03, Vol.171B (2), p.257-265</ispartof><rights>2015 Wiley Periodicals, Inc.</rights><rights>2016 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5050-350c136bfe2bfad3cc6444705985c36d5e2069a2e07bef22878a6e21aff592463</citedby><cites>FETCH-LOGICAL-c5050-350c136bfe2bfad3cc6444705985c36d5e2069a2e07bef22878a6e21aff592463</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,783,787,27936,27937</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26531332$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Lyoung Hyo</creatorcontrib><creatorcontrib>Park, Byung Lae</creatorcontrib><creatorcontrib>Cheong, Hyun Sub</creatorcontrib><creatorcontrib>Namgoong, Suhg</creatorcontrib><creatorcontrib>Kim, Ji On</creatorcontrib><creatorcontrib>Kim, Jeong-Hyun</creatorcontrib><creatorcontrib>Shin, Joong-Gon</creatorcontrib><creatorcontrib>Park, Chul Soo</creatorcontrib><creatorcontrib>Kim, Bong-Jo</creatorcontrib><creatorcontrib>Kim, Jae Won</creatorcontrib><creatorcontrib>Choi, Ihn-Geun</creatorcontrib><creatorcontrib>Hwang, Jaeuk</creatorcontrib><creatorcontrib>Shin, Hyoung Doo</creatorcontrib><creatorcontrib>Woo, Sung-Il</creatorcontrib><title>Genome-wide association study with the risk of schizophrenia in a Korean population</title><title>American journal of medical genetics. Part B, Neuropsychiatric genetics</title><addtitle>Am. J. Med. Genet.</addtitle><description>Schizophrenia is regarded as a multifactorial and polygenic brain disorder that is attributed to different combinations of genetic and environmental risk factors. Recently, several genome‐wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication results remain controversial and ambiguous. To identify schizophrenia susceptibility loci in the Korean population, we performed a GWAS using the Illumina HumanOmni1‐Quad V1.0 Microarray. We genotyped 1,140,419 single nucleotide polymorphisms (SNPs) in 350 Korea schizophrenia patients and 700 control subjects, and approximately 620,001 autosomal SNPs were passed our quality control. In the case–control analysis, the rs9607195 A>G on intergenic area 250 kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P = 6.2 × 10−8, OR = 0.50 and P = 3.7 × 10−7, OR = 2.39, respectively). In subsequent fine‐mapping analysis, 6 SNPs of MECR were genotyped with 310 schizophrenia patients and 604 control subjects. The association of the MECR rs12738007, a top ranked‐SNP in GWAS, was replicated (P = 1.5 × 10−2, OR = 1.53 in fine mapping analysis, P = 1.5 × 10−6, OR = 1.90 in combined analysis). The identification of putative schizophrenia susceptibility loci could provide new insights into genetic factors related with schizophrenia and clues for the development of diagnosis strategies. © 2015 Wiley Periodicals, Inc.</description><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Case-Control Studies</subject><subject>Computer Simulation</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>Introns - genetics</subject><subject>Male</subject><subject>MECR</subject><subject>Middle Aged</subject><subject>Physical Chromosome Mapping</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Republic of Korea</subject><subject>Risk Factors</subject><subject>schizophrenia</subject><subject>Schizophrenia - genetics</subject><subject>single nucleotide polymorphism</subject><issn>1552-4841</issn><issn>1552-485X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNqN0c1v0zAYBnALgdgo3DgjS1x2IMXfTo7rBAU24LDycbMc5w11l8TBTlTKX0_Wbj1wQJz8Hn7PI1kPQs8pmVNC2Gu7aX_MyzlngpAH6JRKyTKRy-8Pj7egJ-hJShtCOJFaP0YnTElOOWen6HoJXWgh2_oKsE0pOG8HHzqchrHa4a0f1nhYA44-3eBQ4-TW_nfo1xE6b7HvsMWXIYLtcB_6sdlnn6JHtW0SPLt7Z-jL2zeri3fZ1efl-4vzq8xJIknGJXGUq7IGVta24s4pIYQmssil46qSwIgqLAOiS6gZy3VuFTBq61oWTCg-Q2eH3j6GnyOkwbQ-OWga20EYk6FaKyUkL_L_oGrqpGLSM_TyL7oJY-ymj-wVU6QgelKvDsrFkFKE2vTRtzbuDCXmdhdzu4spzX6Xib-4Kx3LFqojvh9iAuIAtr6B3T_LzPmHj8vFfW92iPk0wK9jzMYbozTX0nz7tDTX6nJRrBYr85X_Aaclp1g</recordid><startdate>201603</startdate><enddate>201603</enddate><creator>Kim, Lyoung Hyo</creator><creator>Park, Byung Lae</creator><creator>Cheong, Hyun Sub</creator><creator>Namgoong, Suhg</creator><creator>Kim, Ji On</creator><creator>Kim, Jeong-Hyun</creator><creator>Shin, Joong-Gon</creator><creator>Park, Chul Soo</creator><creator>Kim, Bong-Jo</creator><creator>Kim, Jae Won</creator><creator>Choi, Ihn-Geun</creator><creator>Hwang, Jaeuk</creator><creator>Shin, Hyoung Doo</creator><creator>Woo, Sung-Il</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201603</creationdate><title>Genome-wide association study with the risk of schizophrenia in a Korean population</title><author>Kim, Lyoung Hyo ; Park, Byung Lae ; Cheong, Hyun Sub ; Namgoong, Suhg ; Kim, Ji On ; Kim, Jeong-Hyun ; Shin, Joong-Gon ; Park, Chul Soo ; Kim, Bong-Jo ; Kim, Jae Won ; Choi, Ihn-Geun ; Hwang, Jaeuk ; Shin, Hyoung Doo ; Woo, Sung-Il</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5050-350c136bfe2bfad3cc6444705985c36d5e2069a2e07bef22878a6e21aff592463</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Case-Control Studies</topic><topic>Computer Simulation</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics</topic><topic>Genome-Wide Association Study</topic><topic>Humans</topic><topic>Introns - genetics</topic><topic>Male</topic><topic>MECR</topic><topic>Middle Aged</topic><topic>Physical Chromosome Mapping</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Republic of Korea</topic><topic>Risk Factors</topic><topic>schizophrenia</topic><topic>Schizophrenia - genetics</topic><topic>single nucleotide polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Lyoung Hyo</creatorcontrib><creatorcontrib>Park, Byung Lae</creatorcontrib><creatorcontrib>Cheong, Hyun Sub</creatorcontrib><creatorcontrib>Namgoong, Suhg</creatorcontrib><creatorcontrib>Kim, Ji On</creatorcontrib><creatorcontrib>Kim, Jeong-Hyun</creatorcontrib><creatorcontrib>Shin, Joong-Gon</creatorcontrib><creatorcontrib>Park, Chul Soo</creatorcontrib><creatorcontrib>Kim, Bong-Jo</creatorcontrib><creatorcontrib>Kim, Jae Won</creatorcontrib><creatorcontrib>Choi, Ihn-Geun</creatorcontrib><creatorcontrib>Hwang, Jaeuk</creatorcontrib><creatorcontrib>Shin, Hyoung Doo</creatorcontrib><creatorcontrib>Woo, Sung-Il</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Lyoung Hyo</au><au>Park, Byung Lae</au><au>Cheong, Hyun Sub</au><au>Namgoong, Suhg</au><au>Kim, Ji On</au><au>Kim, Jeong-Hyun</au><au>Shin, Joong-Gon</au><au>Park, Chul Soo</au><au>Kim, Bong-Jo</au><au>Kim, Jae Won</au><au>Choi, Ihn-Geun</au><au>Hwang, Jaeuk</au><au>Shin, Hyoung Doo</au><au>Woo, Sung-Il</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-wide association study with the risk of schizophrenia in a Korean population</atitle><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle><addtitle>Am. J. Med. Genet.</addtitle><date>2016-03</date><risdate>2016</risdate><volume>171B</volume><issue>2</issue><spage>257</spage><epage>265</epage><pages>257-265</pages><issn>1552-4841</issn><eissn>1552-485X</eissn><abstract>Schizophrenia is regarded as a multifactorial and polygenic brain disorder that is attributed to different combinations of genetic and environmental risk factors. Recently, several genome‐wide association studies (GWASs) of schizophrenia have identified numerous risk factors, but the replication results remain controversial and ambiguous. To identify schizophrenia susceptibility loci in the Korean population, we performed a GWAS using the Illumina HumanOmni1‐Quad V1.0 Microarray. We genotyped 1,140,419 single nucleotide polymorphisms (SNPs) in 350 Korea schizophrenia patients and 700 control subjects, and approximately 620,001 autosomal SNPs were passed our quality control. In the case–control analysis, the rs9607195 A>G on intergenic area 250 kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P = 6.2 × 10−8, OR = 0.50 and P = 3.7 × 10−7, OR = 2.39, respectively). In subsequent fine‐mapping analysis, 6 SNPs of MECR were genotyped with 310 schizophrenia patients and 604 control subjects. The association of the MECR rs12738007, a top ranked‐SNP in GWAS, was replicated (P = 1.5 × 10−2, OR = 1.53 in fine mapping analysis, P = 1.5 × 10−6, OR = 1.90 in combined analysis). The identification of putative schizophrenia susceptibility loci could provide new insights into genetic factors related with schizophrenia and clues for the development of diagnosis strategies. © 2015 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>26531332</pmid><doi>10.1002/ajmg.b.32400</doi><tpages>9</tpages></addata></record> |
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subjects | Adult Asian Continental Ancestry Group - genetics Case-Control Studies Computer Simulation Female Genetic Predisposition to Disease Genetics Genome-Wide Association Study Humans Introns - genetics Male MECR Middle Aged Physical Chromosome Mapping Polymorphism, Single Nucleotide - genetics Republic of Korea Risk Factors schizophrenia Schizophrenia - genetics single nucleotide polymorphism |
title | Genome-wide association study with the risk of schizophrenia in a Korean population |
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