Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population
The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n=681), mild cognitive impairment (MCI, n=801), alcoho...
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| Veröffentlicht in: | Disease markers 2010, Vol.28 (5), p.315-321 |
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| creator | Choi, Ihn-Geun Woo, Sung-Il Kim, Ho Jin Kim, Dai-Jin Park, Byung Lae Cheong, Hyun Sub Pasaje, Charisse Flerida A Park, Tae Joon Bae, Joon Seol Chai, Young Gyu Shin, Hyoung Doo |
| description | The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n=681), mild cognitive impairment (MCI, n=801), alcoholism (n=761) and schizophrenia (n=715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency of PRNP*129Val (MAF =0.025) was significantly lower in Korean population (n=2,479) compared to Caucasian populations (P < 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association between PRNP*129Val and MS (P= 0.76), MCI (P=0.46), alcoholism (P=0.84) and schizophrenia (P =0.69). These findings were discussed in the context of prior inconsistent reports on the role of PRNP*129Val polymorphism in several diseases. Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population. |
| doi_str_mv | 10.3233/DMA-2010-0711 |
| format | Article |
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In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n=681), mild cognitive impairment (MCI, n=801), alcoholism (n=761) and schizophrenia (n=715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency of PRNP*129Val (MAF =0.025) was significantly lower in Korean population (n=2,479) compared to Caucasian populations (P < 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association between PRNP*129Val and MS (P= 0.76), MCI (P=0.46), alcoholism (P=0.84) and schizophrenia (P =0.69). These findings were discussed in the context of prior inconsistent reports on the role of PRNP*129Val polymorphism in several diseases. Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.</description><identifier>ISSN: 0278-0240</identifier><identifier>EISSN: 1875-8630</identifier><identifier>DOI: 10.3233/DMA-2010-0711</identifier><identifier>PMID: 20592456</identifier><language>eng</language><publisher>United States: IOS Press</publisher><subject>Aged ; Alcoholism - genetics ; Case-Control Studies ; Cognition Disorders - genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Multiple Sclerosis - genetics ; Other ; Polymerase Chain Reaction ; Polymorphism, Genetic - genetics ; Prion Proteins ; Prions - genetics ; Risk Factors ; Schizophrenia - genetics</subject><ispartof>Disease markers, 2010, Vol.28 (5), p.315-321</ispartof><rights>Copyright © 2010 Hindawi Publishing Corporation. 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833710/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833710/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,4022,27922,27923,27924,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20592456$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Choi, Ihn-Geun</creatorcontrib><creatorcontrib>Woo, Sung-Il</creatorcontrib><creatorcontrib>Kim, Ho Jin</creatorcontrib><creatorcontrib>Kim, Dai-Jin</creatorcontrib><creatorcontrib>Park, Byung Lae</creatorcontrib><creatorcontrib>Cheong, Hyun Sub</creatorcontrib><creatorcontrib>Pasaje, Charisse Flerida A</creatorcontrib><creatorcontrib>Park, Tae Joon</creatorcontrib><creatorcontrib>Bae, Joon Seol</creatorcontrib><creatorcontrib>Chai, Young Gyu</creatorcontrib><creatorcontrib>Shin, Hyoung Doo</creatorcontrib><title>Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population</title><title>Disease markers</title><addtitle>Dis Markers</addtitle><description>The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. 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Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.</description><subject>Aged</subject><subject>Alcoholism - genetics</subject><subject>Case-Control Studies</subject><subject>Cognition Disorders - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Multiple Sclerosis - genetics</subject><subject>Other</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Prion Proteins</subject><subject>Prions - genetics</subject><subject>Risk Factors</subject><subject>Schizophrenia - genetics</subject><issn>0278-0240</issn><issn>1875-8630</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkM1KxDAUhYMoOo4u3UoewOpN007bjSD-44wOom7LbZraaJqEpKOMj-LTWvxDV3dx-b5zOITsMNjnMecHJ7OjKAYGEWSMrZARy7M0yiccVskI4iyPIE5gg2yG8ATA4iIp1slGDGkRJ-lkRN6nKJ6pbSiGYIXCXllDK9m_Smno_PZ6TmcD9ECd1cvOeteq0FE0Ne0WuldOSxqElt4GFfZop3RNhX00qlcvkqrOofKdNP0eRS1sa_UPHUSr3qxrvTQKqTIU6ZX1Es0Q5Bb6s8YWWWtQB7n9fcfk_uz07vgimt6cXx4fTSPHcugjhgJ4mlfDGDmDpqhkxmQtMa05ryHhVSxSiZjVxSSpmkkBScJYlidpU7CqEpyPyeGX1y2qTtZi6OtRl86rDv2ytKjK_x-j2vLRvpQ85zxjMAh2_wp-yZ-V-QcKOYL8</recordid><startdate>2010</startdate><enddate>2010</enddate><creator>Choi, Ihn-Geun</creator><creator>Woo, Sung-Il</creator><creator>Kim, Ho Jin</creator><creator>Kim, Dai-Jin</creator><creator>Park, Byung Lae</creator><creator>Cheong, Hyun Sub</creator><creator>Pasaje, Charisse Flerida A</creator><creator>Park, Tae Joon</creator><creator>Bae, Joon Seol</creator><creator>Chai, Young Gyu</creator><creator>Shin, Hyoung Doo</creator><general>IOS Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>5PM</scope></search><sort><creationdate>2010</creationdate><title>Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population</title><author>Choi, Ihn-Geun ; Woo, Sung-Il ; Kim, Ho Jin ; Kim, Dai-Jin ; Park, Byung Lae ; Cheong, Hyun Sub ; Pasaje, Charisse Flerida A ; Park, Tae Joon ; Bae, Joon Seol ; Chai, Young Gyu ; Shin, Hyoung Doo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p180t-1ac0358b233810f9be71edea5d33d043b2c5eaa7d964bf69044117845f91bbc33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Aged</topic><topic>Alcoholism - genetics</topic><topic>Case-Control Studies</topic><topic>Cognition Disorders - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Multiple Sclerosis - genetics</topic><topic>Other</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Prion Proteins</topic><topic>Prions - genetics</topic><topic>Risk Factors</topic><topic>Schizophrenia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Choi, Ihn-Geun</creatorcontrib><creatorcontrib>Woo, Sung-Il</creatorcontrib><creatorcontrib>Kim, Ho Jin</creatorcontrib><creatorcontrib>Kim, Dai-Jin</creatorcontrib><creatorcontrib>Park, Byung Lae</creatorcontrib><creatorcontrib>Cheong, Hyun Sub</creatorcontrib><creatorcontrib>Pasaje, Charisse Flerida A</creatorcontrib><creatorcontrib>Park, Tae Joon</creatorcontrib><creatorcontrib>Bae, Joon Seol</creatorcontrib><creatorcontrib>Chai, Young Gyu</creatorcontrib><creatorcontrib>Shin, Hyoung Doo</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Disease markers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Choi, Ihn-Geun</au><au>Woo, Sung-Il</au><au>Kim, Ho Jin</au><au>Kim, Dai-Jin</au><au>Park, Byung Lae</au><au>Cheong, Hyun Sub</au><au>Pasaje, Charisse Flerida A</au><au>Park, Tae Joon</au><au>Bae, Joon Seol</au><au>Chai, Young Gyu</au><au>Shin, Hyoung Doo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population</atitle><jtitle>Disease markers</jtitle><addtitle>Dis Markers</addtitle><date>2010</date><risdate>2010</risdate><volume>28</volume><issue>5</issue><spage>315</spage><epage>321</epage><pages>315-321</pages><issn>0278-0240</issn><eissn>1875-8630</eissn><abstract>The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. In this study, we examined the possible genetic association of PRNP*129Val with multiple sclerosis (MS, n=681), mild cognitive impairment (MCI, n=801), alcoholism (n=761) and schizophrenia (n=715) in a Korean population, and compared the data with previous genetic association studies of the variant. The minor allele frequency of PRNP*129Val (MAF =0.025) was significantly lower in Korean population (n=2,479) compared to Caucasian populations (P < 0.0001), suggestive of a weak influence of the variant in the previous population. Statistical analysis revealed no significant association between PRNP*129Val and MS (P= 0.76), MCI (P=0.46), alcoholism (P=0.84) and schizophrenia (P =0.69). These findings were discussed in the context of prior inconsistent reports on the role of PRNP*129Val polymorphism in several diseases. Results from this study may provide further evidence that PRNP M129V is not a genetic susceptibility factor for MS, MCI, alcoholism and schizophrenia in a Korean population.</abstract><cop>United States</cop><pub>IOS Press</pub><pmid>20592456</pmid><doi>10.3233/DMA-2010-0711</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Alcoholism - genetics Case-Control Studies Cognition Disorders - genetics Female Genetic Predisposition to Disease Genotype Humans Male Multiple Sclerosis - genetics Other Polymerase Chain Reaction Polymorphism, Genetic - genetics Prion Proteins Prions - genetics Risk Factors Schizophrenia - genetics |
| title | Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population |
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