CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58)...
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| Veröffentlicht in: | BMC neurology 2014-03, Vol.14 (1), p.57-57, Article 57 |
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| description | Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population.
Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO.
The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04).
The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development. |
| doi_str_mv | 10.1186/1471-2377-14-57 |
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Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO.
The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04).
The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.</description><identifier>ISSN: 1471-2377</identifier><identifier>EISSN: 1471-2377</identifier><identifier>DOI: 10.1186/1471-2377-14-57</identifier><identifier>PMID: 24655566</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Adolescent ; Adult ; Aged ; CD58 Antigens - genetics ; Child ; Chromosomes ; Complications and side effects ; Development and progression ; Female ; Genetic aspects ; Genetic Association Studies - methods ; Humans ; Male ; Middle Aged ; Multiple sclerosis ; Neuromyelitis Optica - diagnosis ; Neuromyelitis Optica - epidemiology ; Neuromyelitis Optica - genetics ; Physiological aspects ; Polymorphism, Single Nucleotide - genetics ; Population Surveillance - methods ; Republic of Korea - epidemiology ; Risk Factors ; Single nucleotide polymorphisms ; Young Adult</subject><ispartof>BMC neurology, 2014-03, Vol.14 (1), p.57-57, Article 57</ispartof><rights>COPYRIGHT 2014 BioMed Central Ltd.</rights><rights>2014 Kim et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.</rights><rights>Copyright © 2014 Kim et al.; licensee BioMed Central Ltd. 2014 Kim et al.; licensee BioMed Central Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b580t-d3e44cd2c7f3eaf78573bf41bc27ecb735cc5c3a3668eb9ab26cff379e8d1c323</citedby><cites>FETCH-LOGICAL-b580t-d3e44cd2c7f3eaf78573bf41bc27ecb735cc5c3a3668eb9ab26cff379e8d1c323</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998011/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998011/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24655566$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Jason Yongha</creatorcontrib><creatorcontrib>Bae, Joon Seol</creatorcontrib><creatorcontrib>Kim, Ho Jin</creatorcontrib><creatorcontrib>Shin, Hyoung Doo</creatorcontrib><title>CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population</title><title>BMC neurology</title><addtitle>BMC Neurol</addtitle><description>Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population.
Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO.
The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04).
The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>CD58 Antigens - genetics</subject><subject>Child</subject><subject>Chromosomes</subject><subject>Complications and side effects</subject><subject>Development and progression</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies - methods</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Multiple sclerosis</subject><subject>Neuromyelitis Optica - diagnosis</subject><subject>Neuromyelitis Optica - epidemiology</subject><subject>Neuromyelitis Optica - genetics</subject><subject>Physiological aspects</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population Surveillance - methods</subject><subject>Republic of Korea - epidemiology</subject><subject>Risk Factors</subject><subject>Single nucleotide polymorphisms</subject><subject>Young Adult</subject><issn>1471-2377</issn><issn>1471-2377</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqNkk1v1DAQhi1ERcvCmRuyxIVL2tiOY-eCVJavqpW4wIWL5TjjrktiBzsB7b_H0Zali1oJ-eDRzDOvRu8MQi9IeUqIrM9IJUhBmRAFqQouHqGTfebxnfgYPU3ppiyJkBV5go5pVXPO6_oEfVu_4xKPod8OIY4bl4aEdUrBOD1Bh3-5aYOnDeDo0nccLPYwxzBsoXeTSziMkzMaO481vgwRtM9S49zryQX_DB1Z3Sd4fvuv0NcP77-sPxVXnz9erM-vipbLcio6BlVlOmqEZaCtkFyw1lakNVSAaQXjxnDDNKtrCW2jW1oba5loQHbEMMpW6M1Od5zbAToDfoq6V2N0g45bFbRThxXvNuo6_FSsaWRJSBZ4uxNoXXhA4LBiwqAWb9XibY5UHnmFXt9OEcOPGdKkBpcM9L32EOakCKdVVTY1b_4DJZRSWcoFffUPehPm6LOdCyU5Lyklf6lr3YNy3oY8pllE1TlnDReCyzpTp_dQ-XUwOBM8WJfzBw1nuwYTQ0oR7N4SUqrl_O4x4eXdVez5P_fGfgPhhtXB</recordid><startdate>20140324</startdate><enddate>20140324</enddate><creator>Kim, Jason Yongha</creator><creator>Bae, Joon Seol</creator><creator>Kim, Ho Jin</creator><creator>Shin, Hyoung Doo</creator><general>BioMed Central Ltd</general><general>BioMed Central</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>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20140324</creationdate><title>CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population</title><author>Kim, Jason Yongha ; Bae, Joon Seol ; Kim, Ho Jin ; Shin, Hyoung Doo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b580t-d3e44cd2c7f3eaf78573bf41bc27ecb735cc5c3a3668eb9ab26cff379e8d1c323</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>CD58 Antigens - genetics</topic><topic>Child</topic><topic>Chromosomes</topic><topic>Complications and side effects</topic><topic>Development and progression</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic Association Studies - methods</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Multiple sclerosis</topic><topic>Neuromyelitis Optica - diagnosis</topic><topic>Neuromyelitis Optica - epidemiology</topic><topic>Neuromyelitis Optica - genetics</topic><topic>Physiological aspects</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Population Surveillance - methods</topic><topic>Republic of Korea - epidemiology</topic><topic>Risk Factors</topic><topic>Single nucleotide polymorphisms</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Jason Yongha</creatorcontrib><creatorcontrib>Bae, Joon Seol</creatorcontrib><creatorcontrib>Kim, Ho Jin</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>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>BMC neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Jason Yongha</au><au>Bae, Joon Seol</au><au>Kim, Ho Jin</au><au>Shin, Hyoung Doo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population</atitle><jtitle>BMC neurology</jtitle><addtitle>BMC Neurol</addtitle><date>2014-03-24</date><risdate>2014</risdate><volume>14</volume><issue>1</issue><spage>57</spage><epage>57</epage><pages>57-57</pages><artnum>57</artnum><issn>1471-2377</issn><eissn>1471-2377</eissn><abstract>Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population.
Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO.
The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, P(corr) = 0.01 ~ 0.04).
The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>24655566</pmid><doi>10.1186/1471-2377-14-57</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged CD58 Antigens - genetics Child Chromosomes Complications and side effects Development and progression Female Genetic aspects Genetic Association Studies - methods Humans Male Middle Aged Multiple sclerosis Neuromyelitis Optica - diagnosis Neuromyelitis Optica - epidemiology Neuromyelitis Optica - genetics Physiological aspects Polymorphism, Single Nucleotide - genetics Population Surveillance - methods Republic of Korea - epidemiology Risk Factors Single nucleotide polymorphisms Young Adult |
| title | CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population |
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