Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population
Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) p...
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creator | Huang, Lei Yu, Yangeng Chen, Yili Tester, David J. Tang, Shuangbo Ackerman, Michael J. Yuan, Zichuang Cheng, Jianding |
description | Here, we investigate the association of common polymorphisms of the
NOS1AP
gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common
NOS1AP
polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998,
P
= 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991,
P
= 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (
P
> 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (
P
= 0.040). This is the first report of the association of common
NOS1AP
polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier. |
doi_str_mv | 10.1007/s00414-014-0973-5 |
format | Article |
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NOS1AP
gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common
NOS1AP
polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998,
P
= 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991,
P
= 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (
P
> 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (
P
= 0.040). This is the first report of the association of common
NOS1AP
polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.</description><identifier>ISSN: 0937-9827</identifier><identifier>EISSN: 1437-1596</identifier><identifier>DOI: 10.1007/s00414-014-0973-5</identifier><identifier>PMID: 24504561</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adaptor Proteins, Signal Transducing - genetics ; Adolescent ; Adult ; Alleles ; Asian Continental Ancestry Group - genetics ; Autopsies ; Case-Control Studies ; China - ethnology ; Confidence intervals ; Death, Sudden - epidemiology ; Ethnic Groups - genetics ; Forensic Medicine ; Forensic pathology ; Genetic testing ; Genotype ; Haplotypes ; Histopathology ; Humans ; Male ; Males ; Medical Law ; Medicine ; Medicine & Public Health ; Middle Aged ; Nitric oxide ; Polymorphism, Single Nucleotide ; Short Communication ; Young Adult</subject><ispartof>International journal of legal medicine, 2014-11, Vol.128 (6), p.933-938</ispartof><rights>Springer-Verlag Berlin Heidelberg 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c442t-9b4d823f2d146e36114dff693c062eb23045ffa303e6683895d9168e0c42198e3</citedby><cites>FETCH-LOGICAL-c442t-9b4d823f2d146e36114dff693c062eb23045ffa303e6683895d9168e0c42198e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00414-014-0973-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00414-014-0973-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24504561$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Huang, Lei</creatorcontrib><creatorcontrib>Yu, Yangeng</creatorcontrib><creatorcontrib>Chen, Yili</creatorcontrib><creatorcontrib>Tester, David J.</creatorcontrib><creatorcontrib>Tang, Shuangbo</creatorcontrib><creatorcontrib>Ackerman, Michael J.</creatorcontrib><creatorcontrib>Yuan, Zichuang</creatorcontrib><creatorcontrib>Cheng, Jianding</creatorcontrib><title>Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population</title><title>International journal of legal medicine</title><addtitle>Int J Legal Med</addtitle><addtitle>Int J Legal Med</addtitle><description>Here, we investigate the association of common polymorphisms of the
NOS1AP
gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common
NOS1AP
polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998,
P
= 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991,
P
= 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (
P
> 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (
P
= 0.040). This is the first report of the association of common
NOS1AP
polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.</description><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Alleles</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Autopsies</subject><subject>Case-Control Studies</subject><subject>China - ethnology</subject><subject>Confidence intervals</subject><subject>Death, Sudden - epidemiology</subject><subject>Ethnic Groups - genetics</subject><subject>Forensic Medicine</subject><subject>Forensic pathology</subject><subject>Genetic testing</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Histopathology</subject><subject>Humans</subject><subject>Male</subject><subject>Males</subject><subject>Medical Law</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Nitric oxide</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Short Communication</subject><subject>Young Adult</subject><issn>0937-9827</issn><issn>1437-1596</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kcFq3DAQhkVJabZpHyCXIMilF7caSZal47KkTSE0hbZno7XGWQdbciQ7aR6g7115Ny2lkMMwA_P9_zD8hJwCew-MVR8SYxJkwZYylSjKF2QFUlQFlEYdkRUzeTaaV8fkdUq3jEGlqvIVOeayZLJUsCK_1imFprNTFzwNLW3CMOTp3sbO-inRztMv199g_ZXeoEf60E07mmbn0NPZ48-xt51HR31opjl621OHdkEevYthwEU_7ZCmMOcWPd3sMp-QXlpPxzDO_f7yG_KytX3Ct0_9hPz4ePF9c1lcXX_6vFlfFY2UfCrMVjrNRcsdSIVCAUjXtsqIhimOWy7yU21rBROolBbalM6A0sgaycFoFCfk3cF3jOFuxjTVQ5ca7HvrMcypBgWc68pAldHz_9DbsP9wTzFtuCl1puBANTGkFLGtx9gNNj7WwOolo_qQUc2WyhnVZdacPTnP2wHdX8WfUDLAD0DKK3-D8Z_Tz7r-BtD9nHE</recordid><startdate>20141101</startdate><enddate>20141101</enddate><creator>Huang, Lei</creator><creator>Yu, Yangeng</creator><creator>Chen, Yili</creator><creator>Tester, David J.</creator><creator>Tang, Shuangbo</creator><creator>Ackerman, Michael J.</creator><creator>Yuan, Zichuang</creator><creator>Cheng, Jianding</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature 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>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AM</scope><scope>8AO</scope><scope>8FE</scope><scope>8FG</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BGRYB</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>HCIFZ</scope><scope>K7.</scope><scope>K9.</scope><scope>L6V</scope><scope>M0O</scope><scope>M0S</scope><scope>M1P</scope><scope>M7S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PTHSS</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20141101</creationdate><title>Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population</title><author>Huang, Lei ; Yu, Yangeng ; Chen, Yili ; Tester, David J. ; Tang, Shuangbo ; Ackerman, Michael J. ; Yuan, Zichuang ; Cheng, Jianding</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c442t-9b4d823f2d146e36114dff693c062eb23045ffa303e6683895d9168e0c42198e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Alleles</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Autopsies</topic><topic>Case-Control Studies</topic><topic>China - ethnology</topic><topic>Confidence intervals</topic><topic>Death, Sudden - epidemiology</topic><topic>Ethnic Groups - genetics</topic><topic>Forensic Medicine</topic><topic>Forensic pathology</topic><topic>Genetic testing</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Histopathology</topic><topic>Humans</topic><topic>Male</topic><topic>Males</topic><topic>Medical Law</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Nitric oxide</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Short Communication</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huang, Lei</creatorcontrib><creatorcontrib>Yu, Yangeng</creatorcontrib><creatorcontrib>Chen, Yili</creatorcontrib><creatorcontrib>Tester, David J.</creatorcontrib><creatorcontrib>Tang, Shuangbo</creatorcontrib><creatorcontrib>Ackerman, Michael J.</creatorcontrib><creatorcontrib>Yuan, Zichuang</creatorcontrib><creatorcontrib>Cheng, Jianding</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 Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Criminal Justice Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Criminology Collection</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>SciTech Premium Collection</collection><collection>ProQuest Criminal Justice (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Criminal Justice</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Engineering 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>Engineering Collection</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of legal medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Huang, Lei</au><au>Yu, Yangeng</au><au>Chen, Yili</au><au>Tester, David J.</au><au>Tang, Shuangbo</au><au>Ackerman, Michael J.</au><au>Yuan, Zichuang</au><au>Cheng, Jianding</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population</atitle><jtitle>International journal of legal medicine</jtitle><stitle>Int J Legal Med</stitle><addtitle>Int J Legal Med</addtitle><date>2014-11-01</date><risdate>2014</risdate><volume>128</volume><issue>6</issue><spage>933</spage><epage>938</epage><pages>933-938</pages><issn>0937-9827</issn><eissn>1437-1596</eissn><abstract>Here, we investigate the association of common polymorphisms of the
NOS1AP
gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common
NOS1AP
polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998,
P
= 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991,
P
= 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (
P
> 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (
P
= 0.040). This is the first report of the association of common
NOS1AP
polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>24504561</pmid><doi>10.1007/s00414-014-0973-5</doi><tpages>6</tpages></addata></record> |
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subjects | Adaptor Proteins, Signal Transducing - genetics Adolescent Adult Alleles Asian Continental Ancestry Group - genetics Autopsies Case-Control Studies China - ethnology Confidence intervals Death, Sudden - epidemiology Ethnic Groups - genetics Forensic Medicine Forensic pathology Genetic testing Genotype Haplotypes Histopathology Humans Male Males Medical Law Medicine Medicine & Public Health Middle Aged Nitric oxide Polymorphism, Single Nucleotide Short Communication Young Adult |
title | Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population |
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