Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects
To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with FTSJ1 gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs)...
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| Veröffentlicht in: | Journal of human genetics 2008-07, Vol.53 (7), p.592-597 |
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| creator | Dai, Ling Xing, Lianxi Gong, Pingyuan Zhang, Kejin Gao, Xiaocai Zheng, Zijian Zhou, Jianping Guo, Yale Guo, Shaoping Zhang, Fuchang |
| description | To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with
FTSJ1
gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR–SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all
D
′ > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (
P
= 0.036), rs2070991 (
P
= 0.043), and rs5905692 (
P
= 0.014) and in the distributions of common haplotypes combined by these SNPs (global
P
= 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the
FTSJ1
gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region. |
| doi_str_mv | 10.1007/s10038-008-0287-x |
| format | Article |
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FTSJ1
gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR–SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all
D
′ > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (
P
= 0.036), rs2070991 (
P
= 0.043), and rs5905692 (
P
= 0.014) and in the distributions of common haplotypes combined by these SNPs (global
P
= 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the
FTSJ1
gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-008-0287-x</identifier><identifier>PMID: 18401546</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Adolescent ; Biomedicine ; Case-Control Studies ; Child ; Child, Preschool ; China ; Female ; Gene Expression ; Gene frequency ; Gene Function ; Gene Therapy ; Genetic diversity ; Haplotypes ; Human Genetics ; Humans ; Infant ; Infant, Newborn ; Intellectual disabilities ; Linkage analysis ; Linkage disequilibrium ; Male ; Mental Retardation, X-Linked - genetics ; Methyltransferases - genetics ; Molecular Medicine ; Nuclear Proteins - genetics ; Original Article ; Polymerase chain reaction ; Polymorphism, Single Nucleotide ; Single-nucleotide polymorphism ; Syndrome</subject><ispartof>Journal of human genetics, 2008-07, Vol.53 (7), p.592-597</ispartof><rights>The Japan Society of Human Genetics and Springer 2008</rights><rights>The Japan Society of Human Genetics and Springer 2008.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c468t-f6d3d8cf1af40078b6d5f2bc1e621bca6d2e5d506d6ce3925585d199695943d83</citedby><cites>FETCH-LOGICAL-c468t-f6d3d8cf1af40078b6d5f2bc1e621bca6d2e5d506d6ce3925585d199695943d83</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/s10038-008-0287-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10038-008-0287-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18401546$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dai, Ling</creatorcontrib><creatorcontrib>Xing, Lianxi</creatorcontrib><creatorcontrib>Gong, Pingyuan</creatorcontrib><creatorcontrib>Zhang, Kejin</creatorcontrib><creatorcontrib>Gao, Xiaocai</creatorcontrib><creatorcontrib>Zheng, Zijian</creatorcontrib><creatorcontrib>Zhou, Jianping</creatorcontrib><creatorcontrib>Guo, Yale</creatorcontrib><creatorcontrib>Guo, Shaoping</creatorcontrib><creatorcontrib>Zhang, Fuchang</creatorcontrib><title>Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with
FTSJ1
gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR–SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all
D
′ > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (
P
= 0.036), rs2070991 (
P
= 0.043), and rs5905692 (
P
= 0.014) and in the distributions of common haplotypes combined by these SNPs (global
P
= 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the
FTSJ1
gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.</description><subject>Adolescent</subject><subject>Biomedicine</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>China</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene frequency</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic diversity</subject><subject>Haplotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intellectual disabilities</subject><subject>Linkage analysis</subject><subject>Linkage disequilibrium</subject><subject>Male</subject><subject>Mental Retardation, X-Linked - genetics</subject><subject>Methyltransferases - genetics</subject><subject>Molecular Medicine</subject><subject>Nuclear Proteins - genetics</subject><subject>Original Article</subject><subject>Polymerase chain reaction</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Single-nucleotide polymorphism</subject><subject>Syndrome</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkV2L1DAUhoso7rr6A7yRgOBdNUmbTHopw64fLCi4wt6FNDmdydgmY06qO5f-czN2YEEQL_IBed4nHN6qes7oa0bp6g2WvVE1pWVxtarvHlTnrG1EzRt--_DPva0Fk-yseoK4o4XmK_64OmOqpUy08rz69Tmiz_4HEIMYrTfZx0DiQPIWyNXNl4-MbCAA2cfxMMW033qckPz0eUtCDHgILsXJW3Jbjz58A0cmCNmMJEE2yS02H8ghzmFD1lsfAIFMZgSCc78Dm_Fp9WgwI8Kz03lRfb26vFm_r68_vfuwfntd21aqXA_SNU7ZgZmhLbOrXjox8N4ykJz11kjHQThBpZMWmo4LoYRjXSc70bUl2VxUrxbvPsXvM2DWk0cL42gCxBm1LBmpWPNfkFMl1KrjBXz5F7iLcwplCM3bImOt6I46tlA2RcQEg94nP5l00IzqY416qVGXGvWxRn1XMi9O5rmfwN0nTr0VgC8AlqewgXT_9b-tvwEZZ6oY</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Dai, Ling</creator><creator>Xing, Lianxi</creator><creator>Gong, Pingyuan</creator><creator>Zhang, Kejin</creator><creator>Gao, Xiaocai</creator><creator>Zheng, Zijian</creator><creator>Zhou, Jianping</creator><creator>Guo, Yale</creator><creator>Guo, Shaoping</creator><creator>Zhang, Fuchang</creator><general>Springer Japan</general><general>Nature Publishing Group</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>8FD</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>FR3</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>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080701</creationdate><title>Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects</title><author>Dai, Ling ; Xing, Lianxi ; Gong, Pingyuan ; Zhang, Kejin ; Gao, Xiaocai ; Zheng, Zijian ; Zhou, Jianping ; Guo, Yale ; Guo, Shaoping ; Zhang, Fuchang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c468t-f6d3d8cf1af40078b6d5f2bc1e621bca6d2e5d506d6ce3925585d199695943d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Biomedicine</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>China</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene frequency</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic diversity</topic><topic>Haplotypes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual disabilities</topic><topic>Linkage analysis</topic><topic>Linkage disequilibrium</topic><topic>Male</topic><topic>Mental Retardation, X-Linked - genetics</topic><topic>Methyltransferases - genetics</topic><topic>Molecular Medicine</topic><topic>Nuclear Proteins - genetics</topic><topic>Original Article</topic><topic>Polymerase chain reaction</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Single-nucleotide polymorphism</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dai, Ling</creatorcontrib><creatorcontrib>Xing, Lianxi</creatorcontrib><creatorcontrib>Gong, Pingyuan</creatorcontrib><creatorcontrib>Zhang, Kejin</creatorcontrib><creatorcontrib>Gao, Xiaocai</creatorcontrib><creatorcontrib>Zheng, Zijian</creatorcontrib><creatorcontrib>Zhou, Jianping</creatorcontrib><creatorcontrib>Guo, Yale</creatorcontrib><creatorcontrib>Guo, Shaoping</creatorcontrib><creatorcontrib>Zhang, Fuchang</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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research 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>Engineering Research 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>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dai, Ling</au><au>Xing, Lianxi</au><au>Gong, Pingyuan</au><au>Zhang, Kejin</au><au>Gao, Xiaocai</au><au>Zheng, Zijian</au><au>Zhou, Jianping</au><au>Guo, Yale</au><au>Guo, Shaoping</au><au>Zhang, Fuchang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>53</volume><issue>7</issue><spage>592</spage><epage>597</epage><pages>592-597</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with
FTSJ1
gene polymorphisms, a case–control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR–SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all
D
′ > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (
P
= 0.036), rs2070991 (
P
= 0.043), and rs5905692 (
P
= 0.014) and in the distributions of common haplotypes combined by these SNPs (global
P
= 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the
FTSJ1
gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>18401546</pmid><doi>10.1007/s10038-008-0287-x</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of human genetics, 2008-07, Vol.53 (7), p.592-597 |
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| subjects | Adolescent Biomedicine Case-Control Studies Child Child, Preschool China Female Gene Expression Gene frequency Gene Function Gene Therapy Genetic diversity Haplotypes Human Genetics Humans Infant Infant, Newborn Intellectual disabilities Linkage analysis Linkage disequilibrium Male Mental Retardation, X-Linked - genetics Methyltransferases - genetics Molecular Medicine Nuclear Proteins - genetics Original Article Polymerase chain reaction Polymorphism, Single Nucleotide Single-nucleotide polymorphism Syndrome |
| title | Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects |
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