Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number Variation
Comparative genomic hybridization (CGH) microarrays. To identify genomic copy number variations (CNVs) in degenerative lumbar scoliosis (DLS) patients, and investigate the possibility of genetic predisposition in DLS. Genome scanning technology enables search for presence of CNVs. CGH microarray is...
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| creator | SHIN, Jae-Hyuk HA, Kee-Yong JUNG, Seung-Hyun CHUNG, Yeun-Jun |
| description | Comparative genomic hybridization (CGH) microarrays.
To identify genomic copy number variations (CNVs) in degenerative lumbar scoliosis (DLS) patients, and investigate the possibility of genetic predisposition in DLS.
Genome scanning technology enables search for presence of CNVs. CGH microarray is a useful procedure in a genome-wide study.
Among 45 consecutive patients who were diagnosed as DLS, 15 patients who manifested greatest Cobb's angle were selected for the array-CGH based CNV analysis. Control group was blood samples from 58 individuals without DLS. Oligonucleotide CGH microarray was utilized to analyze the CNV. Gene searches were performed for CNV DNA with significant gene-dosage difference. Validation qualitative PCR(qPCR) was performed at 3 genetic loci: at chromosome 2--TMEM163 gene, at chromosome 16--ANKRD 11 gene, and at chromosome 18--NFATC1 gene.
Genomic gains and losses were observed using the oligonucleotide CGH microarray. Identified CNVs were 446 ± 129 per individual. Gain- and loss-CNVs were identified as 196 ± 24 and 250 ± 110, respectively. The length of total CNV per individual was 30,946,730 ± 31,658,175 bp, and mean CNV-length was 61,017 ± 40,620 (median length 6411 ± 1994). Comparison with control group revealed 260 CNVs, which were significant (P < 10(-3)). Validation qPCR for gene-dosage comparison of DLS group DNA versus control group DNA in TMEM163 (P < 0.001); ANKRD 11 (P = 0.000); and NFATC1 (P = 0.000) gene showed significant difference.
Various whole-genome CNVs specific to DLS patients were observed. Validation qPCR confirmed significantly different gene-dosages for TMEM163, ANKRD 11, and NFATC1 genes. We consider that the expression of DLS is supported by various typical CNV-associated structural variants of the genome. |
| doi_str_mv | 10.1097/brs.0b013e318221a65f |
| format | Article |
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To identify genomic copy number variations (CNVs) in degenerative lumbar scoliosis (DLS) patients, and investigate the possibility of genetic predisposition in DLS.
Genome scanning technology enables search for presence of CNVs. CGH microarray is a useful procedure in a genome-wide study.
Among 45 consecutive patients who were diagnosed as DLS, 15 patients who manifested greatest Cobb's angle were selected for the array-CGH based CNV analysis. Control group was blood samples from 58 individuals without DLS. Oligonucleotide CGH microarray was utilized to analyze the CNV. Gene searches were performed for CNV DNA with significant gene-dosage difference. Validation qualitative PCR(qPCR) was performed at 3 genetic loci: at chromosome 2--TMEM163 gene, at chromosome 16--ANKRD 11 gene, and at chromosome 18--NFATC1 gene.
Genomic gains and losses were observed using the oligonucleotide CGH microarray. Identified CNVs were 446 ± 129 per individual. Gain- and loss-CNVs were identified as 196 ± 24 and 250 ± 110, respectively. The length of total CNV per individual was 30,946,730 ± 31,658,175 bp, and mean CNV-length was 61,017 ± 40,620 (median length 6411 ± 1994). Comparison with control group revealed 260 CNVs, which were significant (P < 10(-3)). Validation qPCR for gene-dosage comparison of DLS group DNA versus control group DNA in TMEM163 (P < 0.001); ANKRD 11 (P = 0.000); and NFATC1 (P = 0.000) gene showed significant difference.
Various whole-genome CNVs specific to DLS patients were observed. Validation qPCR confirmed significantly different gene-dosages for TMEM163, ANKRD 11, and NFATC1 genes. We consider that the expression of DLS is supported by various typical CNV-associated structural variants of the genome.</description><identifier>ISSN: 0362-2436</identifier><identifier>EISSN: 1528-1159</identifier><identifier>DOI: 10.1097/brs.0b013e318221a65f</identifier><identifier>PMID: 21587107</identifier><identifier>CODEN: SPINDD</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Aged ; Biological and medical sciences ; Case-Control Studies ; Cerebrospinal fluid. Meninges. Spinal cord ; Chi-Square Distribution ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 2 ; Comparative Genomic Hybridization ; Diseases of striated muscles. Neuromuscular diseases ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; Humans ; Lumbar Vertebrae - physiopathology ; Male ; Medical sciences ; Membrane Proteins - genetics ; Middle Aged ; Nervous system (semeiology, syndromes) ; Neurology ; NFATC Transcription Factors - genetics ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Polymerase Chain Reaction ; Repressor Proteins - genetics ; Reproducibility of Results ; Republic of Korea ; Risk Assessment ; Risk Factors ; Scoliosis - diagnosis ; Scoliosis - genetics ; Scoliosis - physiopathology</subject><ispartof>Spine (Philadelphia, Pa. 1976), 2011-10, Vol.36 (21), p.1782-1793</ispartof><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-eb8e2405a8bce8aa6c1f01e808f70ef68721da28445c02464408da25d013ee1c3</citedby><cites>FETCH-LOGICAL-c431t-eb8e2405a8bce8aa6c1f01e808f70ef68721da28445c02464408da25d013ee1c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24572873$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21587107$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SHIN, Jae-Hyuk</creatorcontrib><creatorcontrib>HA, Kee-Yong</creatorcontrib><creatorcontrib>JUNG, Seung-Hyun</creatorcontrib><creatorcontrib>CHUNG, Yeun-Jun</creatorcontrib><title>Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number Variation</title><title>Spine (Philadelphia, Pa. 1976)</title><addtitle>Spine (Phila Pa 1976)</addtitle><description>Comparative genomic hybridization (CGH) microarrays.
To identify genomic copy number variations (CNVs) in degenerative lumbar scoliosis (DLS) patients, and investigate the possibility of genetic predisposition in DLS.
Genome scanning technology enables search for presence of CNVs. CGH microarray is a useful procedure in a genome-wide study.
Among 45 consecutive patients who were diagnosed as DLS, 15 patients who manifested greatest Cobb's angle were selected for the array-CGH based CNV analysis. Control group was blood samples from 58 individuals without DLS. Oligonucleotide CGH microarray was utilized to analyze the CNV. Gene searches were performed for CNV DNA with significant gene-dosage difference. Validation qualitative PCR(qPCR) was performed at 3 genetic loci: at chromosome 2--TMEM163 gene, at chromosome 16--ANKRD 11 gene, and at chromosome 18--NFATC1 gene.
Genomic gains and losses were observed using the oligonucleotide CGH microarray. Identified CNVs were 446 ± 129 per individual. Gain- and loss-CNVs were identified as 196 ± 24 and 250 ± 110, respectively. The length of total CNV per individual was 30,946,730 ± 31,658,175 bp, and mean CNV-length was 61,017 ± 40,620 (median length 6411 ± 1994). Comparison with control group revealed 260 CNVs, which were significant (P < 10(-3)). Validation qPCR for gene-dosage comparison of DLS group DNA versus control group DNA in TMEM163 (P < 0.001); ANKRD 11 (P = 0.000); and NFATC1 (P = 0.000) gene showed significant difference.
Various whole-genome CNVs specific to DLS patients were observed. Validation qPCR confirmed significantly different gene-dosages for TMEM163, ANKRD 11, and NFATC1 genes. We consider that the expression of DLS is supported by various typical CNV-associated structural variants of the genome.</description><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Cerebrospinal fluid. Meninges. Spinal cord</subject><subject>Chi-Square Distribution</subject><subject>Chromosomes, Human, Pair 16</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Comparative Genomic Hybridization</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Female</subject><subject>Gene Dosage</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Lumbar Vertebrae - physiopathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>NFATC Transcription Factors - genetics</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Repressor Proteins - genetics</subject><subject>Reproducibility of Results</subject><subject>Republic of Korea</subject><subject>Risk Assessment</subject><subject>Risk Factors</subject><subject>Scoliosis - diagnosis</subject><subject>Scoliosis - genetics</subject><subject>Scoliosis - physiopathology</subject><issn>0362-2436</issn><issn>1528-1159</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkE9LxDAQxYMo7rr6DURyEU9dM0napkdddRUWFVfFW0nTqUb6z6QV9tvbxVXB0zDM773hPUIOgU2BJfFp5vyUZQwEClCcg47CYouMIeQqAAiTbTJmIuIBlyIakT3v3xljkYBkl4w4hCoGFo_Jyxxr7Kyh9w5z69vG2842NbU1vcDX4eZ0Zz-RLvoq044uTVPagfE075F2De3ekM6adkVvBwAdfdbO6rXDPtkpdOnxYDMn5Onq8nF2HSzu5jezs0VgpIAuwEwhlyzUKjOotI4MFAxQMVXEDItIxRxyzZWUoWFcRlIyNexhvg6OYMSEnHz7tq756NF3aWW9wbLUNTa9T1UiFcQ8SgZSfpPGNd47LNLW2Uq7VQosXVeanj8s0_-VDrKjzYM-qzD_Ff10OADHG0B7o8vC6dpY_8fJMOYqFuILF12Acg</recordid><startdate>20111001</startdate><enddate>20111001</enddate><creator>SHIN, Jae-Hyuk</creator><creator>HA, Kee-Yong</creator><creator>JUNG, Seung-Hyun</creator><creator>CHUNG, Yeun-Jun</creator><general>Lippincott Williams & Wilkins</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>20111001</creationdate><title>Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number Variation</title><author>SHIN, Jae-Hyuk ; HA, Kee-Yong ; JUNG, Seung-Hyun ; CHUNG, Yeun-Jun</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c431t-eb8e2405a8bce8aa6c1f01e808f70ef68721da28445c02464408da25d013ee1c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Cerebrospinal fluid. Meninges. Spinal cord</topic><topic>Chi-Square Distribution</topic><topic>Chromosomes, Human, Pair 16</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Comparative Genomic Hybridization</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Female</topic><topic>Gene Dosage</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Lumbar Vertebrae - physiopathology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Middle Aged</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>NFATC Transcription Factors - genetics</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Repressor Proteins - genetics</topic><topic>Reproducibility of Results</topic><topic>Republic of Korea</topic><topic>Risk Assessment</topic><topic>Risk Factors</topic><topic>Scoliosis - diagnosis</topic><topic>Scoliosis - genetics</topic><topic>Scoliosis - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SHIN, Jae-Hyuk</creatorcontrib><creatorcontrib>HA, Kee-Yong</creatorcontrib><creatorcontrib>JUNG, Seung-Hyun</creatorcontrib><creatorcontrib>CHUNG, Yeun-Jun</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Spine (Philadelphia, Pa. 1976)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SHIN, Jae-Hyuk</au><au>HA, Kee-Yong</au><au>JUNG, Seung-Hyun</au><au>CHUNG, Yeun-Jun</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number Variation</atitle><jtitle>Spine (Philadelphia, Pa. 1976)</jtitle><addtitle>Spine (Phila Pa 1976)</addtitle><date>2011-10-01</date><risdate>2011</risdate><volume>36</volume><issue>21</issue><spage>1782</spage><epage>1793</epage><pages>1782-1793</pages><issn>0362-2436</issn><eissn>1528-1159</eissn><coden>SPINDD</coden><abstract>Comparative genomic hybridization (CGH) microarrays.
To identify genomic copy number variations (CNVs) in degenerative lumbar scoliosis (DLS) patients, and investigate the possibility of genetic predisposition in DLS.
Genome scanning technology enables search for presence of CNVs. CGH microarray is a useful procedure in a genome-wide study.
Among 45 consecutive patients who were diagnosed as DLS, 15 patients who manifested greatest Cobb's angle were selected for the array-CGH based CNV analysis. Control group was blood samples from 58 individuals without DLS. Oligonucleotide CGH microarray was utilized to analyze the CNV. Gene searches were performed for CNV DNA with significant gene-dosage difference. Validation qualitative PCR(qPCR) was performed at 3 genetic loci: at chromosome 2--TMEM163 gene, at chromosome 16--ANKRD 11 gene, and at chromosome 18--NFATC1 gene.
Genomic gains and losses were observed using the oligonucleotide CGH microarray. Identified CNVs were 446 ± 129 per individual. Gain- and loss-CNVs were identified as 196 ± 24 and 250 ± 110, respectively. The length of total CNV per individual was 30,946,730 ± 31,658,175 bp, and mean CNV-length was 61,017 ± 40,620 (median length 6411 ± 1994). Comparison with control group revealed 260 CNVs, which were significant (P < 10(-3)). Validation qPCR for gene-dosage comparison of DLS group DNA versus control group DNA in TMEM163 (P < 0.001); ANKRD 11 (P = 0.000); and NFATC1 (P = 0.000) gene showed significant difference.
Various whole-genome CNVs specific to DLS patients were observed. Validation qPCR confirmed significantly different gene-dosages for TMEM163, ANKRD 11, and NFATC1 genes. We consider that the expression of DLS is supported by various typical CNV-associated structural variants of the genome.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>21587107</pmid><doi>10.1097/brs.0b013e318221a65f</doi><tpages>12</tpages></addata></record> |
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| subjects | Aged Biological and medical sciences Case-Control Studies Cerebrospinal fluid. Meninges. Spinal cord Chi-Square Distribution Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 2 Comparative Genomic Hybridization Diseases of striated muscles. Neuromuscular diseases Female Gene Dosage Genetic Predisposition to Disease Humans Lumbar Vertebrae - physiopathology Male Medical sciences Membrane Proteins - genetics Middle Aged Nervous system (semeiology, syndromes) Neurology NFATC Transcription Factors - genetics Oligonucleotide Array Sequence Analysis Phenotype Polymerase Chain Reaction Repressor Proteins - genetics Reproducibility of Results Republic of Korea Risk Assessment Risk Factors Scoliosis - diagnosis Scoliosis - genetics Scoliosis - physiopathology |
| title | Genetic Predisposition in Degenerative Lumbar Scoliosis due to the Copy Number Variation |
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