Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3
IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN. In this case-control association study, genes possibly...
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| creator | BERTINETTO, Francesca Eleonora CALAFELL, Francesc PAOLO SCHENA, Francesco AMOROSO, Antonio ROGGERO, Stefano CHIDICHIMO, Rossella GARINO, Elena MARCUCCIO, Cristina COPPO, Rosanna SCOLARI, Francesco FRASCA, Giovanni Maria SAVOIDL, Silvana |
| description | IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN.
In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina).
C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged |
| doi_str_mv | 10.1093/ndt/gfr633 |
| format | Article |
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In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina).
C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged <27 years). Furthermore, rs7873784 in TLR4 showed an association with proteinuria (G allele: P = 0.0091; GG genotype: P = 0.0077).
Age and gender are likely to evidence distinct immunological and inflammatory reactions leading to individual susceptibility to IgAN. Overall, a genetic predisposition to sporadic IgAN was found. We might hypothesize that C1GALT1 and TLR4 polymorphisms influence the risk to develop IgAN and proteinuria, respectively.</description><identifier>ISSN: 0931-0509</identifier><identifier>EISSN: 1460-2385</identifier><identifier>DOI: 10.1093/ndt/gfr633</identifier><identifier>PMID: 22131235</identifier><identifier>CODEN: NDTREA</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; Adult ; Aged ; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; Biomarkers - analysis ; Case-Control Studies ; Child ; Child, Preschool ; Chromosome Mapping ; Emergency and intensive care: renal failure. Dialysis management ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; Genotype ; Glomerulonephritis ; Glomerulonephritis, IGA - genetics ; Glomerulonephritis, IGA - pathology ; Humans ; Infant ; Intensive care medicine ; Male ; Medical sciences ; Middle Aged ; Nephrology. Urinary tract diseases ; Nephropathies. Renovascular diseases. Renal failure ; Polymorphism, Single Nucleotide - genetics ; Prognosis ; Proteinuria - genetics ; Proteinuria - pathology ; Retrospective Studies ; Survival Rate ; Young Adult</subject><ispartof>Nephrology, dialysis, transplantation, 2012-06, Vol.27 (6), p.2328-2337</ispartof><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c353t-60233e302e521a6bb1ee9543a4804520a5b8ba2ef5c7ed31eec729e24bdfc98b3</citedby><cites>FETCH-LOGICAL-c353t-60233e302e521a6bb1ee9543a4804520a5b8ba2ef5c7ed31eec729e24bdfc98b3</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=25986848$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22131235$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BERTINETTO, Francesca Eleonora</creatorcontrib><creatorcontrib>CALAFELL, Francesc</creatorcontrib><creatorcontrib>PAOLO SCHENA, Francesco</creatorcontrib><creatorcontrib>AMOROSO, Antonio</creatorcontrib><creatorcontrib>ROGGERO, Stefano</creatorcontrib><creatorcontrib>CHIDICHIMO, Rossella</creatorcontrib><creatorcontrib>GARINO, Elena</creatorcontrib><creatorcontrib>MARCUCCIO, Cristina</creatorcontrib><creatorcontrib>COPPO, Rosanna</creatorcontrib><creatorcontrib>SCOLARI, Francesco</creatorcontrib><creatorcontrib>FRASCA, Giovanni Maria</creatorcontrib><creatorcontrib>SAVOIDL, Silvana</creatorcontrib><creatorcontrib>European IgA Nephropathy Consortium</creatorcontrib><title>Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3</title><title>Nephrology, dialysis, transplantation</title><addtitle>Nephrol Dial Transplant</addtitle><description>IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN.
In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina).
C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged <27 years). Furthermore, rs7873784 in TLR4 showed an association with proteinuria (G allele: P = 0.0091; GG genotype: P = 0.0077).
Age and gender are likely to evidence distinct immunological and inflammatory reactions leading to individual susceptibility to IgAN. Overall, a genetic predisposition to sporadic IgAN was found. We might hypothesize that C1GALT1 and TLR4 polymorphisms influence the risk to develop IgAN and proteinuria, respectively.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - analysis</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Mapping</subject><subject>Emergency and intensive care: renal failure. Dialysis management</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Glomerulonephritis</subject><subject>Glomerulonephritis, IGA - genetics</subject><subject>Glomerulonephritis, IGA - pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Intensive care medicine</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Nephropathies. Renovascular diseases. Renal failure</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Prognosis</subject><subject>Proteinuria - genetics</subject><subject>Proteinuria - pathology</subject><subject>Retrospective Studies</subject><subject>Survival Rate</subject><subject>Young Adult</subject><issn>0931-0509</issn><issn>1460-2385</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkMtO3DAUhq2Kqgy0Gx6g8gYJVUqxfeJcliNEYSRUFsA6OnZOZoIyTmp7hOYVeOp6Li2b42P9nz9LP2MXUvyUooZr18brZecLgE9sJvNCZAoqfcJmKZSZ0KI-ZWchvAohalWWX9ipUhKkAj1j70-E3q54N3q-JEextxxDGG2PsR8dNxTfiBxfLOfc0bTy44RxteXoWm7T6FuMtH8ZeKCBbKSWmy3vNs7uBcmbrjuAr3GaerfkGPmQPuCLu_lvtTftNvjKPnc4BPp2PM_Zy6_b55v77OHxbnEzf8gsaIhZIRQAgVCklcTCGElU6xwwr0SulUBtKoOKOm1LaiGltlQ1qdy0na0rA-fs6uCd_PhnQyE26z5YGgZ0NG5CI4UqocwFqIT-OKDWjyF46prJ92v02wQ1u-6b1H1z6D7B34_ejVlT-x_9V3YCLo8ABotD59HZPnxwuq6KKq_gL3lSja0</recordid><startdate>20120601</startdate><enddate>20120601</enddate><creator>BERTINETTO, Francesca Eleonora</creator><creator>CALAFELL, Francesc</creator><creator>PAOLO SCHENA, Francesco</creator><creator>AMOROSO, Antonio</creator><creator>ROGGERO, Stefano</creator><creator>CHIDICHIMO, Rossella</creator><creator>GARINO, Elena</creator><creator>MARCUCCIO, Cristina</creator><creator>COPPO, Rosanna</creator><creator>SCOLARI, Francesco</creator><creator>FRASCA, Giovanni Maria</creator><creator>SAVOIDL, Silvana</creator><general>Oxford University Press</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>20120601</creationdate><title>Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3</title><author>BERTINETTO, Francesca Eleonora ; CALAFELL, Francesc ; PAOLO SCHENA, Francesco ; AMOROSO, Antonio ; ROGGERO, Stefano ; CHIDICHIMO, Rossella ; GARINO, Elena ; MARCUCCIO, Cristina ; COPPO, Rosanna ; SCOLARI, Francesco ; FRASCA, Giovanni Maria ; SAVOIDL, Silvana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-60233e302e521a6bb1ee9543a4804520a5b8ba2ef5c7ed31eec729e24bdfc98b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - analysis</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Mapping</topic><topic>Emergency and intensive care: renal failure. Dialysis management</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Glomerulonephritis</topic><topic>Glomerulonephritis, IGA - genetics</topic><topic>Glomerulonephritis, IGA - pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Intensive care medicine</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Prognosis</topic><topic>Proteinuria - genetics</topic><topic>Proteinuria - pathology</topic><topic>Retrospective Studies</topic><topic>Survival Rate</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BERTINETTO, Francesca Eleonora</creatorcontrib><creatorcontrib>CALAFELL, Francesc</creatorcontrib><creatorcontrib>PAOLO SCHENA, Francesco</creatorcontrib><creatorcontrib>AMOROSO, Antonio</creatorcontrib><creatorcontrib>ROGGERO, Stefano</creatorcontrib><creatorcontrib>CHIDICHIMO, Rossella</creatorcontrib><creatorcontrib>GARINO, Elena</creatorcontrib><creatorcontrib>MARCUCCIO, Cristina</creatorcontrib><creatorcontrib>COPPO, Rosanna</creatorcontrib><creatorcontrib>SCOLARI, Francesco</creatorcontrib><creatorcontrib>FRASCA, Giovanni Maria</creatorcontrib><creatorcontrib>SAVOIDL, Silvana</creatorcontrib><creatorcontrib>European IgA Nephropathy Consortium</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>Nephrology, dialysis, transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BERTINETTO, Francesca Eleonora</au><au>CALAFELL, Francesc</au><au>PAOLO SCHENA, Francesco</au><au>AMOROSO, Antonio</au><au>ROGGERO, Stefano</au><au>CHIDICHIMO, Rossella</au><au>GARINO, Elena</au><au>MARCUCCIO, Cristina</au><au>COPPO, Rosanna</au><au>SCOLARI, Francesco</au><au>FRASCA, Giovanni Maria</au><au>SAVOIDL, Silvana</au><aucorp>European IgA Nephropathy Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3</atitle><jtitle>Nephrology, dialysis, transplantation</jtitle><addtitle>Nephrol Dial Transplant</addtitle><date>2012-06-01</date><risdate>2012</risdate><volume>27</volume><issue>6</issue><spage>2328</spage><epage>2337</epage><pages>2328-2337</pages><issn>0931-0509</issn><eissn>1460-2385</eissn><coden>NDTREA</coden><abstract>IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN.
In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina).
C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged <27 years). Furthermore, rs7873784 in TLR4 showed an association with proteinuria (G allele: P = 0.0091; GG genotype: P = 0.0077).
Age and gender are likely to evidence distinct immunological and inflammatory reactions leading to individual susceptibility to IgAN. Overall, a genetic predisposition to sporadic IgAN was found. We might hypothesize that C1GALT1 and TLR4 polymorphisms influence the risk to develop IgAN and proteinuria, respectively.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>22131235</pmid><doi>10.1093/ndt/gfr633</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Aged Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences Biomarkers - analysis Case-Control Studies Child Child, Preschool Chromosome Mapping Emergency and intensive care: renal failure. Dialysis management Female Genetic Linkage Genetic Predisposition to Disease Genotype Glomerulonephritis Glomerulonephritis, IGA - genetics Glomerulonephritis, IGA - pathology Humans Infant Intensive care medicine Male Medical sciences Middle Aged Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Polymorphism, Single Nucleotide - genetics Prognosis Proteinuria - genetics Proteinuria - pathology Retrospective Studies Survival Rate Young Adult |
| title | Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3 |
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