Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation
Calcium is the principal crystalline constituent in up to 80% of kidney stones. Epidemiologic studies have suggested that genetic predisposition plays a major role in the etiology of this condition. This study evaluates by a candidate-gene approach whether the vitamin D receptor (VDR) locus on chrom...
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| Veröffentlicht in: | Journal of the American Society of Nephrology 1999-05, Vol.10 (5), p.1007-1013 |
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| container_title | Journal of the American Society of Nephrology |
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| creator | SCOTT, P OUIMET, D VALIQUETTE, L GUAY, G PROULX, Y TROUVE, M.-L GAGNON, B BONNARDEAUX, A |
| description | Calcium is the principal crystalline constituent in up to 80% of kidney stones. Epidemiologic studies have suggested that genetic predisposition plays a major role in the etiology of this condition. This study evaluates by a candidate-gene approach whether the vitamin D receptor (VDR) locus on chromosome 12q12-14 is implicated in idiopathic hypercalciuria and calcium nephrolithiasis in a cohort of 47 French Canadian pedigrees. These comprised 54 sibships with a total of 303 pairs of siblings concordant for > or =1 stone episode. Evidence is provided for linkage to nephrolithiasis with microsatellite marker D12S339 (near the VDR locus, P = 0.01), as well as with flanking markers (D12S1663: P = 0.03 and D12S368: P = 0.01). Inclusion of unaffected sibs in the analyses also supported evidence for linkage. Quantitative trait linkage analysis of urinary calcium excretion yielded linkage to some, but not all, markers. This appears to be the first study to suggest linkage for idiopathic calcium stone formation. |
| doi_str_mv | 10.1681/ASN.V1051007 |
| format | Article |
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Epidemiologic studies have suggested that genetic predisposition plays a major role in the etiology of this condition. This study evaluates by a candidate-gene approach whether the vitamin D receptor (VDR) locus on chromosome 12q12-14 is implicated in idiopathic hypercalciuria and calcium nephrolithiasis in a cohort of 47 French Canadian pedigrees. These comprised 54 sibships with a total of 303 pairs of siblings concordant for > or =1 stone episode. Evidence is provided for linkage to nephrolithiasis with microsatellite marker D12S339 (near the VDR locus, P = 0.01), as well as with flanking markers (D12S1663: P = 0.03 and D12S368: P = 0.01). Inclusion of unaffected sibs in the analyses also supported evidence for linkage. Quantitative trait linkage analysis of urinary calcium excretion yielded linkage to some, but not all, markers. This appears to be the first study to suggest linkage for idiopathic calcium stone formation.</description><identifier>ISSN: 1046-6673</identifier><identifier>EISSN: 1533-3450</identifier><identifier>DOI: 10.1681/ASN.V1051007</identifier><identifier>PMID: 10232686</identifier><identifier>CODEN: JASNEU</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Adult ; Base Sequence - genetics ; Biological and medical sciences ; Chromosome Mapping ; Exons - genetics ; Female ; Genetic Linkage - genetics ; Genetic Predisposition to Disease - genetics ; Humans ; Kidney Calculi - genetics ; Male ; Medical sciences ; Middle Aged ; Nephrology. Urinary tract diseases ; Phenotype ; Polymorphism, Genetic - genetics ; Polymorphism, Single-Stranded Conformational ; Quantitative Trait, Heritable ; Receptors, Calcitriol - genetics ; Urinary lithiasis</subject><ispartof>Journal of the American Society of Nephrology, 1999-05, Vol.10 (5), p.1007-1013</ispartof><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c354t-2024cff8a051f1fe7aca8d41557dbe80e8f180918f51c41515643b85659f5e813</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1781339$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10232686$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SCOTT, P</creatorcontrib><creatorcontrib>OUIMET, D</creatorcontrib><creatorcontrib>VALIQUETTE, L</creatorcontrib><creatorcontrib>GUAY, G</creatorcontrib><creatorcontrib>PROULX, Y</creatorcontrib><creatorcontrib>TROUVE, M.-L</creatorcontrib><creatorcontrib>GAGNON, B</creatorcontrib><creatorcontrib>BONNARDEAUX, A</creatorcontrib><title>Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation</title><title>Journal of the American Society of Nephrology</title><addtitle>J Am Soc Nephrol</addtitle><description>Calcium is the principal crystalline constituent in up to 80% of kidney stones. Epidemiologic studies have suggested that genetic predisposition plays a major role in the etiology of this condition. This study evaluates by a candidate-gene approach whether the vitamin D receptor (VDR) locus on chromosome 12q12-14 is implicated in idiopathic hypercalciuria and calcium nephrolithiasis in a cohort of 47 French Canadian pedigrees. These comprised 54 sibships with a total of 303 pairs of siblings concordant for > or =1 stone episode. Evidence is provided for linkage to nephrolithiasis with microsatellite marker D12S339 (near the VDR locus, P = 0.01), as well as with flanking markers (D12S1663: P = 0.03 and D12S368: P = 0.01). Inclusion of unaffected sibs in the analyses also supported evidence for linkage. Quantitative trait linkage analysis of urinary calcium excretion yielded linkage to some, but not all, markers. This appears to be the first study to suggest linkage for idiopathic calcium stone formation.</description><subject>Adult</subject><subject>Base Sequence - genetics</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Genetic Linkage - genetics</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Kidney Calculi - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Quantitative Trait, Heritable</subject><subject>Receptors, Calcitriol - genetics</subject><subject>Urinary lithiasis</subject><issn>1046-6673</issn><issn>1533-3450</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkEtPAyEURonRWK3uXBsWxpVTYRgYumzqM2l0UXU7YZhLi5lHBaZJ_73U1ujqkpvDl_sdhC4oGVEh6e1k_jL6oIRTQvIDdEI5YwnLODmMb5KJRIicDdCp95-EUJ7m-TEaUJKyVEhxgvp5v1iAD3YNGNa2glYDNp3DCvvea1gFW9rahg1eQAu4BeVwWAJe26Aa2-I77GBLxR91p3uP485WtlupsLQaa1Vr2zfYh679yW1UsF17ho6Mqj2c7-cQvT_cv02fktnr4_N0Mks041lIUpJm2hipYjtDDeRKK1lllPO8KkESkIZKMqbScKrjmnKRsVJywceGg6RsiK53uSvXffWxZtHYWKquVQtd7wsxzhkTmYzgzQ7UrvPegSlWzjbKbQpKiq3mImoufjVH_HKf25cNVP_gndcIXO0B5aMD41Srrf_j8ngcG7NvNaWGEQ</recordid><startdate>19990501</startdate><enddate>19990501</enddate><creator>SCOTT, P</creator><creator>OUIMET, D</creator><creator>VALIQUETTE, L</creator><creator>GUAY, G</creator><creator>PROULX, Y</creator><creator>TROUVE, M.-L</creator><creator>GAGNON, B</creator><creator>BONNARDEAUX, A</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>19990501</creationdate><title>Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation</title><author>SCOTT, P ; OUIMET, D ; VALIQUETTE, L ; GUAY, G ; PROULX, Y ; TROUVE, M.-L ; GAGNON, B ; BONNARDEAUX, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c354t-2024cff8a051f1fe7aca8d41557dbe80e8f180918f51c41515643b85659f5e813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Base Sequence - genetics</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Genetic Linkage - genetics</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Kidney Calculi - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Phenotype</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Quantitative Trait, Heritable</topic><topic>Receptors, Calcitriol - genetics</topic><topic>Urinary lithiasis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SCOTT, P</creatorcontrib><creatorcontrib>OUIMET, D</creatorcontrib><creatorcontrib>VALIQUETTE, L</creatorcontrib><creatorcontrib>GUAY, G</creatorcontrib><creatorcontrib>PROULX, Y</creatorcontrib><creatorcontrib>TROUVE, M.-L</creatorcontrib><creatorcontrib>GAGNON, B</creatorcontrib><creatorcontrib>BONNARDEAUX, A</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>Journal of the American Society of Nephrology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SCOTT, P</au><au>OUIMET, D</au><au>VALIQUETTE, L</au><au>GUAY, G</au><au>PROULX, Y</au><au>TROUVE, M.-L</au><au>GAGNON, B</au><au>BONNARDEAUX, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation</atitle><jtitle>Journal of the American Society of Nephrology</jtitle><addtitle>J Am Soc Nephrol</addtitle><date>1999-05-01</date><risdate>1999</risdate><volume>10</volume><issue>5</issue><spage>1007</spage><epage>1013</epage><pages>1007-1013</pages><issn>1046-6673</issn><eissn>1533-3450</eissn><coden>JASNEU</coden><abstract>Calcium is the principal crystalline constituent in up to 80% of kidney stones. Epidemiologic studies have suggested that genetic predisposition plays a major role in the etiology of this condition. This study evaluates by a candidate-gene approach whether the vitamin D receptor (VDR) locus on chromosome 12q12-14 is implicated in idiopathic hypercalciuria and calcium nephrolithiasis in a cohort of 47 French Canadian pedigrees. These comprised 54 sibships with a total of 303 pairs of siblings concordant for > or =1 stone episode. Evidence is provided for linkage to nephrolithiasis with microsatellite marker D12S339 (near the VDR locus, P = 0.01), as well as with flanking markers (D12S1663: P = 0.03 and D12S368: P = 0.01). Inclusion of unaffected sibs in the analyses also supported evidence for linkage. Quantitative trait linkage analysis of urinary calcium excretion yielded linkage to some, but not all, markers. This appears to be the first study to suggest linkage for idiopathic calcium stone formation.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>10232686</pmid><doi>10.1681/ASN.V1051007</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of the American Society of Nephrology, 1999-05, Vol.10 (5), p.1007-1013 |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Adult Base Sequence - genetics Biological and medical sciences Chromosome Mapping Exons - genetics Female Genetic Linkage - genetics Genetic Predisposition to Disease - genetics Humans Kidney Calculi - genetics Male Medical sciences Middle Aged Nephrology. Urinary tract diseases Phenotype Polymorphism, Genetic - genetics Polymorphism, Single-Stranded Conformational Quantitative Trait, Heritable Receptors, Calcitriol - genetics Urinary lithiasis |
| title | Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation |
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