Autoimmune thyroid disease susceptibility loci in a large Chinese family
Summary objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposi...
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| Veröffentlicht in: | Clinical endocrinology (Oxford) 2002-01, Vol.56 (1), p.45-51 |
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| creator | Villanueva, R. Tomer, Y. Greenberg, D. A. Mao, C. Concepcion, E. S. Tucci, S. Estilo, G. Davies, T. F. |
| description | Summary
objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD.
patients We completed a whole genome screen of a large multiplex Chinese–American family. We enrolled 27 family members from three generations. Eight members were affected with AITD, six had GD and two had HT.
design We determined the information limits of the family. Power calculations indicated that the maximum attainable LOD scores were 5·1 assuming dominant inheritance, and 3·4 assuming recessive inheritance. These estimates both assumed 100% penetrance and one gene. Whole genome screening was performed using 400 highly polymorphic and densely spaced microsatellite markers spanning the entire human genome (intermarker distance |
| doi_str_mv | 10.1046/j0300-0664.2001.01429.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_71495024</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>107091606</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4579-4d77cae8ec094d58a170e20706544098e9a80c1b21e90374b8fc04dab156cba73</originalsourceid><addsrcrecordid>eNqNkMtu1DAUQC0EokPhFyBCgl2G6_gtsSnTdgpUZcNjaTmOQz04yWAnYvL3eDqjVmLFyndxzvXVQegVhiUGyt9tgACUwDldVgB4CZhWarl7hBaYcFZWFWeP0eIeOkHPUtoAAJMgnqITjCVVFeULdHU2jYPvuql3xXg7x8E3ReOTM8kVaUrWbUdf--DHuQiD9YXvC1MEE3-6YnXre5ex1nQ-zM_Rk9aE5F4c31P07fLi6-qqvP6y_rg6uy4tZUKVtBHCGiedBUUbJg0W4CoQwBmloKRTRoLFdYWdAiJoLVsLtDE1ZtzWRpBT9PawdxuH35NLo-58PjME07thSlpgqhhUNIOv_wE3wxT7fJvGSgpFQLIMiQNk45BSdK3eRt-ZOGsMel9a35XW-4h6X1rflda7bL48rp_qzjUP3jFtBt4cAZOsCW00vfXpgSOcKAUyc-8P3B8f3Py__-vVxc1-ynp50H0a3e5eN_GX5oIIpn_crPX380_n7PP6g74kfwHf06aH</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>198793085</pqid></control><display><type>article</type><title>Autoimmune thyroid disease susceptibility loci in a large Chinese family</title><source>MEDLINE</source><source>Wiley Online Library Journals</source><creator>Villanueva, R. ; Tomer, Y. ; Greenberg, D. A. ; Mao, C. ; Concepcion, E. S. ; Tucci, S. ; Estilo, G. ; Davies, T. F.</creator><creatorcontrib>Villanueva, R. ; Tomer, Y. ; Greenberg, D. A. ; Mao, C. ; Concepcion, E. S. ; Tucci, S. ; Estilo, G. ; Davies, T. F.</creatorcontrib><description>Summary
objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD.
patients We completed a whole genome screen of a large multiplex Chinese–American family. We enrolled 27 family members from three generations. Eight members were affected with AITD, six had GD and two had HT.
design We determined the information limits of the family. Power calculations indicated that the maximum attainable LOD scores were 5·1 assuming dominant inheritance, and 3·4 assuming recessive inheritance. These estimates both assumed 100% penetrance and one gene. Whole genome screening was performed using 400 highly polymorphic and densely spaced microsatellite markers spanning the entire human genome (intermarker distance < 10 cM). Linkage analysis was performed using two‐point and multipoint parametric and nonparametric methods.
results Initial whole genome screening performed with 400 microsatellite markers identified two markers that showed evidence for linkage to AITD in this family, D11S4191 and D9S175, with two‐point LOD scores of 2·31 and 2·05, respectively. Multipoint linkage analysis focusing on the regions containing these markers revealed a maximum multipoint LOD score (MLS) of 2·13 and a nonparametric linkage score (NPL) of 6·1 for D11S4191 and an MLS of 2·01 and NPL of 7·5 for D9S175.
conclusions These results showed that this Chinese family harboured susceptibility loci for AITD which were distinct from those previously found in the Caucasian population. This suggests that different susceptibility loci exist between different ethnic groups. Furthermore, even within a single family from a genetically homogenous population, more than one gene was involved in the genetic susceptibility to AITD, supporting the notion that AITDs are caused by multiple genes of varying influences.</description><identifier>ISSN: 0300-0664</identifier><identifier>EISSN: 1365-2265</identifier><identifier>DOI: 10.1046/j0300-0664.2001.01429.x</identifier><identifier>PMID: 11849246</identifier><identifier>CODEN: CLECAP</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; China - ethnology ; Endocrinopathies ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; Graves Disease - ethnology ; Graves Disease - genetics ; Humans ; Male ; Malignant tumors ; Medical sciences ; Microsatellite Repeats ; Middle Aged ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Pedigree ; Thyroid. Thyroid axis (diseases) ; Thyroiditis, Autoimmune - ethnology ; Thyroiditis, Autoimmune - genetics ; United States</subject><ispartof>Clinical endocrinology (Oxford), 2002-01, Vol.56 (1), p.45-51</ispartof><rights>2002 INIST-CNRS</rights><rights>Copyright Blackwell Scientific Publications Ltd. Jan 2002</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4579-4d77cae8ec094d58a170e20706544098e9a80c1b21e90374b8fc04dab156cba73</citedby><cites>FETCH-LOGICAL-c4579-4d77cae8ec094d58a170e20706544098e9a80c1b21e90374b8fc04dab156cba73</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj0300-0664.2001.01429.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj0300-0664.2001.01429.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,4025,27925,27926,27927,45576,45577</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13639908$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11849246$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Villanueva, R.</creatorcontrib><creatorcontrib>Tomer, Y.</creatorcontrib><creatorcontrib>Greenberg, D. A.</creatorcontrib><creatorcontrib>Mao, C.</creatorcontrib><creatorcontrib>Concepcion, E. S.</creatorcontrib><creatorcontrib>Tucci, S.</creatorcontrib><creatorcontrib>Estilo, G.</creatorcontrib><creatorcontrib>Davies, T. F.</creatorcontrib><title>Autoimmune thyroid disease susceptibility loci in a large Chinese family</title><title>Clinical endocrinology (Oxford)</title><addtitle>Clin Endocrinol (Oxf)</addtitle><description>Summary
objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD.
patients We completed a whole genome screen of a large multiplex Chinese–American family. We enrolled 27 family members from three generations. Eight members were affected with AITD, six had GD and two had HT.
design We determined the information limits of the family. Power calculations indicated that the maximum attainable LOD scores were 5·1 assuming dominant inheritance, and 3·4 assuming recessive inheritance. These estimates both assumed 100% penetrance and one gene. Whole genome screening was performed using 400 highly polymorphic and densely spaced microsatellite markers spanning the entire human genome (intermarker distance < 10 cM). Linkage analysis was performed using two‐point and multipoint parametric and nonparametric methods.
results Initial whole genome screening performed with 400 microsatellite markers identified two markers that showed evidence for linkage to AITD in this family, D11S4191 and D9S175, with two‐point LOD scores of 2·31 and 2·05, respectively. Multipoint linkage analysis focusing on the regions containing these markers revealed a maximum multipoint LOD score (MLS) of 2·13 and a nonparametric linkage score (NPL) of 6·1 for D11S4191 and an MLS of 2·01 and NPL of 7·5 for D9S175.
conclusions These results showed that this Chinese family harboured susceptibility loci for AITD which were distinct from those previously found in the Caucasian population. This suggests that different susceptibility loci exist between different ethnic groups. Furthermore, even within a single family from a genetically homogenous population, more than one gene was involved in the genetic susceptibility to AITD, supporting the notion that AITDs are caused by multiple genes of varying influences.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>China - ethnology</subject><subject>Endocrinopathies</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease</subject><subject>Graves Disease - ethnology</subject><subject>Graves Disease - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Malignant tumors</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Middle Aged</subject><subject>Non tumoral diseases. Target tissue resistance. Benign neoplasms</subject><subject>Pedigree</subject><subject>Thyroid. Thyroid axis (diseases)</subject><subject>Thyroiditis, Autoimmune - ethnology</subject><subject>Thyroiditis, Autoimmune - genetics</subject><subject>United States</subject><issn>0300-0664</issn><issn>1365-2265</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMtu1DAUQC0EokPhFyBCgl2G6_gtsSnTdgpUZcNjaTmOQz04yWAnYvL3eDqjVmLFyndxzvXVQegVhiUGyt9tgACUwDldVgB4CZhWarl7hBaYcFZWFWeP0eIeOkHPUtoAAJMgnqITjCVVFeULdHU2jYPvuql3xXg7x8E3ReOTM8kVaUrWbUdf--DHuQiD9YXvC1MEE3-6YnXre5ex1nQ-zM_Rk9aE5F4c31P07fLi6-qqvP6y_rg6uy4tZUKVtBHCGiedBUUbJg0W4CoQwBmloKRTRoLFdYWdAiJoLVsLtDE1ZtzWRpBT9PawdxuH35NLo-58PjME07thSlpgqhhUNIOv_wE3wxT7fJvGSgpFQLIMiQNk45BSdK3eRt-ZOGsMel9a35XW-4h6X1rflda7bL48rp_qzjUP3jFtBt4cAZOsCW00vfXpgSOcKAUyc-8P3B8f3Py__-vVxc1-ynp50H0a3e5eN_GX5oIIpn_crPX380_n7PP6g74kfwHf06aH</recordid><startdate>200201</startdate><enddate>200201</enddate><creator>Villanueva, R.</creator><creator>Tomer, Y.</creator><creator>Greenberg, D. A.</creator><creator>Mao, C.</creator><creator>Concepcion, E. S.</creator><creator>Tucci, S.</creator><creator>Estilo, G.</creator><creator>Davies, T. F.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><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>7QP</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>200201</creationdate><title>Autoimmune thyroid disease susceptibility loci in a large Chinese family</title><author>Villanueva, R. ; Tomer, Y. ; Greenberg, D. A. ; Mao, C. ; Concepcion, E. S. ; Tucci, S. ; Estilo, G. ; Davies, T. F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4579-4d77cae8ec094d58a170e20706544098e9a80c1b21e90374b8fc04dab156cba73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>China - ethnology</topic><topic>Endocrinopathies</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease</topic><topic>Graves Disease - ethnology</topic><topic>Graves Disease - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Malignant tumors</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Middle Aged</topic><topic>Non tumoral diseases. Target tissue resistance. Benign neoplasms</topic><topic>Pedigree</topic><topic>Thyroid. Thyroid axis (diseases)</topic><topic>Thyroiditis, Autoimmune - ethnology</topic><topic>Thyroiditis, Autoimmune - genetics</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Villanueva, R.</creatorcontrib><creatorcontrib>Tomer, Y.</creatorcontrib><creatorcontrib>Greenberg, D. A.</creatorcontrib><creatorcontrib>Mao, C.</creatorcontrib><creatorcontrib>Concepcion, E. S.</creatorcontrib><creatorcontrib>Tucci, S.</creatorcontrib><creatorcontrib>Estilo, G.</creatorcontrib><creatorcontrib>Davies, T. F.</creatorcontrib><collection>Istex</collection><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>Calcium & Calcified Tissue Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical endocrinology (Oxford)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Villanueva, R.</au><au>Tomer, Y.</au><au>Greenberg, D. A.</au><au>Mao, C.</au><au>Concepcion, E. S.</au><au>Tucci, S.</au><au>Estilo, G.</au><au>Davies, T. F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autoimmune thyroid disease susceptibility loci in a large Chinese family</atitle><jtitle>Clinical endocrinology (Oxford)</jtitle><addtitle>Clin Endocrinol (Oxf)</addtitle><date>2002-01</date><risdate>2002</risdate><volume>56</volume><issue>1</issue><spage>45</spage><epage>51</epage><pages>45-51</pages><issn>0300-0664</issn><eissn>1365-2265</eissn><coden>CLECAP</coden><abstract>Summary
objectives The autoimmune thyroid diseases (AITDs) comprising Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are complex genetic diseases, which result from an interaction between predisposing genes and environmental triggers. The aim of our study was to dissect the genetic predisposition to GD and HT in one large Chinese family with multiple members affected with AITD.
patients We completed a whole genome screen of a large multiplex Chinese–American family. We enrolled 27 family members from three generations. Eight members were affected with AITD, six had GD and two had HT.
design We determined the information limits of the family. Power calculations indicated that the maximum attainable LOD scores were 5·1 assuming dominant inheritance, and 3·4 assuming recessive inheritance. These estimates both assumed 100% penetrance and one gene. Whole genome screening was performed using 400 highly polymorphic and densely spaced microsatellite markers spanning the entire human genome (intermarker distance < 10 cM). Linkage analysis was performed using two‐point and multipoint parametric and nonparametric methods.
results Initial whole genome screening performed with 400 microsatellite markers identified two markers that showed evidence for linkage to AITD in this family, D11S4191 and D9S175, with two‐point LOD scores of 2·31 and 2·05, respectively. Multipoint linkage analysis focusing on the regions containing these markers revealed a maximum multipoint LOD score (MLS) of 2·13 and a nonparametric linkage score (NPL) of 6·1 for D11S4191 and an MLS of 2·01 and NPL of 7·5 for D9S175.
conclusions These results showed that this Chinese family harboured susceptibility loci for AITD which were distinct from those previously found in the Caucasian population. This suggests that different susceptibility loci exist between different ethnic groups. Furthermore, even within a single family from a genetically homogenous population, more than one gene was involved in the genetic susceptibility to AITD, supporting the notion that AITDs are caused by multiple genes of varying influences.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>11849246</pmid><doi>10.1046/j0300-0664.2001.01429.x</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Adult Biological and medical sciences China - ethnology Endocrinopathies Female Genetic Linkage Genetic Predisposition to Disease Graves Disease - ethnology Graves Disease - genetics Humans Male Malignant tumors Medical sciences Microsatellite Repeats Middle Aged Non tumoral diseases. Target tissue resistance. Benign neoplasms Pedigree Thyroid. Thyroid axis (diseases) Thyroiditis, Autoimmune - ethnology Thyroiditis, Autoimmune - genetics United States |
| title | Autoimmune thyroid disease susceptibility loci in a large Chinese family |
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