Manic depressive illness in a founder population
Manic depressive illness (MDI) segregates within a founder population originating from S, a mountain village in Southern Italy. Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole populat...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2003-08, Vol.11 (8), p.597-602 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Heyer, Evelyne Toupance, Bruno Perri, Cesare De Vito, Ornella Foncin, Jean-François Cecilia Bruni, Amalia |
| description | Manic depressive illness (MDI) segregates within a founder population originating from S, a mountain village in Southern Italy. Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole population of S in the 17th and 18th centuries, and part of the population of S and neighbouring villages in the 19th and 20th centuries. We selected 10 MDI probands who were members of the S population and not evident close relatives of each other. A total of 10 other MDI probands not evidently related to the S population formed a first control group. A second control group was formed with 10 not closely related persons originating within the S population. We determined the founders common ancestors to all the probands of one group but not ancestors to the probands of other groups, and computed the genetic contribution of each founder to each proband. The distance between probands in the S MDI group was calculated with respect to all the founders. In all, 17 founders present in the ascendancy of all individuals of the S MDI group are not present in the ascendancy of the control groups: MDI patients are derived from a subpopulation within S. Two S MDI probands are far from one another in respect of the ‘nonspecific’ founders, but are very close in respect of the specific founders: a putative MDI trait originated from specific founders of the MDI subpopulation, and hence is identical by descent in the S population. |
| doi_str_mv | 10.1038/sj.ejhg.5201001 |
| format | Article |
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Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole population of S in the 17th and 18th centuries, and part of the population of S and neighbouring villages in the 19th and 20th centuries. We selected 10 MDI probands who were members of the S population and not evident close relatives of each other. A total of 10 other MDI probands not evidently related to the S population formed a first control group. A second control group was formed with 10 not closely related persons originating within the S population. We determined the founders common ancestors to all the probands of one group but not ancestors to the probands of other groups, and computed the genetic contribution of each founder to each proband. The distance between probands in the S MDI group was calculated with respect to all the founders. In all, 17 founders present in the ascendancy of all individuals of the S MDI group are not present in the ascendancy of the control groups: MDI patients are derived from a subpopulation within S. Two S MDI probands are far from one another in respect of the ‘nonspecific’ founders, but are very close in respect of the specific founders: a putative MDI trait originated from specific founders of the MDI subpopulation, and hence is identical by descent in the S population.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/sj.ejhg.5201001</identifier><identifier>PMID: 12891380</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Adult and adolescent clinical studies ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Bipolar Disorder ; Bipolar Disorder - ethnology ; Bipolar Disorder - genetics ; Cloning ; Cytogenetics ; Depression ; Founder Effect ; Gene Expression ; Genes ; Genetics ; Genetics, Population ; Genetics, Population - methods ; Human Genetics ; Humans ; Illnesses ; Inbreeding ; Italy ; Italy - ethnology ; Life Sciences ; Manic depressive illness ; Medical sciences ; Mood disorders ; Mutation ; Pedigree ; Population genetics ; Populations and Evolution ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Studies</subject><ispartof>European journal of human genetics : EJHG, 2003-08, Vol.11 (8), p.597-602</ispartof><rights>Springer Nature Switzerland AG 2003</rights><rights>2003 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Aug 2003</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c497t-dd86aad276518ac98f86cd76c53252481dbf60c78f8b146de088b9e0c64cd0523</citedby><cites>FETCH-LOGICAL-c497t-dd86aad276518ac98f86cd76c53252481dbf60c78f8b146de088b9e0c64cd0523</cites><orcidid>0000-0002-8244-1824 ; 0000-0002-0266-3196</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.ejhg.5201001$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.ejhg.5201001$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15001281$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12891380$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-00480601$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Heyer, Evelyne</creatorcontrib><creatorcontrib>Toupance, Bruno</creatorcontrib><creatorcontrib>Perri, Cesare</creatorcontrib><creatorcontrib>De Vito, Ornella</creatorcontrib><creatorcontrib>Foncin, Jean-François</creatorcontrib><creatorcontrib>Cecilia Bruni, Amalia</creatorcontrib><title>Manic depressive illness in a founder population</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>Manic depressive illness (MDI) segregates within a founder population originating from S, a mountain village in Southern Italy. Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole population of S in the 17th and 18th centuries, and part of the population of S and neighbouring villages in the 19th and 20th centuries. We selected 10 MDI probands who were members of the S population and not evident close relatives of each other. A total of 10 other MDI probands not evidently related to the S population formed a first control group. A second control group was formed with 10 not closely related persons originating within the S population. We determined the founders common ancestors to all the probands of one group but not ancestors to the probands of other groups, and computed the genetic contribution of each founder to each proband. The distance between probands in the S MDI group was calculated with respect to all the founders. In all, 17 founders present in the ascendancy of all individuals of the S MDI group are not present in the ascendancy of the control groups: MDI patients are derived from a subpopulation within S. Two S MDI probands are far from one another in respect of the ‘nonspecific’ founders, but are very close in respect of the specific founders: a putative MDI trait originated from specific founders of the MDI subpopulation, and hence is identical by descent in the S population.</description><subject>Adult and adolescent clinical studies</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Bipolar Disorder</subject><subject>Bipolar Disorder - ethnology</subject><subject>Bipolar Disorder - genetics</subject><subject>Cloning</subject><subject>Cytogenetics</subject><subject>Depression</subject><subject>Founder Effect</subject><subject>Gene Expression</subject><subject>Genes</subject><subject>Genetics</subject><subject>Genetics, Population</subject><subject>Genetics, Population - methods</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Illnesses</subject><subject>Inbreeding</subject><subject>Italy</subject><subject>Italy - ethnology</subject><subject>Life Sciences</subject><subject>Manic depressive illness</subject><subject>Medical sciences</subject><subject>Mood disorders</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Population genetics</subject><subject>Populations and Evolution</subject><subject>Psychology. 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Psychiatry</subject><subject>Studies</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc1r3DAQxUVpadK0596KKbTQgzczsr58DKFtAltySc9CK8mJjFd2pXWg_3212HShUHKaYfSbN088Qt4jbBAadZn7je8fHzacAgLgC3KOTIqas0a9LD2gqpnC5oy8ybkvAJMSX5MzpKrFRsE5gR8mBls5PyWfc3jyVRiGWNoqxMpU3ThH51M1jdM8mEMY41vyqjND9u_WekF-fvt6f31Tb---315fbWvLWnmonVPCGEel4KiMbVWnhHVSWN5QTosnt-sEWFnmO2TCeVBq13qwglkHnDYX5Mui-2gGPaWwN-m3Hk3QN1dbfZwBMAUC8AkL-3lhpzT-mn0-6H3I1g-DiX6cs5YNh4a39FkQW5SM8raAH_8B-3FOsXxYU5SKwWLxcoFsGnNOvvvrE0Ef49G518d49BpP2fiwys67vXcnfs2jAJ9WwGRrhi6ZaEM-cbyoUHUUgoXL5Sk--HTy97_bfwAKq6Y3</recordid><startdate>20030801</startdate><enddate>20030801</enddate><creator>Heyer, Evelyne</creator><creator>Toupance, Bruno</creator><creator>Perri, Cesare</creator><creator>De Vito, Ornella</creator><creator>Foncin, Jean-François</creator><creator>Cecilia Bruni, Amalia</creator><general>Springer International Publishing</general><general>Nature Publishing</general><general>Nature Publishing Group</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</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>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-8244-1824</orcidid><orcidid>https://orcid.org/0000-0002-0266-3196</orcidid></search><sort><creationdate>20030801</creationdate><title>Manic depressive illness in a founder population</title><author>Heyer, Evelyne ; Toupance, Bruno ; Perri, Cesare ; De Vito, Ornella ; Foncin, Jean-François ; Cecilia Bruni, Amalia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c497t-dd86aad276518ac98f86cd76c53252481dbf60c78f8b146de088b9e0c64cd0523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult and adolescent clinical studies</topic><topic>Bioinformatics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Bipolar Disorder</topic><topic>Bipolar Disorder - ethnology</topic><topic>Bipolar Disorder - genetics</topic><topic>Cloning</topic><topic>Cytogenetics</topic><topic>Depression</topic><topic>Founder Effect</topic><topic>Gene Expression</topic><topic>Genes</topic><topic>Genetics</topic><topic>Genetics, Population</topic><topic>Genetics, Population - methods</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Illnesses</topic><topic>Inbreeding</topic><topic>Italy</topic><topic>Italy - ethnology</topic><topic>Life Sciences</topic><topic>Manic depressive illness</topic><topic>Medical sciences</topic><topic>Mood disorders</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Population genetics</topic><topic>Populations and Evolution</topic><topic>Psychology. 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Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole population of S in the 17th and 18th centuries, and part of the population of S and neighbouring villages in the 19th and 20th centuries. We selected 10 MDI probands who were members of the S population and not evident close relatives of each other. A total of 10 other MDI probands not evidently related to the S population formed a first control group. A second control group was formed with 10 not closely related persons originating within the S population. We determined the founders common ancestors to all the probands of one group but not ancestors to the probands of other groups, and computed the genetic contribution of each founder to each proband. The distance between probands in the S MDI group was calculated with respect to all the founders. In all, 17 founders present in the ascendancy of all individuals of the S MDI group are not present in the ascendancy of the control groups: MDI patients are derived from a subpopulation within S. Two S MDI probands are far from one another in respect of the ‘nonspecific’ founders, but are very close in respect of the specific founders: a putative MDI trait originated from specific founders of the MDI subpopulation, and hence is identical by descent in the S population.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>12891380</pmid><doi>10.1038/sj.ejhg.5201001</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-8244-1824</orcidid><orcidid>https://orcid.org/0000-0002-0266-3196</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Adult and adolescent clinical studies Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Bipolar Disorder Bipolar Disorder - ethnology Bipolar Disorder - genetics Cloning Cytogenetics Depression Founder Effect Gene Expression Genes Genetics Genetics, Population Genetics, Population - methods Human Genetics Humans Illnesses Inbreeding Italy Italy - ethnology Life Sciences Manic depressive illness Medical sciences Mood disorders Mutation Pedigree Population genetics Populations and Evolution Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Studies |
| title | Manic depressive illness in a founder population |
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