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Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics
To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period. In...
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| Published in: | Croatian medical journal 2009-02, Vol.50 (1), p.34-42 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| container_title | Croatian medical journal |
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| creator | Biloglav, Zrinka Zgaga, Lina Smoljanović, Mladen Hayward, Caroline Polasek, Ozren Kolcić, Ivana Vitart, Veronique Zemunik, Tatijana Boraska, Vesna Torlak, Vesela Mulić, Rosanda Ropac, Darko Grković, Ivica Rudan, Diana Ristić, Smiljana Barbalić, Maja Campbell, Harry Wright, Alan F Rudan, Igor |
| description | To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period.
In 2002, DNA analysis of 100 randomly selected individuals from each of the 10 isolated communities of 5 Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed high levels of 3-generational endogamy, indicating limited gene flow. Five of the communities were decimated by epidemics of unknown cause between 1449-1456, while the other 5 villages remained unaffected. Genotyping of the CCR5 gene was performed using the polymerase chain reaction method with primers flanking the region containing 32-bp deletion.
The frequency of CCR5Delta32 in the 5 villages affected by the epidemic was 6.1-10.0%, and 1.0-3.8% in the 5 unaffected villages. The Delta32 mutation was found in 71 of 916 alleles among the individuals from the affected villages (7.5%), and in 24 of 968 alleles in unaffected villages (2.5%, chi(2)=27.3, P |
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In 2002, DNA analysis of 100 randomly selected individuals from each of the 10 isolated communities of 5 Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed high levels of 3-generational endogamy, indicating limited gene flow. Five of the communities were decimated by epidemics of unknown cause between 1449-1456, while the other 5 villages remained unaffected. Genotyping of the CCR5 gene was performed using the polymerase chain reaction method with primers flanking the region containing 32-bp deletion.
The frequency of CCR5Delta32 in the 5 villages affected by the epidemic was 6.1-10.0%, and 1.0-3.8% in the 5 unaffected villages. The Delta32 mutation was found in 71 of 916 alleles among the individuals from the affected villages (7.5%), and in 24 of 968 alleles in unaffected villages (2.5%, chi(2)=27.3, P<10-6). A previous study in 303 random Croatian blood donors showed the frequency of the CCR5 Delta32 of 7.1% in the general population. The difference remained significant after correcting for population structure using both STRAT and STRUCTURE software and the genomic control test, to ensure results do not arise from the background genetic differences.
Our results and historical evidence, suggest that the mid-15th century epidemic could have acted as a selection pressure for the CCR5Delta32 mutation.</description><identifier>EISSN: 1332-8166</identifier><identifier>PMID: 19260142</identifier><language>eng</language><publisher>Croatia</publisher><subject>Croatia - epidemiology ; Demography ; Gene Frequency ; Genetics, Population ; Geography ; History, 15th Century ; History, 16th Century ; History, 17th Century ; History, 18th Century ; History, Medieval ; HIV Infections - genetics ; Humans ; Plague - epidemiology ; Plague - genetics ; Plague - history ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Receptors, CCR5 - genetics</subject><ispartof>Croatian medical journal, 2009-02, Vol.50 (1), p.34-42</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19260142$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Biloglav, Zrinka</creatorcontrib><creatorcontrib>Zgaga, Lina</creatorcontrib><creatorcontrib>Smoljanović, Mladen</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Polasek, Ozren</creatorcontrib><creatorcontrib>Kolcić, Ivana</creatorcontrib><creatorcontrib>Vitart, Veronique</creatorcontrib><creatorcontrib>Zemunik, Tatijana</creatorcontrib><creatorcontrib>Boraska, Vesna</creatorcontrib><creatorcontrib>Torlak, Vesela</creatorcontrib><creatorcontrib>Mulić, Rosanda</creatorcontrib><creatorcontrib>Ropac, Darko</creatorcontrib><creatorcontrib>Grković, Ivica</creatorcontrib><creatorcontrib>Rudan, Diana</creatorcontrib><creatorcontrib>Ristić, Smiljana</creatorcontrib><creatorcontrib>Barbalić, Maja</creatorcontrib><creatorcontrib>Campbell, Harry</creatorcontrib><creatorcontrib>Wright, Alan F</creatorcontrib><creatorcontrib>Rudan, Igor</creatorcontrib><title>Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics</title><title>Croatian medical journal</title><addtitle>Croat Med J</addtitle><description>To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period.
In 2002, DNA analysis of 100 randomly selected individuals from each of the 10 isolated communities of 5 Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed high levels of 3-generational endogamy, indicating limited gene flow. Five of the communities were decimated by epidemics of unknown cause between 1449-1456, while the other 5 villages remained unaffected. Genotyping of the CCR5 gene was performed using the polymerase chain reaction method with primers flanking the region containing 32-bp deletion.
The frequency of CCR5Delta32 in the 5 villages affected by the epidemic was 6.1-10.0%, and 1.0-3.8% in the 5 unaffected villages. The Delta32 mutation was found in 71 of 916 alleles among the individuals from the affected villages (7.5%), and in 24 of 968 alleles in unaffected villages (2.5%, chi(2)=27.3, P<10-6). A previous study in 303 random Croatian blood donors showed the frequency of the CCR5 Delta32 of 7.1% in the general population. The difference remained significant after correcting for population structure using both STRAT and STRUCTURE software and the genomic control test, to ensure results do not arise from the background genetic differences.
Our results and historical evidence, suggest that the mid-15th century epidemic could have acted as a selection pressure for the CCR5Delta32 mutation.</description><subject>Croatia - epidemiology</subject><subject>Demography</subject><subject>Gene Frequency</subject><subject>Genetics, Population</subject><subject>Geography</subject><subject>History, 15th Century</subject><subject>History, 16th Century</subject><subject>History, 17th Century</subject><subject>History, 18th Century</subject><subject>History, Medieval</subject><subject>HIV Infections - genetics</subject><subject>Humans</subject><subject>Plague - epidemiology</subject><subject>Plague - genetics</subject><subject>Plague - history</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Receptors, CCR5 - genetics</subject><issn>1332-8166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><recordid>eNo1kMtqwzAQRU2hNGnaXyhaddWAXlbsZXEfCQQKJXsjS6NExZZcSS7kj_qZVUi6mhk4996ZuSrmhDG6rIgQs-I2xi-MKeZc3BQzUlOBCafz4ndtY_LBqiekYfD7IMfDaZBOoz04SFYh-LEanAJkfEDWqQAygkajH6deJusdMgG-p4xYiMgb1DSf5Qv0STKKhimdGetQE3zupUOb2J8CbPTZIGukSRBQD-kge0TKdEAKXJrCEcGYswer4l1xbWQf4f5SF8Xu7XXXrJfbj_dN87xdjiWny5UyWmLoKlN13AiojNHYSCrrEiiRDDBwXRrCKqqF7laqAsYF11VFMZY1Z4vi8Ww7Bp9PiqkdbFTQ533BT7EVoq5JVmTw4QJO3QC6HYMdZDi2_69lf0m9eBs</recordid><startdate>200902</startdate><enddate>200902</enddate><creator>Biloglav, Zrinka</creator><creator>Zgaga, Lina</creator><creator>Smoljanović, Mladen</creator><creator>Hayward, Caroline</creator><creator>Polasek, Ozren</creator><creator>Kolcić, Ivana</creator><creator>Vitart, Veronique</creator><creator>Zemunik, Tatijana</creator><creator>Boraska, Vesna</creator><creator>Torlak, Vesela</creator><creator>Mulić, Rosanda</creator><creator>Ropac, Darko</creator><creator>Grković, Ivica</creator><creator>Rudan, Diana</creator><creator>Ristić, Smiljana</creator><creator>Barbalić, Maja</creator><creator>Campbell, Harry</creator><creator>Wright, Alan F</creator><creator>Rudan, Igor</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200902</creationdate><title>Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics</title><author>Biloglav, Zrinka ; Zgaga, Lina ; Smoljanović, Mladen ; Hayward, Caroline ; Polasek, Ozren ; Kolcić, Ivana ; Vitart, Veronique ; Zemunik, Tatijana ; Boraska, Vesna ; Torlak, Vesela ; Mulić, Rosanda ; Ropac, Darko ; Grković, Ivica ; Rudan, Diana ; Ristić, Smiljana ; Barbalić, Maja ; Campbell, Harry ; Wright, Alan F ; Rudan, Igor</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p542-7cfda0eb8f8b4f6e8ffd0fa2a95e21a3e0e4d5f1382d6db7c8e3464d88200a943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Croatia - epidemiology</topic><topic>Demography</topic><topic>Gene Frequency</topic><topic>Genetics, Population</topic><topic>Geography</topic><topic>History, 15th Century</topic><topic>History, 16th Century</topic><topic>History, 17th Century</topic><topic>History, 18th Century</topic><topic>History, Medieval</topic><topic>HIV Infections - genetics</topic><topic>Humans</topic><topic>Plague - epidemiology</topic><topic>Plague - genetics</topic><topic>Plague - history</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Receptors, CCR5 - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Biloglav, Zrinka</creatorcontrib><creatorcontrib>Zgaga, Lina</creatorcontrib><creatorcontrib>Smoljanović, Mladen</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Polasek, Ozren</creatorcontrib><creatorcontrib>Kolcić, Ivana</creatorcontrib><creatorcontrib>Vitart, Veronique</creatorcontrib><creatorcontrib>Zemunik, Tatijana</creatorcontrib><creatorcontrib>Boraska, Vesna</creatorcontrib><creatorcontrib>Torlak, Vesela</creatorcontrib><creatorcontrib>Mulić, Rosanda</creatorcontrib><creatorcontrib>Ropac, Darko</creatorcontrib><creatorcontrib>Grković, Ivica</creatorcontrib><creatorcontrib>Rudan, Diana</creatorcontrib><creatorcontrib>Ristić, Smiljana</creatorcontrib><creatorcontrib>Barbalić, Maja</creatorcontrib><creatorcontrib>Campbell, Harry</creatorcontrib><creatorcontrib>Wright, Alan F</creatorcontrib><creatorcontrib>Rudan, Igor</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Croatian medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Biloglav, Zrinka</au><au>Zgaga, Lina</au><au>Smoljanović, Mladen</au><au>Hayward, Caroline</au><au>Polasek, Ozren</au><au>Kolcić, Ivana</au><au>Vitart, Veronique</au><au>Zemunik, Tatijana</au><au>Boraska, Vesna</au><au>Torlak, Vesela</au><au>Mulić, Rosanda</au><au>Ropac, Darko</au><au>Grković, Ivica</au><au>Rudan, Diana</au><au>Ristić, Smiljana</au><au>Barbalić, Maja</au><au>Campbell, Harry</au><au>Wright, Alan F</au><au>Rudan, Igor</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics</atitle><jtitle>Croatian medical journal</jtitle><addtitle>Croat Med J</addtitle><date>2009-02</date><risdate>2009</risdate><volume>50</volume><issue>1</issue><spage>34</spage><epage>42</epage><pages>34-42</pages><eissn>1332-8166</eissn><abstract>To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period.
In 2002, DNA analysis of 100 randomly selected individuals from each of the 10 isolated communities of 5 Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed high levels of 3-generational endogamy, indicating limited gene flow. Five of the communities were decimated by epidemics of unknown cause between 1449-1456, while the other 5 villages remained unaffected. Genotyping of the CCR5 gene was performed using the polymerase chain reaction method with primers flanking the region containing 32-bp deletion.
The frequency of CCR5Delta32 in the 5 villages affected by the epidemic was 6.1-10.0%, and 1.0-3.8% in the 5 unaffected villages. The Delta32 mutation was found in 71 of 916 alleles among the individuals from the affected villages (7.5%), and in 24 of 968 alleles in unaffected villages (2.5%, chi(2)=27.3, P<10-6). A previous study in 303 random Croatian blood donors showed the frequency of the CCR5 Delta32 of 7.1% in the general population. The difference remained significant after correcting for population structure using both STRAT and STRUCTURE software and the genomic control test, to ensure results do not arise from the background genetic differences.
Our results and historical evidence, suggest that the mid-15th century epidemic could have acted as a selection pressure for the CCR5Delta32 mutation.</abstract><cop>Croatia</cop><pmid>19260142</pmid><tpages>9</tpages></addata></record> |
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| identifier | EISSN: 1332-8166 |
| ispartof | Croatian medical journal, 2009-02, Vol.50 (1), p.34-42 |
| issn | 1332-8166 |
| language | eng |
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| source | PubMed |
| subjects | Croatia - epidemiology Demography Gene Frequency Genetics, Population Geography History, 15th Century History, 16th Century History, 17th Century History, 18th Century History, Medieval HIV Infections - genetics Humans Plague - epidemiology Plague - genetics Plague - history Polymerase Chain Reaction Polymorphism, Genetic Receptors, CCR5 - genetics |
| title | Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics |
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