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The emergence and maintenance of sickle cell hotspots in the Mediterranean
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Penman, Bridget S., Gupta, Sunetra and Buckee, Caroline O. (2012) The emergence and maintenance of sickle cell hotspots in the Mediterranean. Infection, Genetics and Evolution , 12 (7). pp. 1543-1550. doi:10.1016/j.meegid.2012.06.001 ISSN 1567-1348.
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Official URL: http://dx.doi.org/10.1016/j.meegid.2012.06.001
Abstract
Genetic disorders of haemoglobin (haemoglobinopathies), including the thalassaemias and sickle cell anaemia, abound in historically malarious regions, due to the protection they provide against death from severe malaria. Despite the overall spatial correlation between malaria and these disorders, inter-population differences exist in the precise combinations of haemoglobinopathies observed. Greece and Italy present a particularly interesting case study: their high frequencies of beta thalassaemia speak to a history of intense malaria selection, yet they possess very little of the strongly malaria protective mutation responsible for sickle cell anaemia, despite historical migrational links with Africa where high frequencies of sickle cell occur. Twentieth century surveys of beta thalassaemia and sickle cell in Greece, Sicily and Sardinia have revealed striking sickle cell ‘hotspots’ – places where the frequency of sickle cell approaches that seen in Africa while neighbouring populations remain relatively sickle cell free. It remains unclear how these hotspots have been maintained over time without sickle cell spreading throughout the region. Here we use a metapopulation model to show that (i) epistasis between the alpha and beta forms of thalassaemia can restrict the spread of sickle cell through a network of linked subpopulations and (ii) the emergence of sickle cell hotspots requires relatively low levels of gene flow, but the aforementioned epistasis increases the chances of hotspots forming.
| Item Type: | Journal Article | ||||||||||
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| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine |
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| Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | ||||||||||
| Library of Congress Subject Headings (LCSH): | Sickle cell anemia, Thalassemia, Malaria, Epistasis (Genetics) | ||||||||||
| Journal or Publication Title: | Infection, Genetics and Evolution | ||||||||||
| Publisher: | Elsevier BV | ||||||||||
| ISSN: | 1567-1348 | ||||||||||
| Official Date: | October 2012 | ||||||||||
| Dates: |
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| Volume: | 12 | ||||||||||
| Number: | 7 | ||||||||||
| Page Range: | pp. 1543-1550 | ||||||||||
| DOI: | 10.1016/j.meegid.2012.06.001 | ||||||||||
| Status: | Peer Reviewed | ||||||||||
| Publication Status: | Published | ||||||||||
| Access rights to Published version: | Open Access (Creative Commons) | ||||||||||
| Date of first compliant deposit: | 16 September 2016 | ||||||||||
| Date of first compliant Open Access: | 16 September 2016 | ||||||||||
| Funder: | Wellcome Trust (London, England), Royal Society (Great Britain). Wolfson Research Merit Award (RSWRMA), European Research Council (ERC), University of Oxford. Christopher Welch Scholarship |
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