Y Chromosome Lineage- and Village-Specific Genes on Chromosomes 1p22 and 6q27 Control Visceral Leishmaniasis in Sudan
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Familial clustering and ethnic differences suggest that visceral leishmaniasis caused by Leishmania donovani is under genetic control. A recent genome scan provided evidence for a major susceptibility gene on Chromosome 22q12 in the Aringa ethnic group in Sudan. We now report a genome-wide scan using 69 families with 173 affected relatives from two villages occupied by the related Masalit ethnic group. A primary ten-centimorgan scan followed by refined mapping provided evidence for major loci at 1p22 (LOD score 5.65; nominal p = 1.72 x 10(-7); empirical p < 1 x 10(-5); lambdaS = 5.1) and 6q27 (LOD score 3.74; nominal p = 1.68 x 10(-5); empirical p < 1 x 10(-4); lambdaS = 2.3) that were Y chromosome-lineage and village-specific. Neither village supported a visceral leishmaniasis susceptibility gene on 22q12. The results suggest strong lineage-specific genes due to founder effect and consanguinity in these recently immigrant populations. These chance events in ethnically uniform African populations provide a powerful resource in the search for genes and mechanisms that regulate this complex disease.
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Examples of host immune specialisation cited by F&T may simply reflect hosts with generally better immune systems or host groups whose immune systems differ because of founder effects.
“examples of host immune specialisation cited by F&T may simply reflect hosts with generally better immune systems (e.g., more major histocompatibility complexdiversity offering protection from a broad array of pathogens; Corby-Harris & Promislow 2008) or host groups whose immune systems differ because of founder effects (Miller et al. 2007).”
From Parasite-stress promotes in-group assortative sociality: The cases of strong family ties and heightened religiosity (2012) · cites this paper as Miller et al. 2007
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- Authors
- Miller, E. N., Fadl, M., Mohamed, H. S., Elzein, A., Jamieson, S. E., Cordell, H. J., Peacock, C. S., Fakiola, M., Raju, M., Khalil, E. A., Elhassan, A., Musa, A. M., Ibrahim, M. E., & Blackwell, J. M.
- Affiliations
- University of Cambridge (GB)
- University of Khartoum (SD)
- Corresponding author
- Blackwell, Jenefer M
- ORCID
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2007-05-11
- Volume
- 3
- Issue
- 5
- Pages
- e71
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC1866354
- OpenAlex
- W2075786894
- Cited by
- 72
- References
- 45
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 1 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 5 · 2013: 2 · 2012: 7
- FWCI
- 8.27
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, cc-by)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Research on Leishmaniasis Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Infectious Diseases › Leprosy Research and Treatment
- Keywords
- visceral leishmaniasis, Leishmania donovani, genetic susceptibility, chromosome 6q27, chromosome 22q12, Y-chromosome lineages, founder effect, consanguinity, familial aggregation, genome scan
- MeSH terms
- Adolescent, Adult, Alleles, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 6, Consanguinity, DNA, Mitochondrial, Female, Haplotypes, Humans, Leishmaniasis, Visceral, Lod Score, Male, Molecular Sequence Data, Pedigree, Rural Health, Rural Population, Species Specificity, Sudan, Genome, Human, Microsatellite Repeats, Chromosomes, Human, Y
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