Y chromosome lineage- and village-specific genes on Chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan
2007

Genes on Chromosomes 1p22 and 6q27 Control Visceral Leishmaniasis in Sudan

Sample size: 173 publication 10 minutes Evidence: high

Author Information

Author(s): Miller E. Nancy, Fadl Manal, Mohamed Hiba S, Elzein Abier, Jamieson Sarra E, Cordell Heather J, Peacock Christopher S, Fakiola Michaela, Raju Madhuri, Khalil Eltahir A, Elhassan Ahmed, Musa Ahmed M, Ibrahim Muntaser E, Blackwell Jenefer M

Primary Institution: Cambridge Institute for Medical Research, University of Cambridge

Hypothesis

Familial clustering and ethnic differences suggest that visceral leishmaniasis is under genetic control.

Conclusion

The study identifies major lineage-specific genes at 1p22 and 6q27 that control visceral leishmaniasis in two villages in Sudan.

Supporting Evidence

  • Familial clustering suggests a genetic component to visceral leishmaniasis susceptibility.
  • Genome-wide scans identified significant loci associated with the disease.
  • Lineage-specific effects were observed due to founder effects and consanguinity.
  • Different villages showed different susceptibility loci despite being ethnically similar.
  • Y chromosome markers were used to tag extended pedigrees in the analysis.
  • Refined mapping provided genome-wide evidence for susceptibility genes.
  • Empirical p-values indicated strong significance for the identified loci.
  • Understanding population substructure is crucial for identifying disease susceptibility alleles.

Takeaway

Some people in Sudan are more likely to get sick from a disease called visceral leishmaniasis because of their genes, and this study found specific genes that are important.

Methodology

A genome-wide scan was performed using 69 families with 173 affected relatives from two villages, followed by refined mapping.

Potential Biases

Potential bias due to consanguinity and over-relatedness in the families studied.

Limitations

The study may not be generalizable beyond the specific ethnic groups and villages studied.

Participant Demographics

Participants were from two villages in eastern Sudan, occupied by the Masalit ethnic group.

Statistical Information

P-Value

1.72 × 10−7

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.0030071

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