Inter-population variability of DEFA3 gene absence

Correlation with haplotype structure and population variability

Ester Ballana, Juan Ramon González, Nina Bosch, Xavier P. Estivill

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Background: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported. Moreover, the DEFA3 gene has been found to be absent in a significant proportion of control population subjects. CNVs involving immune genes, such as α-defensins, are possibly contributing to innate immunity differences observed between individuals and influence predisposition and susceptibility to disease. Results: We have tested the DEFA3 absence in 697 samples from different human populations. The proportion of subjects lacking DEFA3 has been found to vary from 10% to 37%, depending on the population tested, suggesting differences in innate immune function between populations. Absence of DEFA3 was correlated with the region's haplotype block structure. African samples showed a higher intra-populational variability together with the highest proportion of subjects without DEFA3 (37%). Association analysis of DEFA3 absence with 136 SNPs from a 100-kb region identified a conserved haplotype in the Caucasian population, extending for the whole region. Conclusion: Complexity and variability are essential genomic features of the α-defensin cluster at the 8p23.1 region. The identification of population differences in subjects lacking the DEFA3 gene may be suggestive of population-specific selective pressures with potential impact on human health.

Original languageEnglish
Article number14
JournalBMC Genomics
Volume8
DOIs
Publication statusPublished - 2007
Externally publishedYes

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Haplotypes
Defensins
Population
Genes
Disease Susceptibility
Human Chromosomes
Innate Immunity
Single Nucleotide Polymorphism
Health

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Inter-population variability of DEFA3 gene absence : Correlation with haplotype structure and population variability. / Ballana, Ester; González, Juan Ramon; Bosch, Nina; Estivill, Xavier P.

In: BMC Genomics, Vol. 8, 14, 2007.

Research output: Contribution to journalArticle

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