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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Variation in human β-defensin genes: new insights from a multi-population study.

R K Mehlotra¹, P A Zimmerman, A Weinberg

¹Center for Global Health and Diseases, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

International Journal of Immunogenetics

|December 1, 2012

Summary

Genetic variations in human beta-defensin genes (DEFB1, DEFB4, DEFB103A) show racial differences and influence HIV infection susceptibility. Copy number variations in DEFB4/DEFB103A correlate with specific DEFB1 single nucleotide polymorphisms.

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Area of Science:

Immunogenetics
Human genetics
Infectious disease genetics

Background:

Human beta-defensins (hBDs) are antimicrobial peptides with roles in innate immunity.
hBD-2 and hBD-3 exhibit anti-HIV activity, with their genes (DEFB4, DEFB103A) showing copy number variation (CNV).
The role of hBD-1 (DEFB1) in HIV-1 infection is less understood, but single nucleotide polymorphisms (SNPs) may affect viral loads and disease progression.

Purpose of the Study:

To investigate the distribution of DEFB1 SNPs and DEFB4/103A CNV in different populations.
To examine the relationship between DEFB1 SNPs and DEFB4/103A CNV.
To explore the complex interplay between beta-defensin genetic variations and HIV infection.

Main Methods:

Genotyping of 10 DEFB1 SNPs using a post-PCR, oligonucleotide ligation detection reaction-fluorescent microsphere assay.
Quantification of DEFB4/103A CNV using real-time quantitative PCR.
Analysis of samples from US HIV/AIDS cohorts and diverse populations from Coriell Cell Repositories.

Main Results:

Significant differences in DEFB1 SNP allele and haplotype frequencies were observed across racial/ethnic groups.
DEFB4/103A copy numbers ranged from 2 to 8, with significant differences between self-identified white and black individuals in US cohorts.
DEFB4/103A CNV distribution differed significantly among specific DEFB1 genotypes (-52G/A and -390T/A).

Conclusions:

Beta-defensin gene polymorphisms and CNVs exhibit population-specific frequencies.
Genetic variations in DEFB1 are associated with DEFB4/103A CNV.
These findings offer insights into the genetic factors influencing HIV susceptibility and disease progression.