Variation in human β‐defensin genes: new insights from a multi‐population study. (29th November 2012)

• Record Type: Journal Article
• Authors: Mehlotra, R. K.; Zimmerman, P. A.; Weinberg, A.; Jurevic, R. J.
• Is Part Of: International journal of immunogenetics. Volume 40:Number 4(2013:Aug.)
• Page Start: 261
• Page End: 269
• Publication Date: 2012-11-29
• Subjects: Immunogenetics -- Periodicals; 571.9648
• DOI: 10.1111/iji.12021
• Languages: English
• ISSNs: 1744-3121

Abstract

<abstract abstract-type="main" id="iji12021-abs-0001"> <title>Summary</title> <p>Human β‐defensin 2 (hBD‐2) and hBD‐3, encoded by <italic>DEFB4</italic> and <italic>DEFB103A</italic>, respectively, have shown anti‐HIV activity, and both genes exhibit copy number variation (CNV). Although the role of hBD‐1, encoded by <italic>DEFB1</italic>, in HIV‐1 infection is less clear, single nucleotide polymorphisms (SNPs) in <italic>DEFB1</italic> may influence viral loads and disease progression. We examined the distribution of <italic>DEFB1</italic> SNPs and <italic>DEFB4</italic>/<italic>103A</italic> CNV, and the relationship between <italic>DEFB1</italic> SNPs and <italic>DEFB4</italic>/<italic>103A</italic> CNV using samples from two HIV/AIDS cohorts from the United States (<italic>n</italic> = 150) and five diverse populations from the Coriell Cell Repositories (<italic>n</italic> = 46). We determined the frequencies of 10 SNPs in <italic>DEFB1</italic> using a post‐PCR, oligonucleotide ligation detection reaction–fluorescent microsphere assay, and CNV in <italic>DEFB4</italic>/<italic>103A</italic> by real‐time quantitative PCR. There were noticeable differences in the frequencies of <italic>DEFB1</italic> SNP alleles and haplotypes among various racial/ethnic groups. The <italic>DEFB4/103A</italic> copy numbers varied from 2 to 8 (median, 4), and there was a significant difference between the copy numbers of self‐identified whites and blacks in the US cohorts (Mann–Whitney <italic>U‐</italic>test <italic>P </italic>=<italic> </italic>0.04). A significant difference was observed in the distribution of <italic>DEFB4/103A</italic> CNV among <italic>DEFB1</italic> ‐52G/A and ‐390T/A genotypes (Kruskal–Wallis <italic>P </italic>=<italic> </italic>0.017 and 0.026, respectively), while not in the distribution of <italic>DEFB4/103A</italic> CNV among ‐52G/A_‐44C/G_‐20G/A diplotypes. These observations provide additional insights for further investigating the complex interplay between β‐defensin genetic polymorphisms and susceptibility to, or the progression or severity of, HIV infection/disease.</p> </abstract>