1399. The Cold Sore Susceptibility Gene (CSSG1)
Session: Oral Abstract Session: Host Susceptibility to Viral Infections
Sunday, October 23, 2011: 8:00 AM
Room: 156ABC
Background: Our group has recently described a gene on human chromosome 21, the cold sore susceptibility gene (CSSG1), that confers susceptibility to frequent cold sores in humans.  This work was done in a familial population using linkage analysis and SNP screening.  We present here for the first time a genotype-phenotype analysis of CSSG1 in a new unrelated human population.

Methods: More than 750 human subjects have been recruited into the Cold Sore Study.  CSSG-1 genotyping and HSV-1 serotyping are available from 514 subjects.  Six major CSSG1 haplotypes (i.e. alleles) were identified using the PLINK genetic analysis programs.  The major CSSG1 alleles were tested for associations with each of the phenotypes measured in the study subjects.  Statistical analysis was performed using PLINK and InStat software packages.

Results: 372 haplotypes were obtained from seronegative subjects; 621 from seropositive subjects. Among the 17 specific haplotype pairs observed, the presence of H2/H5 was significantly associated with seropositivity (13/14, p = 0.01) and H4/H4 was significantly associated with seronegativity (9/14, p = 0.04) compared with all others.  The H3 haplotype was associated with lower annual cold sore frequencies, fewer lifetime cold sore episodes, and lower perceived severity scores compared with the other haplotypes (p≤0.05).  Individuals with H1 and H2 haplotypes experienced more frequent cold sores relative to their H3 counterparts.  Individuals with the H3 haplotype, relatively protected from frequent cold sores, had higher HSV-1-specific ELISA Index levels than the H1 and H2 haplotypes (p<0.01).

Conclusion: Some protection from HSV-1 infection (seropositivity) was observed among subjects with the CSSG1 H4 haplotype.  This observation is novel as no non-HLA gene has ever been associated with susceptibiltiy to or protection from HSV-1 infection.  Individuals with the H3 haplotype enjoyed protection from cold sores and higher anti-HSV-1 ELISA Index values.  Individuals with the H1 and H2 haplotypes appeared to be susceptible to more frequent and more severe cold sores.  Different alleles of the newly described gene CSSG1 significantly affect the expression of cold sore phenotypes in this new, unrelated human population.

Subject Category: V. Virology including clinical and basic studies of viral infections, including hepatitis

John Kriesel, MD, Brandt Jones, BS, Ametishwar B. Bhatia, MD and Maurine Hobbs, PhD, University of Utah School of Medicine, Salt Lake City, UT


J. Kriesel, None

B. Jones, None

A. B. Bhatia, None

M. Hobbs, None

Findings in the abstracts are embargoed until 12:01 a.m. EST Thursday, Oct. 20 with the exception of research findings presented at IDSA press conferences.