C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: Description of a cold sore susceptibility gene

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Abstract

Background.Herpes simplex virus type 1 (HSV-1) infects >70% of the United States population. We identified a 3-megabase region on human chromosome 21 containing 6 candidate genes associated with herpes simplex labialis (HSL, "cold sores").Methods.We conducted single nucleotide polymorphism (SNP) scans of the chromosome 21 region to define which of 6 possible candidate genes were associated with cold sore frequency. We obtained the annual HSL frequency for 355 HSV-1 seropositive individuals and determined the individual genotypes by SNPlex for linkage analysis and parental transmission disequilibrium testing (ParenTDT).Results.Two-point linkage analysis showed positive linkage between cold sore frequency and 2 SNPs within the C21orf91 region, 1 of which is nonsynonymous. ParenTDT analysis revealed a strong association between another C21orf91 SNP, predicted to lie in the 3′ untranslated region, and frequent HSL (P =. 0047). C21orf 91 is a predicted open reading frame of unknown function that encodes a cytosolic protein.Conclusions. We evaluated candidate genes in the cold sore susceptibility region using fine mapping with 45 SNP markers. 2 complementary techniques identified C21orf91 as a gene of interest for susceptibility to HSL. We propose that C21orf91 be designated the Cold Sore Susceptibility Gene-1 (CSSG1). © The Author 2011. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved.

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Kriesel, J. D., Jones, B. B., Matsunami, N., Patel, M. K., St. Pierre, C. A., Kurt-Jones, E. A., … Hobbs, M. R. (2011). C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: Description of a cold sore susceptibility gene. Journal of Infectious Diseases, 204(11), 1654–1662. https://doi.org/10.1093/infdis/jir633

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