title: C21orf91 genotypes correlate with herpes simplex labialis (cold sore) frequency: description of a cold sore susceptibility gene.
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).
authors: Division of Infectious Diseases, Department of Internal Medicine, University of Utah, Salt Lake City, Utah, 84132, USA. john.kriesel@hsc.utah.edu
authors: John D
authors: JD
authors: Kriesel
authors: Brandt B
authors: BB
authors: Jones
authors: Nori
authors: N
authors: Matsunami
authors: Milan K
authors: MK
authors: Patel
authors: Christine A
authors: CA
authors: St Pierre
authors: Evelyn A
authors: EA
authors: Kurt-Jones
authors: Robert W
authors: RW
authors: Finberg
authors: Mark
authors: M
authors: Leppert
authors: Maurine R
authors: MR
authors: Hobbs
mesh_terms: D000914:Antibodies, Viral / Q000097:blood; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D056726:Genetic Association Studies; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006560:Herpes Labialis / Q000235:genetics* / Q000821:virology; D018259:Herpesvirus 1, Human / Q000276:immunology; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D000914:Antibodies, Viral