title: Genotype-phenotype correlations in severe acne in a han Chinese population.
abstract: BACKGROUND
  Two novel susceptibility gene loci (1q24.2 and 11p11.2) for severe acne have been identified in a genome-wide association study of a Han Chinese population.
  
  
  OBJECTIVE
  The current study investigated the relationships of these gene loci with clinical phenotypes, including onset age, atrophic scarring, hypertrophic scarring and family history. Furthermore, we investigated the correlations between these four clinical phenotypes.
  
  
  METHODS
  We used the χ2 test to compare the allele frequency among the different clinical phenotypes. We calculated Spearman's correlation coefficient to measure the relationship between the different clinical phenotypes.
  
  
  RESULTS
  We identified significant associations between the 11p11.2 locus and disease family history (p < 0.05). We also determined that hypertrophic scarring was moderately correlated with atrophic scarring (rs = 0.315).
  
  
  CONCLUSIONS
  This study suggests that the susceptibility gene locus 11p11.2 may contribute to the complex phenotypes of severe acne, particularly in cases of hereditary severe acne, whereas there are also correlations between the different phenotypes.
authors.affiliation: Laboratory for Conservation and Utilization of Bio-Resources and Key Laboratory for Microbial Resources of the Ministry of Education, Yunnan University, Kunming, China.
authors.forename: Jian-Kang
authors.initials: JK
authors.lastname: Yang
authors.forename: Wen-Juan
authors.initials: WJ
authors.lastname: Wu
authors.forename: Li
authors.initials: L
authors.lastname: He
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Zhang
mesh_terms: D000152:Acne Vulgaris / Q000208:ethnology* / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002681:China; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D015331:Cohort Studies; D016208:Databases, Factual; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult