RESUMO
A functional variant in the Fc receptor-like 3 (FCRL3) gene has been implicated in susceptibility to autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus and autoimmune thyroid disease. Investigating a large case-control sample of patients with alopecia areata (AA), we found no evidence for the involvement of FCRL3 in susceptibility to AA.
Assuntos
Alopecia em Áreas/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptores Imunológicos/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Citosina , Feminino , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , TiminaRESUMO
A recent study has suggested that the g.961C >G (p.Ser278Arg) variant of the autoimmune regulator (AIRE) gene contributes to susceptibility to alopecia areata (AA). We attempted to replicate this finding using a case-control sample of Belgian-German origin (273 patients and 283 controls). Despite adequate power, our study results do not support a significant association of the risk allele in our AA patient sample. This remained the case when we stratified our sample according to severity and family history of disease. Our study results do not support the hypothesis that the g.961C >G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA.
Assuntos
Alopecia em Áreas/genética , Polimorfismo Genético , Fatores de Transcrição/genética , Alelos , Estudos de Casos e Controles , Frequência do Gene , Variação Genética , Humanos , Índice de Gravidade de Doença , População Branca/genética , Proteína AIRERESUMO
In order to identify single-nucleotide polymorphisms (SNPs) and analyze their characteristics in a set of 111 genes, we resequenced exons and flanking regions in an average of 170 chromosomes from individuals of European origin. Genetic variability was decreased in noncoding regions highly conserved between human and rodents, indicating functional relevance of these regions. Furthermore, diversity of coding nonsynonymous SNPs was found lower in regions encoding a known protein sequence motif. SNPs predicted to be of functional significance were more common amongst rare variants. Despite the significant recent growth of SNP numbers in public SNP databases, only a small fraction of these rare variants is represented. This may be relevant in the investigation of the genetic causes of severe side effects, for which rare variants are plausible candidates. Estimation of htSNPs reduces the genotyping effort required in capturing common haplotypes, for certain genes, however, this accounts for only a small fraction of haplotype diversity.
