Association study of rs924080 and rs11209032 polymorphisms of IL23R-IL12RB2 in a Northern Chinese Han population with Behcet's disease.

OBJECTIVES: Two genome-wide association studies (GWAS) have identified the IL-23 receptor- IL-12 receptor ß2 (IL23R-IL12RB2) as the susceptibility genetic region in Turkish and Japanese population with Behçet's disease (BD). We investigated the association of this region with BD in a Northern Chinese Han population. METHODS: A total of 407 patients with BD and 421 healthy controls were genotyped for single nucleotide polymorphisms (SNPs) rs924080 and rs11209032 using the Sequenom MassArray system. RESULTS: Statistically significant associations with BD were detected at two SNPs namely, rs924080 and rs11209032, both, by allele analysis (OR=1.58, 95% CI=1.25-2.00, Pc=2.52×10-4, and OR=1.45, 95% CI=1.19-1.76, Pc=3.46×10-4, respectively), and genotype analysis (Pc=1.22×10-3andPc=1.77×10-3, respectively). Significant differences were observed in the genotype frequency distribution for these SNPs under the additive, dominant and recessive models (all Pc<0.05). The haplotypes (AT and GC) formed by the two SNPs were associated with BD (all permutation P<0.05). A meta-analysis also appeared to support the association of the two SNPs with BD. CONCLUSION: SNPs (rs924080 and rs11209032) of the IL23R-IL12RB2 region were found to be associated with BD in a Northern Chinese Han population.

La genética de la depresión: ¿qué información aportan las nuevas aproximaciones metodológicas? / The genetics of depression: What information can new methodologic approaches provide?

El trastorno depresivo mayor forma parte del grupo de enfermedades denominadas genéticamente complejas en cuya base se encuentran involucrados una serie de genes de efecto menor o susceptibilidad cuya expresión podría estar modulada por un gran número de factores ambientales. Desde los primeros estudios clásicos de ligamiento hasta las nuevas metodologías de estudio de genoma completo se ha puesto de manifiesto la dificultad para comprender las bases genéticas de la depresión mayor. En muchos estudios se han identificado una o varias regiones génicas cuya variabilidad confiere un riesgo pequeño para desarrollar un trastorno depresivo; es decir, dichas variantes explicarían un porcentaje muy pequeño del componente genético total de la enfermedad en la población y, por tanto, poseerían un valor predictivo bajo. Aunque los resultados obtenidos hasta el momento no son concluyentes, las nuevas aproximaciones basadas en estudios de interacción gen-ambiente así como los análisis de vías biológicas (basados en los estudios GWAS) abren nuevas y prometedoras perspectivas en la investigación de las bases genéticas y biológicas de la depresión mayor (AU)

Major depressive disorder is a genetically complex disease involving several minor, or susceptibility, genes whose expression may be modulated by many environmental factors. From the classical early linkage studies to the complete genome-wide association (GWA) study methodologies, it is evident that it is difficult to understand the genetic bases of this mental disorder. Many studies have identified one or more gene regions whose variability confers a small risk for developing depressive disorder, explaining a small percentage of the total genetic component of disease with low predictive value. Although the results to date are inconclusive, new approaches based on gene-environment interactions and biological pathway analysis (based on GWA studies) open new and promising perspectives in the investigation of the genetic and biological basis of major depression (AU)