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Relacionan el gen UBAC2 con E.Behçet en China
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Replication study confirms the association between UBAC2 and Behcet's disease in two independent Chinese sets of patients and controls

IntroductionTo replicate genetic factors associated with the susceptibility to Behcet's disease (BD). We conducted a two-stage candidate genes association study and functional study, involving four hundred and seventy-seven BD patients and 1334 normal controls of Chinese Han descent.

Methods: The genotyping of five candidate genes/loci including LOC100129342, KIAA1529, CPVL, UBASH3B, UBAC2 were performed using TaqMan single nucleotide polymorphism (SNP) Assays.

Real-time PCR and luciferase reporter assay were performed to test the function of the identified promoter polymorphism. The main outcome measures were genotype frequencies and expression levels in BD patients.

Results: The first-stage study result showed that (UBAC2) (rs9513584, Pc=0.018, OR=1.4), but not LOC100129342, KIAA1529, CPVL, UBASH3B was associated with the susceptibility to BD in Chinese Han.

The fine-mapping association study of UBAC2 identified six risk SNPs for BD in Chinese cohort, three of them were verified in validation study (rs3825427, first-stage Pc=2.2x10-3, second-stage Pc=9.3x10-3, combined Pc=6.9x10-6; rs9517668, first-stage Pc=1.7x10-3, second-stage Pc=0.03, combined Pc=3.3x10-4; rs9517701, first-stage Pc=5.1x10-3, second-stage Pc=9.0x10-3, combined Pc=2.9x10-5; respectively). Functional analysis showed that the risk T allele of the promoter polymorphism rs3825427 had a significantly lower promoter activity than the non-risk G allele (P=0.002) and a decreased expression of UBAC2 transcript variant 1 in peripheral blood mononuclear cells (PBMCs) and skin of normal controls carrying the risk T allele than that in individuals with the G allele (P=0.045, P=0.025; respectively).

The mRNA expression of UBAC2 transcript variant 1 was significantly decreased in PBMCs and skin of BD patients as compared with controls (P=0.025; P=0.047, respectively). The mRNA expression of UBAC2 transcript variant 2 was significantly increased in skin of BD patients as compared with controls (P=0.004).

Conclusions: This study replicates a predisposition gene to BD, UBAC2, and suggests that UBAC2 may be involved in the development of BD through its transcriptional modulation.

Author: Shengping HouQinmeng ShuZhengxuan JiangYuanyuan ChenFuzhen LiFeilan ChenAize KijlstraPeizeng Yang
Credits/Source: Arthritis Research &Therapy 2012, 14:R70

Fuente:7THSPACE.COM
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OTRA VARIACIÓN DEL GEN PDGFRL EN POBLACIÓN CHINA Y E BEHÇET
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Genetic variant on PDGFRL associated with Behçet's disease in Chinese Han populations

Behçet's disease is a complex multisystem disorder. This study aimed to explore the predisposition of PDGFRL at the 8p21.3 locus with Behçet's disease and its expression level for different genotypes. A two-stage association study was performed in 719 patients and 1820 controls for 26 tagSNPs in the PDGFRL gene. Real-time PCR and Bonferroni correction were performed. The first stage study showed that SNP rs17633132 was associated with Behçet's disease (Pc=5.20×10−3). Replication and combined studies showed consistent association for rs17633132 T allele and genotype (Replication: Pc=3.90×10−4 and 5.70×10−3; combined: Pc=2.05×10−6 and 3.20×10−4). No haplotypes in PDGFRL were associated with Behçet's disease. The expression of PDGFRL in skin from rs17633132 CC genotype individuals was increased as compared with that in those with the CT or genotype (P=0.028, P=0.032; respectively). This study identified a Behçet's disease associated gene, PDGFRL, and suggests its involvement of Behçet's disease by modulating its transcription.


Fuente:SCIENCEALERTS.COM
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Relacionan el gen UBAC2 con E.Behçet en China
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