RESUMO
A functional variant in the Fc receptor-like 3 (FCRL3) gene is associated with the susceptibility to several autoimmune diseases. In this study, we examined whether the FCRL3 is associated with susceptibility to primary biliary cirrhosis (PBC) by comparing the two different ethnic groups, Japanese and Italians. We enrolled 232 patients with PBC and 230 controls in Japanese, and 216 PBC and 180 controls in Italians. Minor allele frequency of fcrl3_3 (-169 T>C) in the patients with PBC and controls was 0.20 and 0.09 in Japanese and 0.24 and 0.21 in Italians, respectively. We found a significant association of fcrl3_3 with PBC only in Japanese (P = 9.64 × 10(-7) ). These findings support the presence of common FCRL3-related pathological pathways in several autoimmune diseases, especially in Asians.
Assuntos
Povo Asiático/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Cirrose Hepática Biliar/genética , Receptores Imunológicos/genética , População Branca/genética , Idoso , Doenças Autoimunes/etnologia , Doenças Autoimunes/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Itália , Cirrose Hepática Biliar/etnologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
To examine the genetics of susceptibility to primary biliary cirrhosis (PBC), genome-wide association studies GWAS have been performed in patients of European ancestry and have shown the significant associations of IL12-related pathways, SPIB, IRF5-TNPO3, and 17q12-21. We tested whether these findings could be extended to a Japanese cohort, 303 Japanese PBC and 298 controls. We failed to detect significant associations at IL12A (rs574808, rs1075498) and IL12RB2 (rs3790567). There was no genetic variance at IRF5-TNPO3 (rs10488631) in Japanese. A single nucleotide polymorphism (SNP) at SPIB (rs3745516) reached nominal significance, but the corrected P value did not reach significance. For the 17q12-21 region, two SNPs had nominally significant associations [GSDMB (rs2305480, P = 0.022) and ZPBP2 (rs11557467, P = 0.021)] and we noted a significant P value at a SNP in IKZF3 (rs939327, P = 0.0024, P(c) = 0.017) after correction for multiple comparisons. Thus, these results indicate a haplotype on 17q12-21 with a similar association in Japanese and European PBC.
Assuntos
Povo Asiático/genética , Cromossomos Humanos Par 17/genética , Cirrose Hepática Biliar/genética , Adulto , Idoso , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Fatores Reguladores de Interferon/genética , Subunidade p35 da Interleucina-12/genética , Cirrose Hepática Biliar/etnologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina-12/genética , beta Carioferinas/genéticaRESUMO
This article demonstrates one clinical application of biofeedback treatment with a microvibration (MV) transducer to relieve functional tremors. A MV transducer, a kind of accelerometer, was originally developed to detect invisible tremors from the body surface but this equipment is also utilized to detect visible tremors to convert them to auditory signals. Our method uses almost the same procedure as electromyographic biofeedback treatment. The threshold level for production of auditory signals should be determined as high as possible between the superimposed amplitudes of essential MV and tremor components. As the sessions progress, the predeterminate threshold level should be gradually lowered to almost the same amplitude as MV itself. In determining the threshold, it is more appropriate to utilize records of the frequency band in which the tremor components are described more clearly, in order to remove noises or MV waves of different frequency ranges. Because of the high sensitivity of this accelerometer, such "tremor feedback" treatment can be recommended only if the tremor is present while the patient is resting or remains still.