RESUMEN
OBJECTIVE: This study investigated the hypothesis that the single nucleotide polymorphisms (SNPs) of TP53 gene are related to a risk of myocardial infarction. METHODS: The coding SNP at codon 72 (rs1042522) and non-coding rs8064946 SNP were genotyped by polymerase chain reaction with sequence specific primers in 205 Czech patients with myocardial infarction and 148 Czech control subjects. RESULTS: The distribution of both SNPs was in agreement with the Hardy-Weinberg equilibrium and was similar to other European populations. Our power analysis showed 96 % of probability to detect an odd ratio equal to 2. Neither rs1042522 nor rs8064946 were associated with the risk of myocardial infarction. The haplotypes combined of rs1042522 and rs8064946 were not associated with myocardial infarction in the present study. CONCLUSION: The TP53 SNPs are not strongly associated with genetic predisposition to myocardial infarction (Tab. 3, Fig. 3, Ref. 23).
Asunto(s)
Infarto del Miocardio , Proteína p53 Supresora de Tumor , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Proteína p53 Supresora de Tumor/genéticaRESUMEN
In the recent genome-wide association study the polymorphisms of annexin A11 (ANXA11) gene were associated with susceptibility to sarcoidosis. Beside the replication of this finding and analysis of local ANXA11 expression in bronchoalveolar lavage cells, we wondered whether 'leading' ANXA11 rs1049550 (R230C) variant might also be related to the clinical manifestation of sarcoidosis. The study included 245 Czech patients with sarcoidosis and 254 healthy control subjects. The frequency of ANXA11(*)T allele was significantly lower in patients with sarcoidosis (35%) compared with controls (42%, P=0.04, odds ratio=0.77). Furthermore, ANXA11(*)T allele was less frequent in patients with the infiltration of lung parenchyma by comparison with those with isolated hilar lymphadenopathy (P=0.01). In line with the previous observation, ANXA11 mRNA expression was not deregulated in sarcoidosis and was independent from rs1049550 variant. In conclusion, ANXA11 rs1049550 single nucleotide polymorphism is the susceptibility marker in sarcoidosis, at least in Caucasians. Its role as a disease modifier should be independently replicated.
Asunto(s)
Anexinas/genética , Predisposición Genética a la Enfermedad , Sarcoidosis/genética , Adulto , Anexinas/metabolismo , Biomarcadores , Femenino , Estudio de Asociación del Genoma Completo , Granuloma/genética , Humanos , Pulmón/patología , Enfermedades Pulmonares/genética , Enfermedades Linfáticas/genética , Enfermedades Linfáticas/patología , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , ARN Mensajero/biosíntesis , Sarcoidosis/metabolismoAsunto(s)
Sustitución de Aminoácidos/genética , Factor Neurotrófico Derivado del Encéfalo/genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Anciano , Alelos , Estudios de Casos y Controles , República Checa , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana EdadRESUMEN
C-reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none of studied variants was associated with schizophrenia.
Asunto(s)
Proteína C-Reactiva/genética , Variación Genética , Esquizofrenia/genética , Adulto , Alelos , Armenia , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Persona de Mediana Edad , Proyectos Piloto , Polimorfismo de Nucleótido Simple , Población Blanca/genéticaRESUMEN
Periprosthetic osteolysis (OL) is a major long-term complication of the total hip arthroplasty (THA), which can result in aseptic loosening and revision surgery. Purinergic receptor P2X, ligand-gated ion channel 7 (P2RX7) is an important regulator of inflammation and bone turnover. We were therefore interested in whether functional variants of the P2RX7 gene may be associated with OL and risk of THA failure. A total of 205 unrelated Czech patients with cementless-type THA were stratified according to the severity of acetabular OL and revision of THA. Four "loss-of-function" P2RX7 single nucleotide polymorphisms (SNPs), namely Glu496Ala, Ile568Asn, Arg307Gln, and null allele (rs35933842), were genotyped by polymerase chain reaction with sequence-specific primers (PCR-SSP). No significant association of P2RX7 variants with severity of OL was observed. The carriers of rare variants P2RX7 568Asn, 307Gln and null allele, all causing complete loss of P2RX7 function, tended to be overrepresented among patients with THA revision (9.6%) by comparison with those with unrevised functional prosthesis (2.1%, p = 0.09). Furthermore, the carriage of the P2RX7 307Gln allele was associated with greater cumulative hazard of THA revision (p = 0.02). In this preliminary study, we could nominate but not clearly demonstrate rare P2RX7 loss-of-function variants being associated with THA failure. Investigation in large THA cohorts is therefore warranted.
