Rheumatoid arthritis (RA) is a complex genetic disease. Human leukocyte antigen (HLA) and non-HLA genes are reportedly associated with an increased risk of RA. The protein tyrosine phosphatase non-receptor 22 gene (PTPN22), which encodes the lymphoid tyrosine phosphatase (LYP) protein, is one of the best examples of a non-HLA gene associated with a risk for RA in several populations. The functional PTPN22 C1858T (R620W) non-synonymous polymorphism is widely associated with an increased risk for RA in Europeans and non-Europeans. The aim of this study was to determine if the PTPN22 C1858T polymorphism confers susceptibility to RA in a sample of patients from Mexico. This study included 364 RA patients and 387 non-related controls from Central Mexico. Genotyping of the PTPN22 C1858T (rs2476601) polymorphism was performed using allelic discrimination assays with TaqMan probes. The functional PTPN22 C1858T polymorphism was associated with an increased risk for RA in our study population. The CC vs CT genotype in RA patients versus healthy controls had an odds ratio (OR) of 4.17 (95 % CI 1.79-9.74, p = 0.00036), while T allele had an OR of 4.06 (95 % CI 1.75-9.41, p = 0.00043). PTPN22 is a genetic risk factor for developing RA in the Mexican population.
Rheumatoid arthritis (RA) is a multifactorial disease. A combination of genetic and environmental risk factors contributes to its etiology. Several genes have been reported to be associated with susceptibility to the development of RA. The MHC2TA and FCRL3 genes have been associated previously with RA in Swedish and Japanese populations, respectively. In two recent reports, we show an association between FCRL3 and juvenile rheumatoid arthritis (JRA), and MHC2TA and acute coronary syndrome (ACS) in Mexican population. We assessed the association between three single nucleotide polymorphisms (SNPs) of the MHC2TA (-168G/A; rs3087456, and +16G/C; rs4774) and FCRL3 (-169T/C; rs7528684) genes and rheumatoid arthritis in Mexican population through a genotyping method using allelic discrimination assays with TaqMan probes. Our case-control study included 249 patients with RA and 314 controls. We found no evidence of an association between the MHC2TA -168G/A and +1614G/C or FCRL3 -169T/C polymorphisms and RA in this Mexican population. In this cohort of Mexican patients with RA, we observed no association between the MHC2TA or FCRL3 genes and this autoimmune disease.
RESUMENLa cocaína es la segunda droga de comercio ilegal más consumida en España después del cannabis. El número de pacientes atendidos en los servicios de urgencias tras consumir cocaína y los casos de muerte secundarios al consumo de la misma han ido aumentando hasta multiplicarse por seis en los últimos años. El consumo de este alcaloide ocasiona efectos nocivos, constatados sobre diferentes órganos y sistemas corporales, e incluso la muerte. A nivel del SNC destaca, por su gravedad e incidencia, la patología cerebro-vascular hemorrágica (PCVH). Este tipo de cuadro se halla asociado al consumo de drogas ilícitas entre el 9,5% y el 34% de los accidentes vasculares en menores de 45 años, siendo la cocaína la más frecuentemente implicada en su presentación. Por otro lado, la rotura de un aneurisma o malformación arteriovenosa se ha detectado hasta en el 50% de los pacientes con PCVH secundarios al consumo de cocaína. Presentamos tres casos de muerte súbita en adultos por patología cerebro-vascular hemorrágica asociada al consumo de cocaína.Palabras clave: Muerte súbita, patología cerebro-vascular, hemorragia, cocaína.
Cuad Med Forense 2005; 11(41):221-228
ABSTRACTCocaine is the second most frequent illegal drug consumed in Spain after cannabis. A significant increase has occurred in the number of individuals treated in emergency departments after cocaine use just as in the number of cocaine-related deaths. These rates have been actually multiplied by six in the latest years. Cocaine causes injury in different organ systems, even death. In the CNS the use of cocaine is frequently associated with cerebral haemorrhage. Stroke in young adults below 45 years is usually related to drug use between 9,5% and 34% of cases, and cocaine is the most frequently mentioned drug. Otherwise, even 50% of cocainerelated stroke is the result of rupture of saccular aneurysms involving the arteries at the base of the brain and vascular malformation. In this paper, we present three cases of sudden death in adults due to cerebral haemorrhage associated with cocaine use.
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