RESUMO
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RESUMO
About 90% of patients with systemic lupus erythematosus (SLE) are female. We hypothesize that the number of X chromosomes, not sex, is a determinate of risk of SLE. Number of X chromosomes was determined by single nucleotide typing and then confirmed by karyotype or fluorescent in situ hybridization in a large group of men with SLE. Presence of an sry gene was assessed by RT-PCR. We calculated 96% confidence intervals using the Adjusted Wald method, and used Bayes' theorem to estimate the prevalence of SLE among 47,XXY and 46,XX men. Among 316 men with SLE, 7 had 47,XXY and 1 had 46,XX. The rate of Klinefelter's syndrome (47,XXY) was statistically different from that found in control men and from the known prevalence in the population. The 46,XX man had an sry gene, which encodes the testes determining factor, on an X chromosome as a result of an abnormal crossover during meiosis. In the case of 46,XX, 1 of 316 was statistically different from the known population prevalence of 1 in 20,000 live male births. A previously reported 46,XX man with SLE had a different molecular mechanism in which there were no common gene copy number abnormalities with our patient. Thus, men with SLE are enriched for conditions with additional X chromosomes. Especially since 46,XX men are generally normal males, except for infertility, these data suggest the number of X chromosomes, not phenotypic sex, is responsible for the sex-bias of SLE.
Assuntos
Aneuploidia , Lúpus Eritematoso Sistêmico/genética , Aberrações dos Cromossomos Sexuais , Cromossomos Humanos X , Gliceraldeído 3-Fosfato Desidrogenase (NADP+)/genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Receptores Androgênicos/genética , Fatores Sexuais , Proteína da Região Y Determinante do Sexo/genéticaAssuntos
Curcumina/metabolismo , DNA/metabolismo , Animais , Antineoplásicos/efeitos adversos , Antineoplásicos/metabolismo , Antineoplásicos/uso terapêutico , Apoptose/efeitos dos fármacos , Curcumina/efeitos adversos , Curcumina/uso terapêutico , Eletroforese em Gel de Ágar , Humanos , Substâncias Intercalantes/efeitos adversos , Substâncias Intercalantes/metabolismo , Substâncias Intercalantes/uso terapêutico , Neoplasias/tratamento farmacológico , Neoplasias/patologiaRESUMO
C1q is of interest in systemic lupus erythematosus (SLE) research due to deficiencies in its activity being associated with the disease. Current published protocols for measuring C1q vary greatly in their results and ease of reproducibility. Due to this, average C1q concentrations have been reported between 56 and 276 microg/mL in non-SLE serum. We present an improved method for quantifying C1q concentrations, which employs a sandwich ELISA. This method has improved precision, cost efficiency, up-scaling, reproducibility, and uses significantly lesser volumes of serum sample when compared to RID and other methods for quantifying C1q. We report an average concentration of 113 +/- 40 microg/mL for C1q in non-SLE serum. The assay designed here will be useful in the high-throughput measurement of serum C1q in SLE cases.
