RESUMEN
Analysis of association of allergic rhinitis with the KCNE4 gene rs12621643 variant was conducted in Russian residents of Western Siberia (taking into account comorbidity with bronchial asthma). It was found that, among individuals without bronchial asthma, the frequencies of the KCNE4*G allele and KCNE4*G/G genotype are significantly higher in patients with rhinitis compared to individuals without it. At the same time, no association of rs12621643 with rhinitis was detected in the group of individuals with bronchial asthma. The data obtained indicate the association of the KCNE4 gene variability with allergic rhinitis, although the effect of this gene relative to the development of the disease can be leveled against a background of the manifestation of another atopic disease.
Asunto(s)
Asma/epidemiología , Canales de Potasio con Entrada de Voltaje/genética , Rinitis Alérgica Perenne/epidemiología , Rinitis Alérgica Perenne/genética , Adulto , Asma/genética , Comorbilidad , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Rinitis Alérgica , Siberia/epidemiologíaRESUMEN
AIM: To investigate the role of polymorphic variants of immune-response modifying genes in predisposition to asthma. PATIENTS AND METHODS: The analysis of restriction fragments length polymorphism was used to investigate 10 single-nucleotide polymorphisms: IFNG rs2069705, IFNGR2 rs17880053, IL4 rs 2070874, IL4RA rs 1805010, GATA3 rs10905277, TBX21 rs11652969, PIASY rs3760903, PIAS3 rs12756687, STATS rs16967593, and SOCS5 rs6737848 in 106 asthma patients and 115 healthy people. RESULTS: The rs6737848 SOCS5 polymorphism was significantly associated with asthma in additive model (p = 0.05, OR = 0.338, 95% CI 0.158-0.723) and in dominant model (p = 0.02, OR = 0.284, CI 0.126-0.638). None of the polymorphisms of the studied genes was associated with total IgE levels. CONCLUSIONS: This is the first report on the association of rs6737848 SOCS5 with asthma.
Asunto(s)
Asma/genética , ADN/genética , Predisposición Genética a la Enfermedad , Polimorfismo Genético , Proteínas Supresoras de la Señalización de Citocinas/genética , Adolescente , Adulto , Anciano , Asma/metabolismo , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Proteínas Supresoras de la Señalización de Citocinas/metabolismo , Adulto JovenRESUMEN
Genome-wide association studies are currently considered as one of the most powerful tools to establishing the genetic basis of complex diseases. A number of such studies were carried out for allergic diseases; however, in Russian population this analysis has not been performed so far. For the first time, we performed genome-wide association study of allergic diseases in Russian inhabitants of Western Siberia. Two new loci associated with childhood bronchial asthma were identified (20q13.12, rs2425656, P = 1.99 x 10(-7); 1q32.1, rs3817222, rs12734001, P = 2.18 x 10(-7) and 2.79 x 10(-7), respectively) as well as one locus, associated with allergic rhinitis (2q36.1, rs1597167, P = 3.69 x 10(-7)). Genes located in the loci, YWHAB and PPP1R12B for asthma and KCNE4 for allergic rhinitis, are new genes for these diseases. It was found that BAT1 (6p21.33), MAGI2 (7q21.11) and ACPL2 (3q23) genes are, likely, common (syntropic) genes of allergic disease and a topic sensitisation. It was shown that RIT2 (18q12.3) and (5q31.1) genes can be involved in the control of lung function. The results of the study enlarge the body of data on genetic factors of allergy and expand the list of genes underlying these diseases.
Asunto(s)
Asma/genética , Estudio de Asociación del Genoma Completo , Rinitis Alérgica Perenne/genética , Población Blanca/genética , Proteínas 14-3-3/genética , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fosfatasa de Miosina de Cadena Ligera/genética , Linaje , Canales de Potasio con Entrada de Voltaje/genética , Siberia/etnología , Adulto JovenRESUMEN
Polymorphism for the GSTT1 and GSTM1 null alleles was analyzed in 69 patients with atopic bronchial asthma (BA) and in 57 healthy individuals from Tomsk. The two samples did not differ in frequencies of genotypes 0/0 and + of either gene or in frequencies of genotype combinations. No association was observed for GST and BA severity. Thus, the GST null alleles proved to be unimportant for BA.
Asunto(s)
Asma/genética , Glutatión Transferasa/genética , Polimorfismo Genético , Heterocigoto , Humanos , Valores de Referencia , SiberiaRESUMEN
In 75 male and 46 female subjects of an urban population (93% Russians) and in 38 males and 40 females of a rural population (87% Russians), the antioxidant activity (AOA) of blood plasma was determined from the plasma ability to reduce the yield of products interacting with thiobarbituric acid in the model lecithin-Fe2+ ion system. In the urban population, the loci TF (AvaI in exon5) and ACE (I/D polymorphism of the Alu repeat in intron16) were studied in 130 and 141 subjects, respectively. Of them, 102 and 111 subjects, respectively, were examined for AOA. In the rural population, the corresponding sample sizes were 75 and 76 (73 and 74 subjects were examined for AOA). The polymorphic loci of the urban and rural populations did not differ in the allele frequencies. In both populations Hardy--Weinberg and gametic equilibria were observed. The contributions of the TF and ACE genes to AOA variation in the combined sample from the urban and rural populations were 0.6 and 0.5%, respectively.