RESUMEN
To investigate the role of T-helper cells/Treg (Th17/Treg) and morbidity factors related to primary nephritic syndrome (PNS) in children, as well as the influence of ox-low density lipoprotein (ox-LDL) on Th17/Treg expression in children with PNS. To clarify the pathogenesis of PNS in children, 50 children with PNS treated in our hospital were enrolled in the study group. Additionally, 20 healthy children who came to our hospital for physical examination during the same period were enrolled in the control group. Th17 and Treg cells in children belonging to the two groups were detected by flow cytometry; the numbers of Th17/Treg cells in peripheral blood mononuclear cells at different concentrations of ox-LDL were detected simultaneously. Ox-LDL can affect the number of Th17/Treg cells in peripheral blood mononuclear cells, and both cell types decreased with increasing concentration of ox-LDL, with the numbers being significantly lower in the control group. However, the decrease in the number of Th17 cells was statistically insignificant (P > 0.05), whereas the decrease in Treg cells was more obvious and statistically significant (P < 0.05). The effect of ox-LDL the number of Treg cells was stronger than that on Th17 cells. We concluded that the imbalance of Th17/Treg cells influenced by high and low ox-LDL concentrations in children with PNS might be the immunological basis of the disease.
Asunto(s)
Lipoproteínas LDL/sangre , Síndrome Nefrótico/inmunología , Linfocitos T Reguladores/inmunología , Células Th17/inmunología , Recuento de Células , Preescolar , Femenino , Citometría de Flujo , Humanos , Leucocitos Mononucleares/inmunología , Leucocitos Mononucleares/metabolismo , Lipoproteínas LDL/inmunología , Masculino , Síndrome Nefrótico/sangre , Síndrome Nefrótico/patología , Linfocitos T Reguladores/metabolismo , Células Th17/metabolismoRESUMEN
Previous studies have found that the vaccinia related kinase 2 gene (VRK2) polymorphism was associated with schizophrenia (SCZ) in the worldwide population. This association was further supported by VRK2 mRNA expression patterns and brain structure variations. Here, we analyzed four single nucleotide polymorphisms (SNPs) of the VRK2 gene in a total population of 893 samples, consisting of 360 patients with SCZ and 533 healthy controls of Han Chinese descent using the SNPscan method. Single SNP, haplotype, and gender-specific association analyses were performed. We found that rs3732136 was significantly associated with SCZ (P = 0.042; odds ratio = 1.25; 95% confidence interval = 1.01-1.55). Further genotype and haplotype association analyses suggested a similar pattern. Our data provide preliminary evidence that the VRK2 gene might play a major role in the development of SCZ in the Northwest Chinese Han population.
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Alelos , Pueblo Asiatico/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Proteínas Serina-Treonina Quinasas/genética , Esquizofrenia/genética , Adulto , Estudios de Casos y Controles , China , Femenino , Ligamiento Genético , Genotipo , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Factores SexualesRESUMEN
Recent studies indicate the involvement of dopamine receptors D1 and D3 in the regulation of locomotor stimulant and conditioned responses to morphine in mice. Moreover, expression of brain-derived neurotrophic factor (BDNF) may be modulated by D1 and D3 receptor activities in the nucleus accumbens (NAc) and prefrontal cortex (PFC). However, the underlying interactions between D1 and D3 receptors and BDNF in the expression of behavioral responses controlled by drug-associated cues have not yet been fully elucidated. In this study, we used dopamine receptor mutant mice to explore the roles of the D1 and D3 receptors in locomotion and morphine-induced place preference; furthermore, we investigated the effects of morphine on BDNF expression in the NAc and PFC of the mouse brain. Our results show that D1 receptor but not D3 receptor mutant mice had decreased sensitivity to acute morphine-induced (10 mg/kg) locomotion (D1: 3814.82 ± 319.9 cm vs D3: 8089.64 ± 967.4 cm). Furthermore, D1 receptor mutant mice did not acquire morphine-conditioned place preference (D1: -18.3 ± 59.9, D3: 217.7 ± 64.1) and showed decreased BDNF expression in the NAc (D1: 0.33 ± 0.07 fold, D3: 2.21 ± 0.18 fold) and PFC (D1: 0.74 ± 0.15 fold, D3: 1.68 ± 0.22 fold) compared with wild-type and D3 receptor mutant mice. These findings suggest that the D1 receptor is necessary for the induction of cue-associated morphine seeking and modulates locomotor habituation processes in response to acute morphine. The dopamine receptor D1 but not the D3 is also critical for morphine-induced BDNF expression in the NAc and PFC.
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Condicionamiento Psicológico/efectos de los fármacos , Morfina/farmacología , Receptores de Dopamina D1/metabolismo , Receptores de Dopamina D3/metabolismo , Animales , Conducta Animal/efectos de los fármacos , Factor Neurotrófico Derivado del Encéfalo/metabolismo , Conducta de Elección , Masculino , Ratones Endogámicos C57BL , Ratones Mutantes , Actividad Motora/efectos de los fármacos , Núcleo Accumbens/efectos de los fármacos , Núcleo Accumbens/metabolismo , Corteza Prefrontal/efectos de los fármacos , Corteza Prefrontal/metabolismoRESUMEN
Endothelial nitric oxide synthase (eNOS) is an enzyme that influences placental human chorionic gonadotropin production during gestation. Previous studies have indicated an association between eNOS activity, implantation, and maintenance of pregnancy, but proposed associations between polymorphisms of the eNOS gene and recurrent miscarriage (RM) are controversial. To identify markers contributing to the genetic susceptibility to RM, we examined the potential association between RM and 8 single nucleotide polymorphisms (SNPs; rs1799983, rs2070744, rs11771443, rs3918188, rs2853796, rs7830, rs1541861, and rs2853792) of the eNOS gene using the MassARRAY system (Sequenom, USA). The enrolled participants included 192 RM patients and 201 women with normal fertility as controls. The results showed that rs1799983 at exon 7 of the eNOS gene was significantly associated with RM (genotype: chi-square = 15.071, P = 0.001; allele: chi-square = 6.250, P = 0.016). Another significant association was observed for rs11771443 in the promoter (genotype: chi-square = 6.259, P = 0.044; allele: chi-square = 7.076, P = 0.008). Furthermore, strong linkage disequilibrium was observed in 3 blocks (D' > 0.9), and significantly fewer T-T-G haplotypes (chi-square = 5.981, P = 0.015) residing in block 1 were found in RM patients. These findings point to a role for eNOS gene polymorphisms in RM in the Chinese Han population and may be informative for future genetic or neurobiological studies of RM.
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Aborto Habitual/genética , Óxido Nítrico Sintasa de Tipo III/genética , Polimorfismo de Nucleótido Simple , Adulto , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , Cartilla de ADN/genética , Exones , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genética de Población , Haplotipos , Humanos , Desequilibrio de Ligamiento , Modelos Logísticos , Embarazo , Regiones Promotoras Genéticas , Análisis de Secuencia de ADN , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción , Adulto JovenRESUMEN
A large number of microsatellite genetic markers have been identified in the human leukocyte antigen (HLA) region. We investigated genetic polymorphism of the nine short tandem repeat (STR) loci (D6S276, MOGCA, D6S265, MIB, D6S273, G51152, TAP1CA, RING3CA, and D6S291) in the HLA region in the Shaanxi Han population. Using a fluorescence-labeled multiplex-PCR STR typing method, 6-13 alleles were detected in these nine STR loci in 150 unrelated Han Chinese from the region of Shaanxi, China. The distributions of the genotypes at these nine loci were in Hardy-Weinberg equilibrium. We conclude that these nine STR loci have a high level of genetic polymorphism; they would be useful for population genetic studies, pre-transplantation HLA typing, forensic and paternity testing, etc.
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Pueblo Asiatico/genética , Sitios Genéticos/genética , Antígenos HLA/genética , Repeticiones de Microsatélite/genética , Polimorfismo Genético , China , Cromosomas Humanos Par 6/genética , Etnicidad/genética , Frecuencia de los Genes/genética , Marcadores Genéticos , HumanosRESUMEN
We examined polymorphism of the TCTA tetranucleotide sequence in the 3rd intron of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the Han population of Ningxia Province in China. We also looked for a possible relationship between STR polymorphism in the 3rd intron of the HPRT gene and primary hyperuricemia. We used Chelex-100 to extract DNA, then PCR, PAGE and silver staining for allele genotyping and DNA sequencing to obtain the distribution of the alleles. We found, for the first time, that there is high STR polymorphism in the 3rd intron of the HPRT gene. We detected 5 STR alleles in this intron in the Han population of Ningxia Province, with 15 genotypes in females; significant differences were observed in the distribution of alleles and genotypes between control and patient groups for both males and females. Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia.