RESUMEN
It has been recently proposed by a genome-wide association study (GWAS) meta-analysis that the CCDC62 variant rs12817488 is a new risk locus associated with Parkinson's disease (PD). In this study, we aimed to investigate the association between rs12817488 and PD in a Chinese cohort. A total of 341 PD patients and 423 matched controls were recruited in Eastern China. Our results showed that the A allele of rs12817488 was significantly associated with an aggravated risk of PD (p = 0.006) and represented a major allele in contrast to a minor one in Caucasians. Genotype distributions also differed between PD patients and controls (p = 0.011 for AA/AG/GG). Further analysis showed that the association of rs12817488 with PD only existed in females. We also investigated the protein level of CCDC62 in peripheral blood mononuclear cells from 41 AA or GG carriers and found an apparently higher expression in PD patients carrying the AA genotype. A potential interaction was found between two estrogen-related loci, i.e. rs12817488/CCDC62 and rs2697962/PRDM2, particularly in the female stratum. In conclusion, our study demonstrated for the first time a significant association between the rs12817488 polymorphism and PD predisposition in a Chinese population with gender variations and provides new insight regarding the variant's protein expression and estrogen-related genetic interaction.
Asunto(s)
Predisposición Genética a la Enfermedad , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple , Factores de Transcripción/sangre , Factores de Transcripción/genética , Edad de Inicio , Alelos , Pueblo Asiatico/genética , Western Blotting , China/epidemiología , Estudios de Cohortes , Proteínas de Unión al ADN/genética , Femenino , Expresión Génica , Genotipo , Técnicas de Genotipaje , Heterocigoto , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Leucocitos Mononucleares/metabolismo , Masculino , Proteínas Nucleares/genética , Enfermedad de Parkinson/sangre , Riesgo , Factores SexualesRESUMEN
This study aimed to explore the diagnostic and prognostic values of contrast-enhanced ultrasound (CEUS) in breast cancer. Between September 2009 and October 2011, a total of 143 breast cancer patients and 161 healthy people were selected as case group and control group, respectively. After the identification of lesions by conventional ultrasound, all patients underwent CEUS. The CEUS images were analyzed, and time-intensity curves (TICs) were obtained. Hematoxylin-eosin and immunohistochemistry staining was performed on tissue specimens, according to which the expressions of estrogen receptor (ER), c-erb-B2, p53, and Ki-67 were measured. Multivariate logistic regression analysis was used to compare CEUS and TIC parameters between the two groups. Compared with the control group, cancer patients showed high enhancement, heterogeneous enhancement or defects in the central region, expansion of lesion diameter after enhancement and crab-like blur lesion edges. The peak intensity (PI), relative start time of enhancement, relative PI, and relative area under the curve in the case group were significantly higher than those in the control group. Logistic analysis showed that the uniformity of enhancement, expansion of lesion diameter, and relative PI were significant diagnostic parameters of breast cancer, with area under the curve being 0.798, 0.776, and 0.919, respectively. There were strong associations between CEUS characteristics and expressions of prognostic factors in breast cancer: the heterogeneous enhancement was common in c-erb-B2-positive tumors; the centripetal enhancement occurred more in ER-negative tumors; perforator vessels were often seen in tumors at high histological grade; perfusion defects were common in ER-negative, c-erb-B2-positive, and Ki-67-positive tumors. CEUS is a useful tool for the early diagnosis and prognosis of breast cancer.
RESUMEN
The association between the serotonin transporter gene (SLC6A4) polymorphisms, that is, 5-HTTLPR and rs25531, and Parkinson's disease (PD) remains to be further defined. We investigated this relationship in a Chinese cohort that comprised 504 PD patients and 504 controls. A total of 8 haplotypes and 14 genotypes of SLC6A4 were found in this population including a new variant of 5-HTTLPR, that is, 20G. Our results presented that 5-HTTLPR was associated with an aggravated risk for PD (p = 0.005). The rs25531 alone is not associated with PD susceptibility. However, in a sub-classification based on the impact of 5-HTTLPR and rs25531 on 5-HTT expression, we observed a significant difference in 5-HTT expressing distribution in the cohort, accompanied by an apparently lower level of 5-HTT high expressing group, that is, the LALA genotype, in the PD patients. Taken together, our data provide novel insight in support that the SLC6A4 polymorphisms, particularly 5-HTTLPR, and the serotonergic system are associated with PD etiology.
Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad/genética , Enfermedad de Parkinson/genética , Polimorfismo Genético/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Anciano , Pueblo Asiatico , Estudios de Cohortes , Femenino , Genotipo , Humanos , Masculino , Metaanálisis como Asunto , Persona de Mediana Edad , Enfermedad de Parkinson/metabolismo , Riesgo , Proteínas de Transporte de Serotonina en la Membrana Plasmática/metabolismoRESUMEN
Partial steal has been regarded as a classic ultrasound appearance of subclavian steal syndrome. We report a case with the vertebral artery origin stenosis and intact subclavian artery, which showed the similar partial steal ultrasound features. The following computerized tomography angiography confirmed the stenosis. Therefore, when an alternating flow in the vertebral artery is detected, the investigation of its origin must be performed besides the ipsilateral subclavian artery.