ABSTRACT
ABSTRACT: Objective To explore the correlation between 4 tag single nucleotide polymorphisms ï¼Tag SNPï¼ sites ï¼rs7721799, rs32897, rs7718461, rs10062367ï¼ of corticotropin releasing hormone binding protein ï¼CRHBPï¼ and schizophrenia and aggressive behavior in the Yunnan Han population. Methods Case-control correlation analysis was used to establish a complex amplification system. Improved multiplex ligase detection reaction ï¼iMLDRï¼ technology was used to detect the genotypes of 4 SNP sites of CRHBP gene of 163 Han schizophrenic patients ï¼including 81 patients with aggressive behavior, 82 patients without aggressive behaviorï¼ and 345 healthy Han individuals, which were analyzed statistically by SPSS 19.0, Haploview 4.2 and PHASE 2.1 software. Results There was no correlation between the 3 SNP sites of CRHBP gene and the onset of schizophrenia except for the rs7718461 site ï¼P>0.05ï¼. The relative risk of aggressive behavior of patients carrying GG or GA genotype at rs7718461 site were 4.903 times higher than those carrying AA genotype ï¼P<0.05ï¼. Conclusion The CRHBP gene may not be associated with the occurrence of schizophrenia in Yunnan Han population, but AA genotype of rs7718461 may reduce the risk of aggressive behavior in schizophrenia patients.
Subject(s)
Carrier Proteins , Schizophrenia , Asian People/genetics , Carrier Proteins/genetics , China , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Polymorphism, Single Nucleotide , Schizophrenia/geneticsABSTRACT
ABSTRACT: Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death ï¼YNSUDï¼ in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages ï¼inpatient groupï¼ and 197 healthy Yi villagers from neighboring villages ï¼control groupï¼. Fifty-two single nucleotide variants ï¼SNVsï¼ of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry ï¼MALDI-TOF-MSï¼. The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram ï¼ECGï¼ examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 ï¼rs2278792, c.2318G>A, p.R773Kï¼ of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy ï¼ARVCï¼ in inpatient group was higher than that in control group ï¼P<0.05ï¼. Abnormal ECG changes were detected in 71 individuals ï¼34.6%ï¼ in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise ï¼counterclockwiseï¼ rotation, left ï¼rightï¼ axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.
Subject(s)
Arrhythmogenic Right Ventricular Dysplasia , Ethnicity , China/epidemiology , Death, Sudden/epidemiology , Death, Sudden/etiology , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Ethnicity/genetics , Humans , Incidence , MutationABSTRACT
Hepatitis C virus (HCV) has become a global public health problem. Many studies have been conducted to identify risk factors for HCV infection. However, some of these studies reported inconsistent results. Using data collected from 11 methadone clinics, we fit both a non-spatial logistical regression and a geographically weighted logistic regression to analyse the association between HCV infection and some factors at the individual level. This study enrolled 5401 patients with 30·0% HCV infection prevalence. The non-spatial logistical regression found that injection history, drug rehabilitation history and senior high-school education or above were related to HCV infection; and being married was negatively associated with HCV infection. Using the spatial model, we found that Yi ethnicity was negatively related to HCV infection in 62·0% of townships, and being married was negatively associated with HCV infection in 81·0% of townships. Senior high-school education or above was positively associated with HCV infection in 55·2% of townships of the Yi Autonomous Prefecture. The spatial model offers better understanding of the geographical variations of the risk factors associated with HCV infection. The geographical variations may be useful for customizing intervention strategies for local regions for more efficient allocation of limited resources to control transmission of HCV.