The choice of genetic models was main difficulty in the meta-analysis of gene-disease association studies. In this study, we made a further discussion about the genetic model-free approach that proposed by Minelli et al. The program that coded by JAGS and R was carried out to perform the Bayesian procedure. In a real example, several kinds of prior distribution were used, including non-informative prior distribution and external clinical prior information. Especially, compared to Minelli’s study, we introduced clinical prior information. The results indicated that the pooled results were rather robust no matters the prior distribution were non-informative or informative, especially when the number of included studies were large.
With the exacerbation of aging population in China, the number of patients with Alzheimer's disease (AD) is increasing rapidly. AD is a chronic but irreversible neurodegenerative disease, which cannot be cured radically at present. In recent years, in order to intervene in the course of AD in advance, many researchers have explored how to detect AD as early as possible, which may be helpful for effective treatment of AD. Imaging genomics is a kind of diagnosis method developed in recent years, which combines the medical imaging and high-throughput genetic omics together. It studies changes in cognitive function in patients with AD by extracting effective information from high-throughput medical imaging data and genomic data, providing effective guidance for early detection and treatment of AD patients. In this paper, the association analysis of magnetic resonance image (MRI) with genetic variation are summarized, as well as the research progress on AD with this method. According to complexity, the objects in the association analysis are classified as candidate brain phenotype, candidate genetic variation, genome-wide genetic variation and whole brain voxel. Then we briefly describe the specific methods corresponding to phenotypic of the brain and genetic variation respectively. Finally, some unsolved problems such as phenotype selection and limited polymorphism of candidate genes are put forward.
ObjectiveTo conduct a two-sample Mendelian randomization (MR) study to assess the bidirectional causal relationship between multiple sclerosis and inflammatory bowel disease. MethodsWe performed two-sample bidirectional MR analysis using publicly available genome-wide association study (GWAS) data. The primary analysis method used was the inverse variance weighted (IVW) method, with MR-Egger weighted median as a supplementary analysis. Sensitivity analyses were conducted. ResultsIVW, weighted median, and weighted mode all supported a causal relationship between multiple sclerosis and an increased risk of ulcerative colitis (OR=1.07, 95%CI 1.01 to 1.13, P=0.018), while no association was found between multiple sclerosis and Crohn's disease. Sensitivity analyses suggested that the study results were not affected by pleiotropy. ConclusionGenetic predisposition to multiple sclerosis is associated with an elevated risk of developing ulcerative colitis but not Crohn’s disease.
ObjectiveTo explore the causal association between venous thromboembolism (VTE) and cardiovascular disease (CVD) risks using a two-sample bidirectional Mendelian randomization (MR) study. MethodsThe single-nucleotide polymorphism (SNP) data associated with VTE and CVD from genome-wide association studies were obtained as instrumental variables. Inverse variance weighted (IVW) was used as the main MR method and other methods were used as supplementary methods. Cochran's Q test, the intercept term of MR-Egger, and MR-PRESSO were used to assess pleiotropy and heterogeneity to ensure the robustness of the results. ResultsThe IVW method suggested a causal association between VTE and atrial fibrillation (OR=1.033, 95%CI 1.009 to 1.058, P=0.008), but no association was identified between VTE and coronary artery disease (OR=0.994, 95%CI 0.974 to 1.023, P = 0.551), heart failure (OR=1.021, 95%CI 0.992 to 1.050, P=0.159) and myocardial infarction (OR=1.012, 95%CI 0.971 to 1.055, P=0.568). The results of Cochran's Q test showed that there was no heterogeneity in the MR analyses of VTE and CVD. The MR-Egger intercept analysis and the MR-PRESSO global testing did not detect potential horizontal pleiotropy, and the results were robust. Reverse MR analysis was used to verify the presence of reverse causal associations. The reverse MR analysis demonstrated that reverse causal associations between VTE and CVD were not evidenced. ConclusionThe results of the MR study demonstrated a causal association between VTE and atrial fibrillation, but not with coronary artery disease, heart failure or myocardial infarction.
Epigenetics refers to the modification effect of external and internal environmental factors on genes under the premise of the unaltered genetic sequence, leading to changes in gene expression level or function, and thereby affecting various phenotypes or disease outcomes. In recent years, epigenetics has attracted increasing attention. Among them, DNA methylation has been shown to be closely related to human development and the development of disease. However, the high-dimensional omics data generated by genome-wide methylation detection can comprehensively reflect the overall and local epigenetic modifications at the genome level, which has become one of the main research contents in this field. Based on genome-wide methylation chip data, this paper summarized the quality control process of this omics data, common epigenetic omics correlation statistical analysis methods and ideas, and visualization realization of main results based on SAS JMP Genomics 10 software, so as to provide reference for similar studies.
Objective To investigate the role of participation in academic student associations in enhancing the scientific innovation capability and comprehensive quality of undergraduate medical students. MethodsThis study was conducted from November to December 2022. Undergraduate medical students majoring in clinical medicine (five-year program) in grade 2017 and 2018 at West China School of Medicine of Sichuan University were included in the study. These students were divided into two groups based on their participation in a five-star academic student associations of West China School of Medicine: the exposure group and the control group. The study compared the average scores of compulsory courses during the first four years of undergraduate study, competency multi-station assessment scores, comprehensive quality assessment scores, and scientific innovation capability between the two groups. Subgroup and stratification analyses were also conducted based on grade level and average scores of compulsory courses. Results A total of 433 students were surveyed. Among them, there were 348 students in the control group and 85 students in the exposure group. The average scores of compulsory courses, competency multi-station assessment scores, comprehensive quality assessment scores, and scientific innovation capability of students in the exposure group were higher than those of students in the control group (P＜0.05). Similar results were observed in subgroup analysis by grade level. The sub group analysis of the average scores of compulsory courses showed that in tertileⅠ(≥ 85 and ≤ 100 points) and tertileⅡ (≥ 80 and<85 points), the competency multi-station assessment scores, comprehensive quality assessment scores, and scientific innovation capability of the exposure group were higher than those of the control group (P<0.05). However, in tertile Ⅲ (>0 and<80 points), the exposure group showed better scores in competency multi-station assessment scores and scientific innovation capability than the control group (P<0.05). Conclusion Participation in academic student associations can effectively improve the scientific innovation capability and comprehensive quality of students with medium and above grades.
At present, the rapid integration and development of internet technology and medical services have made internet diagnosis and treatment an important part of medical services, and it is also an inevitable development trend of future diagnosis and treatment services. In order to meet the needs of patients for more timely, accurate and convenient medical treatment, West China Hospital of Sichuan University has innovated the internet diagnosis and treatment mode, adopted the innovative mode of diversified online services, pre-treatment mode, expert team mode, specialized medical consortium platform and whole process management, optimized medical resources and structure, promoted regional medical association linkage, and improved patients’ medical experience. The West China Internet Hospital of Sichuan University takes the whole process ecological closed-loop of “medical+health” as the goal, has greatly improved the efficiency and quality of diagnosis and treatment, which is of great significance for the positioning and development of internet hospital. This article will share the construction experience of West China Internet Hospital of Sichuan University.
The association between single nucleotide polymorphism and disease is a typical representation of genetic association studies. Compared with the traditional dichotomous data, single nucleotide polymorphism data has its own characteristics, and 5 genetic models are commonly performed in meta-analysis. In this paper, we show how to use the " meta” package in R software to conduct meta-analysis of single nucleotide polymorphism research through examples.
ObjectiveTo investigate the significance of expression and correlation of pyruvate kinase M2 (PKM2) and yes association protein (YAP) in hepatocellular carcinoma (HCC) tissue, and then explore the relationship between the 2 kinds of protein. MethodsA total of 120 patients' HCC tissues and adjacent tissues were collected retrospectively, who treated in our hospital from Apr. 2010 to Oct. 2013, the expressions of PKM2 and YAP protein in these HCC tissues and adjacent tissues were detected by SP immunohistochemical method, and then analyzed the relationship between the expressions of PKM2 and YAP ptotein with the clinicopathological features of HCC. Of the 120 patients, the expressions of YAP and PKM2 protein and its mRNA in 50 cases of HCC tissues and adjacent tissues were also examined by Western blot and real-time PCR methods respectively. Results① The immunohistochemical results showed that, the positive rate of PKM2 protein and YAP protein in HCC tissues were 67.50% (81/120) and 71.67% (86/120) respectively, which were both higher than those of adjacent tissues[PKM2 protein:20.83% (25/120); YAP protein:29.17% (35/120)], P < 0.050. ② The expression of PKM2 protein was significantly positively correlated with the expression of YAP protein in HCC tissues (r=0.519, P < 0.001). ③ In HCC tissues, the expression of PKM2 protein was significantly correlated with the diameter of tumor, TNM staging, differentiation of HCC, and lever of alpha fetal protein (P < 0.050), and the expression of YAP protein was significantly correlated with the differentiation of HCC and lever of alpha fetal protein (P < 0.050). ④ Western blot results showed that, the expression levels of PKM2 protein and YAP protein in HCC tissues were 1.25± 0.11 and 1.08±0.10 respectively, which were significantly higher than those of adjacent tissues (PKM2 protein:0.38±0.01, YAP protein:0.41±0.02), P < 0.050. ⑤ Real-time PCR assays results showed that, basing the expressions of PKM2 mRNA and YAP mRNA in adjacent tissues (both as 1), expressions of PKM2 mRNA and YAP mRNA in HCC tissues were 11.38±0.35 and 19.96±0.48 respectively, which were both higher than those of adjacent tissues (P < 0.050). ConclusionPKM2 and YAP protein were related to the initiation of HCC, and they were also closely correlated with the differentiation and prognosis of HCC.
Hypertension is a strong risk factor for atherosclerotic cardiovascular disease (ASCVD), heart failure, and microvascular complications. Hypertension is common among patients with diabetes. Recently, the American Diabetes Association (ADA) published a new position statement which updated the assessment and treatment for hypertensive patients with diabetes. This interpretation is intended to help Chinese clinicians to understand the new ADA position statement.