Mutation burden in sun exposed eyelid MSSE
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001002512 | EGA |
REPOSITORIES: EGA
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Project description:The Malaysian Node of the Human Variome Project Database (MyHVPDb) is a country specific database of human variant and gene mutation that was established in 2011. This ethnic specific mutation and variation databases are being continuously updated, recording extensive information over the genetic heterogeneity of the Malaysian ethnic groups. The database comprises of SNP Database and Mutation Database. The SNP database has stored 291718 SNPs that was obtained by genotyping the SNPs of 101 healthy individuals from six Malay sub-ethnic groups which consist of Malay Kelantan, Malay Banjar, Malay Kedah, Malay Jawa, Malay Bugis and Malay Champa.
2015-02-11 | GSE65760 | GEO
Project description:The Malaysian Node of the Human Variome Project Database (MyHVPDb) is a country specific database of human variant and gene mutation that was established in 2011. This ethnic specific mutation and variation databases are being continuously updated, recording extensive information over the genetic heterogeneity of the Malaysian ethnic groups. The database comprises of SNP Database and Mutation Database. The SNP database has stored 291718 SNPs that was obtained by genotyping the SNPs of 101 healthy individuals from six Malay sub-ethnic groups which consist of Malay Kelantan, Malay Banjar, Malay Kedah, Malay Jawa, Malay Bugis and Malay Champa. Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from blood samples.
2015-02-11 | E-GEOD-65760 | biostudies-arrayexpress
Project description:Context: Insulin resistance (IR) and obesity differ between ethnic groups in Singapore, with discordant rates of obesity and IR between several ethnic groups. However, the molecular basis underlying these differences are not clear. Objective: As the skeletal muscle (SM) is metabolically relevant to IR, we investigated molecular pathways in SM that are associated with ethnic differences in IR, obesity and related traits. Design, Setting and Main Outcome measures: We integrated transcriptomic, genomic and phenotypic analyses in 156 healthy subjects representing three major ethnicities in the Singapore Adult Metabolism Study. Patients: The study contains Chinese (n=63), Malay (n=51) and Asian-Indian (n=42) males, aged 21-40 years, without systemic diseases. Results: We found remarkable diversity in the SM transcriptome between the three ethnicities with >8,000 differentially expressed genes (40% of all genes expressed in SM). Comparison with blood transcriptome from a separate Singaporean cohort showed that >95% of SM expression differences between ethnicities were unique to SM. We identified a network of 46 genes that were specifically down-regulated in Malays, suggesting dysregulation of components of cellular respiration in SM of Malay individuals. We also report 28 differentially expressed gene-clusters, four of which were also enriched for genes that were found in GWAS of metabolic traits and disease and correlated with variation in IR, obesity and related traits. Conclusion: We identified extensive gene expression changes in SM between the three Singaporean ethnicities, and report specific genes and molecular pathways that might underpin and explain the differences in IR between these ethnic groups.
2019-07-23 | GSE117339 | GEO
Project description:The discovery of blood-based proteomics biomarkers is recently a popular topic in AD studies due to its advantage to relate external environmental factors with the development of AD. In this study, a proteomic study based on Malaysian Chinese and Malay prospects was conducted. Differentially expressed proteins (DEPs) in AD patients and normal controls for Chinese and Malays were identified. The dissimilarities of dysregulated proteins identified in Chinese and Malays samples suggested the differences of pathways involved in this pathological condition for each respective ethnicity: the Chinese group was involved to Aβ/tau protein-related, oxidative stress and inflammation whereas neuroinflammation was related to the Malays. These findings served as a preliminary understanding in the molecular studies of AD especially in multi-ethnic population.
2024-06-10 | PXD040566 | Pride
Project description:BackgroundSkin cancer is among the most common cancer types with an increasing global trend of incidence rate. This study explores the spatial distribution of skin cancer, considering body sites exposed and not exposed to sunshine separately.MethodsWe used 4302 skin cancer cases recorded by Fars Cancer Registry in south-western Iran for over 6 years (2011-2017). The variables included in the study were patients' residence address, gender, age, report date, and final topographical code. The patients' addresses were geocoded to the counties of the study area. Skin cancer sites were categorized based on sun exposure in male and female cases. We used the empirical Bayesian smoothing approach to smooth the skin cancer incidence rate at the county level to remove any potential population size bias. Finally, Anselin's Local Moran's Index and Getis Ord G* were used to identify the clustered and high-risk skin cancer geographical areas.ResultsThe incidence rates had an increasing trend from 14.28 per 100,000 people in 2011 to 17.87 per 100,000 people in 2016, however, it was decreased to 13.05 per 100,000 people in 2017. Out of 4302 patients with skin cancer, 2602 cases (60%) were male. The cancer cumulative incidence rate in males and females who were not exposed to sunshine was 7.80 and 14.18 per 100,000, respectively. The rates increased to 86.22 and 48.20 in males and females who were exposed to the sun. There were some high-risk spatial clusters of skin cancer in the study area. Further investigations are required to identify the underlying cause of the formation of these clusters.ConclusionsPatients exposed to sunshine, especially among the male group, experienced much higher rates of cancer occurrence as compared to unexposed individuals. With a heterogeneous spatial pattern, hotspots were identified in non-sun-exposed and sun-exposed categories in the study area. Researchers and policymakers can significantly benefit from the spatial analyses of skin cancer incidence. These analyses can provide useful and timely prevention policies as well as tailored monitoring techniques in high-risk regions.
| S-EPMC8772111 | biostudies-literature
Project description:Affymetrix SNP array data for Healthy Individual Malay Sub-Ethnic Group
| PRJNA275140 | ENA
Project description:Splenic tissue was isolated from four adult male Indian-origin Rhesus monkeys serologically positive for non-pathogenic SHIV 89.6 and from matched uninfected four adult male Indian-origin Rhesus monkeys respectively. The corresponding RNA was processed by cDNA microarray analysis. Keywords: SIV infection
2006-03-29 | GSE4177 | GEO
Project description:In this study we explored the effects of chronological and photoageing on the miRNome of human skin. To this end, miRNA expression was analysed in biopsies collected from sun-exposed (outer arm) and sun-protected (inner arm) skin from fair-skinned (phototype II/III) healthy female volunteers of two age groups: young, 18-25 years and aged, >70 years. Strict inclusion criteria were used for photoageing scoring and for chronological ageing. Microarray analysis revealed that chronological ageing had minor effect on the human skin miRNome. In contrast, photoageing had a robust impact on miRNAs, and a set of miRNAs differentially expressed between sun-protected and sun-exposed skin of the young and aged groups was identified. We have performed miRNome analysis (using microarray) on RNA isolated from sun-exposed and sun-protected skin of young and old females
2018-08-31 | GSE114006 | GEO
Project description:Identification of chromosomal deletion and duplications in childhood acute lymphoblastic leukemia with t(12;21). This study was performed to correlate clinical parameters with chromosomal aberrations by array-CGH and to identify other potential novel cancer genes involved in leukaemia. In brief, PALL-6 was a Malay male diagnosed with B-ALL, had undergone a remission but late relapse and passed away. He was assessed under medium risk. PALL-7 is a Malay male and has a medium risk assessment, and is currently in remission. PALL-8 is a Malay female and has a medium risk assessment, and is currently in remission. PALL-9 is a Chinese male and has a high risk assessment, and is currently in remission. PALL-10 is a Malay male and has a standard risk assessment, had a relapse but is currently in remission. PALL-11 was a Malay male and had a medium risk assessment, but died during transplant.
2012-06-20 | GSE32897 | GEO
Project description:Snakebite is a major public health concern in many parts of the world, including India, where over 58,000 deaths occur annually due to this highly neglected tropical disease. The common krait (Bungarus caeruleus), one of the ‘big four’ Indian snakes, is responsible for the second-highest number of snakebite-related deaths in the country. The venom protein composition of common krait venoms from different locations were investigated. Venoms were pre-fractionated using RP-HPLC and SDS-PAGE, and subjected to mass spectromentry analysis. The relative abundance of each toxin family was estimated and compared across different locations.
2024-11-02 | PXD052611 | Pride