We sequenced the genome of a Pakistani male at 25.5x coverage using massively parallel sequencing technology. More than 90% of the sequence reads were mapped to the human reference genome. In subsequent analysis, we identified 3,224,311 single-nucleotide polymorphisms (SNPs), of which 388,532 (12% of the total SNPs) had not been previously recorded in single nucleotide polymorphism database (dbSNP) or the 1000 Genomes Project database. The 5991 non-synonymous coding variants were screened for deleterious or disease-associated SNPs. Analysis of genes with deleterious SNPs identified 'retinoic acid signaling' and 'regulation of transcription' as the enriched Gene Ontology terms. Scanning of non-synonymous SNPs against the OMIM revealed several disease and phenotype-associated variants in Pakistani genome. Comparative analysis with Indian genome sequence revealed >1.8 million shared SNPs; 32% of which were annotated in ~14,000 genes. Gene Ontology (GO) terms analysis of these genes identified 'response to jasmonic acid stimulus', 'aminoglycoside antibiotic metabolic process' and 'glycoside metabolic process' with considerable enrichment. A total of 59,558 of small indels (1-5 bp) and 16,063 large structural variations were found; 54% of which was novel. Substantial number of novel structural variations discovered in Pakistani genome enforced previous inferences that (a) structural variations are major type of variation in the genome and (b) compared with SNPs, they putatively exhibit equivalent or superior functional roles. This genome sequence information will be an important reference for population-wide genomics studies of ethnically diverse South Asian subcontinent.
BackgroundSuicidal thoughts and depression are associated with patients with diabetes, especially patients with low socioeconomic backgrounds and prolonged illness.ObjectiveWe aimed to estimate suicidal thoughts and depression among patients with type 2 diabetes (T2D) in the slums of Karachi.MethodsThis cross-sectional study was conducted across 38 locations in the slums of Karachi to understand depression, suicidal thoughts, and other supporting factors of depression associated with T2D. The three-item Oslo Social Support Scale, the Patient Health Questionnaire-9 (PHQ-9) scale, and the Ask Suicide Screening Questions were used to screen the patients.ResultsA total of 504 study participants were interviewed, with a response rate of 98%. The prevalence of depression among patients with diabetes was 30.83%, and suicidal ideation was 20.39%. In the final multivariate analysis, being socioeconomically poor, physically disabled, and having poor social support were independent predictors of depression.ConclusionDiabetes, low socioeconomic level, a lack of social support, and physical disability were all linked to depression. Therefore, trained health providers should conduct an early depression-focused routine screening for patients with diabetes.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.