The genetic loci implicated in familial Parkinson's disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 298 PD cases and 301 age-matched controls for targeted resequencing (before QC), along with 363 PD genomes of Indian ancestry and 1029 publicly available whole genomes from India as healthy controls (IndiGenomes), to determine the frequency of monogenic SNCA mutations. The raw sequence reads were analyzed using an in-house analysis pipeline, allowing the detection of small variants and structural variants using Manta. The in-depth analysis of the SNCA locus did not identify missense or structural variants, including previously identified SNCA mutations, in the Indian population. The familial forms of SNCA gene variants do not play a major role in the Indian PD population and this warrants further research in the under-represented population.
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http://dx.doi.org/10.1038/s41531-024-00676-4 | DOI Listing |
Lancet Healthy Longev
December 2024
School of Translational Medicine, Monash University, Melbourne, VIC, Australia; Faculty of Medicine, Dentistry, and Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.
Dementia is a health priority for Indigenous peoples. Here, we reviewed studies on the prevalence of dementia or cognitive impairment among Indigenous populations from countries with a very high Human Development Index (≥0·8). Quality was assessed using the Joanna Briggs Institute risk-of-bias tool and CONSolIDated critERia for strengthening the reporting of health research involving Indigenous peoples (CONSIDER), with oversight provided by an Indigenous Advisory Board.
View Article and Find Full Text PDFJ Pediatr Urol
December 2024
Department of Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India. Electronic address:
Eur J Med Genet
December 2024
Department of Clinical Genetics, Our Lady's Children's Hospital, Children's' Health Ireland, Dublin, Republic of Ireland; Academic Centre on Rare Diseases, University College Dublin, Dublin, Republic of Ireland; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street Dublin, Republic of Ireland. Electronic address:
Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.
View Article and Find Full Text PDFKidney Int
December 2024
Department of Medical Statistics, London School of Hygiene & Tropical Medicine, London, UK.
The disadvantaged populations eGFR (estimated glomerular filtration rate) epidemiology (DEGREE) study was designed to gain insight into the burden of chronic kidney disease (CKD) of undetermined cause (CKDu) using standard protocols to estimate the general-population prevalence of low eGFR internationally. Therefore, we estimated the age-standardized prevalence of eGFR under 60 ml/min per 1.73m in adults aged 18-60, excluding participants with commonly known causes of CKD; an ACR (albumin/creatinine ratio) over 300 mg/g or equivalent, or self-reported or measured (HT) hypertension or (DM) diabetes mellitus, stratified by sex and location.
View Article and Find Full Text PDFJ Theor Biol
December 2024
Agricultural and Ecological Research Unit, Indian Statistical Institute, 203, B.T. Road, Kolkata, 700108, West Bengal, India.
Coral reefs are critical ecosystems, fostering biodiversity and sustaining the livelihoods of millions globally. Nonetheless, they confront escalating threats, with infectious diseases emerging as primary catalysts for extensive damage, surpassing the impacts of other human-induced stressors. Disease transmission via biotic factors, particularly during fish predation, is a crucial yet often overlooked pathway.
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