Genetic forms and pathophysiology of essential arterial hypertension in minor indigenous peoples of Russia.
ABSTRACT: BACKGROUND:To study the genetic forms and pathophysiology of arterial hypertension by evaluating plasma renin activity in the Shors, minor indigenous peoples inhabiting the south of Western Siberia. METHODS:A single-stage study of indigenous (the Shors) and non-indigenous peoples living in the villages of Gornaya Shoria of the Kemerovo region in the south of Western Siberia was conducted in the period from 2013 to 2017. One thousand four hundred nine adults (901 Shors and 508 non-indigenous inhabitants) were recruited in the study using a continuous sampling plan. Arterial blood pressure was measured according to 2018 ESC/ESH guidelines for the management of arterial hypertension. All the respondents underwent clinical and instrumental examination. Plasma renin activity was determined by enzyme-linked immunoassay with the BRG kits (Germany). Polymorphisms of ACE (I/D, rs 4340), ?GT (c.803?T?>?C, rs699), AGTR1 (?1166?, rs5186), ADRB1 (?.145A?>?G, Ser49Gly, rs1801252) and ADRA2B (I/D, rs 28,365,031) genes were tested using polymerase chain reaction. RESULTS:Renin-dependent hypertensive patients prevailed in both ethnic groups (65.6% in the indigenous group vs. 89.8% in the non-indigenous group, p?=?0.001). Prevalence of a volume-dependent AH was low in both groups (34.4% in the indigenous group vs. 10.2% in the non-indigenous group, ??=?0.001). The D/D and ?/? genotypes of the ??? [OR?=?6.97; 95% CI (1.07-55.58)] and AGT [OR?=?3.53; 95% CI (1.02-12.91)] genes were associated with the renin-dependent AH in the Shors. The C/C genotype of AGTR1 gene was found to predispose to the volume-dependent AH [OR?=?5.25; 95% CI (1.03-27.89)]. The C/C genotype of AGTR1 gene was associated with moderate or high renin levels suggesting essential AH in the non-indigenous group [OR?=?5.00; 95% CI (1.21-22.30), ??=?0.029]. CONCLUSION:An in-depth understanding of AH pathophysiology and its genetic forms ensures the optimal choice of blood pressure-lowering treatment and optimizes AH control.
Project description:The Circumpolar North has been changing rapidly within the last decades, and the socioeconomic systems of the Eurasian Arctic and Siberia in particular have displayed the most dramatic changes. Here, anthropogenic drivers of environmental change such as migration and industrialization are added to climate-induced changes in the natural environment such as permafrost thawing and increased frequency of extreme events. Understanding and adapting to both types of changes are important to local and indigenous peoples in the Arctic and for the wider global community due to transboundary connectivity. As local and indigenous peoples, decision-makers and scientists perceive changes and impacts differently and often fail to communicate efficiently to respond to changes adequately, we convened a meeting of the three groups in Salekhard in 2017. The outcomes of the meeting include perceptions of how the three groups each perceive the main issues affecting health and well-being and recommendations for working together better.
Project description:Siberia and Northwestern Russia are home to over 40 culturally and linguistically diverse indigenous ethnic groups, yet genetic variation and histories of peoples from this region are largely uncharacterized. We present deep whole-genome sequencing data (?38×) from 28 individuals belonging to 14 distinct indigenous populations from that region. We combined these data sets with additional 32 modern-day and 46 ancient human genomes to reconstruct genetic histories of several indigenous Northern Eurasian populations. We found that Siberian and East Asian populations shared 38% of their ancestry with a 45,000-yr-old Ust'-Ishim individual who was previously believed to have no modern-day descendants. Western Siberians trace 57% of their ancestry to ancient North Eurasians, represented by the 24,000-yr-old Siberian Mal'ta boy MA-1. Eastern Siberian populations formed a distinct sublineage that separated from other East Asian populations ?10,000 yr ago. In addition, we uncovered admixtures between Siberians and Eastern European hunter-gatherers from Samara, Karelia, Hungary, and Sweden (from 8000-6600 yr ago); Yamnaya people (5300-4700 yr ago); and modern-day Northeastern Europeans. Our results provide new insights into genetic histories of Siberian and Northeastern European populations and evidence of ancient gene flow from Siberia into Europe.
Project description:The prairie provinces of Canada.To characterize tuberculosis (TB) transmission among the Indigenous and non-Indigenous Canadian-born peoples of the prairie provinces of Canada.A prospective epidemiologic study of consecutively diagnosed adult (age ? 14 years) Canadian-born culture-positive pulmonary TB cases on the prairies, hereafter termed "potential transmitters," and the transmission events generated by them. "Transmission events" included new positive tuberculin skin tests (TSTs), TST conversions, and secondary cases among contacts.In the years 2007 and 2008, 222 potential transmitters were diagnosed on the prairies. Of these, the vast majority (198; 89.2%) were Indigenous peoples who resided in either an Indigenous community (135; 68.2%) or a major metropolitan area (44; 22.2%). Over the 4.5-year period between July 1st, 2006 and December 31st 2010, 1085 transmission events occurred in connection with these potential transmitters. Most of these transmission events were attributable to potential transmitters who identified as Indigenous (94.5%). With a few notable exceptions most transmitters and their infected contacts resided in the same community type. In multivariate models positive smear status and a higher number of close contacts were associated with increased transmission; adjusted odds ratios (ORs) and 95% confidence intervals (CIs), 4.30 [1.88, 9.84] and 2.88 [1.31, 6.34], respectively. Among infected contacts, being Indigenous was associated with disease progression; OR and 95% CI, 3.59 [1.27, 10.14] and 6.89 [2.04, 23.25] depending upon Indigenous group, while being an infected casual contact was less likely than being a close contact to be associated with disease progression, 0.66 [0.44, 1.00].In the prairie provinces of Canada and among Canadian-born persons, Indigenous peoples account for the vast majority of cases with the potential to transmit as well as the vast majority of infected contacts. Active case finding and preventative therapy measures need to focus on high-incidence Indigenous communities.
Project description:BACKGROUND:Suicide is the second leading cause of death among adolescents worldwide, and is a major driver of health inequity among Indigenous people in high-income countries. However, little is known about the burden of suicide among Indigenous populations in low- and middle-income nations, and no synthesis of the global data is currently available. Our objective was to examine the global incidence of suicide among Indigenous peoples and assess disparities through comparisons with non-Indigenous populations. METHODS:We conducted a systematic review of suicide rates among Indigenous peoples worldwide and assessed disparities between Indigenous and non-Indigenous populations. We performed text word and Medical Subject Headings searches in PubMed, MEDLINE, Embase, Cumulative Index of Nursing and Allied Health (CINAHL), PsycINFO, Latin American and Caribbean Health Sciences Literature (LILACS), and Scientific Electronic Library Online (SciELO) for observational studies in any language, indexed from database inception until June 1, 2017. Eligible studies examined crude or standardized suicide rates in Indigenous populations at national, regional, or local levels, and examined rate ratios for comparisons to non-Indigenous populations. RESULTS:The search identified 13,736 papers and we included 99. Eligible studies examined suicide rates among Indigenous peoples in 30 countries and territories, though the majority focused on populations in high-income nations. Results showed that suicide rates are elevated in many Indigenous populations worldwide, though rate variation is common, and suicide incidence ranges from 0 to 187.5 suicide deaths per 100,000 population. We found evidence of suicide rate parity between Indigenous and non-Indigenous populations in some contexts, while elsewhere rates were more than 20 times higher among Indigenous peoples. CONCLUSIONS:This review showed that suicide rates in Indigenous populations vary globally, and that suicide rate disparities between Indigenous and non-Indigenous populations are substantial in some settings but not universal. Including Indigenous identifiers and disaggregating national suicide mortality data by geography and ethnicity will improve the quality and relevance of evidence that informs community, clinical, and public health practice in Indigenous suicide prevention.
Project description:The Turkic peoples represent a diverse collection of ethnic groups defined by the Turkic languages. These groups have dispersed across a vast area, including Siberia, Northwest China, Central Asia, East Europe, the Caucasus, Anatolia, the Middle East, and Afghanistan. The origin and early dispersal history of the Turkic peoples is disputed, with candidates for their ancient homeland ranging from the Transcaspian steppe to Manchuria in Northeast Asia. Previous genetic studies have not identified a clear-cut unifying genetic signal for the Turkic peoples, which lends support for language replacement rather than demic diffusion as the model for the Turkic language's expansion. We addressed the genetic origin of 373 individuals from 22 Turkic-speaking populations, representing their current geographic range, by analyzing genome-wide high-density genotype data. In agreement with the elite dominance model of language expansion most of the Turkic peoples studied genetically resemble their geographic neighbors. However, western Turkic peoples sampled across West Eurasia shared an excess of long chromosomal tracts that are identical by descent (IBD) with populations from present-day South Siberia and Mongolia (SSM), an area where historians center a series of early Turkic and non-Turkic steppe polities. While SSM matching IBD tracts (> 1cM) are also observed in non-Turkic populations, Turkic peoples demonstrate a higher percentage of such tracts (p-values ? 0.01) compared to their non-Turkic neighbors. Finally, we used the ALDER method and inferred admixture dates (~9th-17th centuries) that overlap with the Turkic migrations of the 5th-16th centuries. Thus, our results indicate historical admixture among Turkic peoples, and the recent shared ancestry with modern populations in SSM supports one of the hypothesized homelands for their nomadic Turkic and related Mongolic ancestors.
Project description:Coastal Indigenous peoples rely on ocean resources and are highly vulnerable to ecosystem and economic change. Their challenges have been observed and recognized at local and regional scales, yet there are no global-scale analyses to inform international policies. We compile available data for over 1,900 coastal Indigenous communities around the world representing 27 million people across 87 countries. Based on available data at local and regional levels, we estimate a total global yearly seafood consumption of 2.1 million (1.5 million-2.8 million) metric tonnes by coastal Indigenous peoples, equal to around 2% of global yearly commercial fisheries catch. Results reflect the crucial role of seafood for these communities; on average, consumption per capita is 15 times higher than non-Indigenous country populations. These findings contribute to an urgently needed sense of scale to coastal Indigenous issues, and will hopefully prompt increased recognition and directed research regarding the marine knowledge and resource needs of Indigenous peoples. Marine resources are crucial to the continued existence of coastal Indigenous peoples, and their needs must be explicitly incorporated into management policies.
Project description:The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians) from the Tyva Republic and Altai Republic (Southern Siberia, Russia) and proposed the founder effect as a cause for their high rates in these populations. To reconstruct the haplotypes associated with each of these mutations, the genotyping of polymorphic genetic markers both within and flanking the GJB2 gene was performed in 28 unrelated individuals homozygous for c.516G>C (n = 18), c.-23+1G>A (n = 6), or c.235delC (n = 4) as well as in the ethnically matched controls (62 Tuvinians and 55 Altaians) without these mutations. The common haplotypes specific for mutations c.516G>C, c.-23+1G>A, or c.235delC were revealed implying a single origin of each of these mutations. The age of mutations estimated by the DMLE+ v2.3 software and the single marker method is discussed in relation to ethnic history of Tuvinians and Altaians. The data obtained in this study support a crucial role of the founder effect in the high prevalence of GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in indigenous populations of Southern Siberia.
Project description:BACKGROUND:The lack of attention to Indigenous epistemologies and, more broadly, Indigenous values in primary research, is mirrored in the standardised critical appraisal tools used to guide evidence-based practice and systematic reviews and meta-syntheses. These critical appraisal tools offer no guidance on how validity or contextual relevance should be assessed for Indigenous populations and cultural contexts. Failure to tailor the research questions, design, analysis, dissemination and knowledge translation to capture understandings that are specific to Indigenous peoples results in research of limited acceptability and benefit and potentially harms Indigenous peoples. A specific Aboriginal and Torres Strait Islander Quality Appraisal Tool is needed to address this gap. METHOD:The Aboriginal and Torres Strait Islander Quality Appraisal Tool (QAT) was developed using a modified Nominal Group and Delphi Techniques and the tool's validity, reliability, and feasibility were assessed over three stages of independent piloting. National and international research guidelines were used as points of reference. Piloting of the Aboriginal and Torres Strait Islander QAT with Aboriginal and Torres Strait Islander and non-Indigenous experts led to refinement of the tool. RESULTS:The Aboriginal and Torres Strait Islander QAT consists of 14 questions that assess the quality of health research from an Aboriginal and Torres Strait Islander perspective. The questions encompass setting appropriate research questions; community engagement and consultation; research leadership and governance; community protocols; intellectual and cultural property rights; the collection and management of research material; Indigenous research paradigms; a strength-based approach to research; the translation of findings into policy and practice; benefits to participants and communities involved; and capacity strengthening and two-way learning. Outcomes from the assessment of the tool's validity, reliability, and feasibility were overall positive. CONCLUSION:This is the first tool to appraise research quality from the perspective of Indigenous peoples. Through the uptake of the Aboriginal and Torres Strait Islander QAT we hope to improve the quality and transparency of research with Aboriginal and Torres Strait Islander peoples, with the potential for greater improvements in Aboriginal and Torres Strait Islander health and wellbeing.
Project description:Although possessing different anthropological origins, there are similarities in the epidemiology of end-stage kidney disease (ESKD) among the indigenous peoples of Australia (the Australian Aborigines and Torres Strait Islanders) and New Zealand (Maori and Pacific Peoples). In both countries there is a substantially increased rate of ESKD among these groups. This is more marked in Australia than in New Zealand, but in both countries the relative rate (in comparison to non-indigenous rates) as well as absolute rate have nearly stabilized in recent years. The excess risk affects females particularly-in contrast to the non-indigenous picture. Among Aboriginal and Torres Strait Islander people in Australia, there is a strong age interaction, with the most marked risk being among those aged 25 to 45 years. Indigenous peoples are less likely to be treated with home dialysis, and much less likely to receive a kidney transplant. In particular, rates of living donation are very low among indigenous groups in both countries. Outcomes during dialysis treatment and during transplantation are inferior to those of nonindigenous ones, even after adjustment for the higher prevalence of comorbidities. The underlying causes for these differences are complex, but the slowing and possible stabilization of incident rate changes is heartening.
Project description:BACKGROUND:To better understand and promote public health, participatory research with Indigenous peoples represents recommended practice, worldwide. However, due to the different ways such research is referred to, described, and used, it is unclear what might (and might not) warrant the term when collaborating with Indigenous peoples. As such, this article expands conceptual understandings of participatory research with Indigenous peoples, across timelines and regions. METHOD:Following a systematic search of 29 academic databases in April 2018, a lexical analysis of the methods sections was conducted, which were sourced from 161 publications across 107 journals. RESULTS:The active involvement of Indigenous peoples in research that is expressly participatory is limited across all project phases. This might be because the ways in which Indigenous peoples were involved throughout were not reported - however, it might also be because Indigenous peoples were not involved in all project phases. Furthermore, descriptions differ by study location and publication timeframe - notably, studies in the region of the Americas chiefly refer to pandemics, surveyors, and art; and those published in the last two decades have given primacy to artifacts of interest. CONCLUSIONS:Findings from this corpus of data suggest participatory research with Indigenous peoples is not always described across different project phases; furthermore, it differs according to study location and publication timeframe. This offers considerable opportunity to further this important research area via alternative methodologies that award primacy to Indigenous expertise and agency.