RESUMEN
Human populations across a vast area in northern Eurasia, from Fennoscandia to Chukotka, share a distinct genetic component often referred to as the Siberian ancestry. Most enriched in present-day Samoyedic-speaking populations such as Nganasans, its origins and history still remain elusive despite the growing list of ancient and present-day genomes from Siberia. Here, we reanalyze published ancient and present-day Siberian genomes focusing on the Baikal and Yakutia, resolving key questions regarding their genetic history. First, we show a long-term presence of a unique genetic profile in southern Siberia, up to 6,000 yr ago, which distinctly shares a deep ancestral connection with Native Americans. Second, we provide plausible historical models tracing genetic changes in West Baikal and Yakutia in fine resolution. Third, the Middle Neolithic individual from Yakutia, belonging to the Belkachi culture, serves as the best source so far available for the spread of the Siberian ancestry into Fennoscandia and Greenland. These findings shed light on the genetic legacy of the Siberian ancestry and provide insights into the complex interplay between different populations in northern Eurasia throughout history.
Asunto(s)
Genética de Población , Genoma Humano , Pueblo del Norte de Asia , Humanos , SiberiaRESUMEN
Nonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has been reported that specific variants of patatin-like phospholipase domain-containing 3 (PNPLA3) gene, notably SNPs rs738409 and rs2294918 are associated with high risks of liver disease. PNPLA3 rs738409 polymorphism is the main determinant of fatty liver and affects development and progression of NAFLD. rs2294918 is another SNP localised in PNPLA3 gene, it is associated with reduced expression of the PNPLA3 protein, lowering the effect of the rs738409:G variant on predisposition to steatosis and liver damage. The frequencies of alleles, genotypes, haplotypes and diplotypes (combinations of genotypes at two loci) of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) were studied in the cohort of Yakuts (n = 150) living in the Republic of Sakha (Yakutia). Genotyping of PNPLA3 (rs738409 and rs2294918) was performed by PCR-PDRF method. The single nucleotide polymorphism rs738409 (I148M) of the PNPLA3 gene in the Yakut population is characterised by a high frequency of the risk allele G (72%). Analysis of the distribution frequency of the rs2294918 polymorphism genotypes showed that the allele G was predominant in 89.3% of individuals of the studied group of Yakuts. In this study, we identified two major diplotypes [GG][GG] and [CG][GG]. The high frequency of the mutant rs738409: G variant in Yakuts may be an adaptation of the organism to low temperatures. The study of the adiponutringene may be an important key to understanding the mechanisms of adaptation to low temperatures and metabolic processes in the indigenous population of the North.
Asunto(s)
Enfermedad del Hígado Graso no Alcohólico , Fosfolipasas A2 Calcio-Independiente , Humanos , Predisposición Genética a la Enfermedad , Genotipo , Enfermedad del Hígado Graso no Alcohólico/genética , Pueblo del Norte de Asia/genética , Polimorfismo de Nucleótido Simple , Fosfolipasas A2 Calcio-Independiente/genéticaRESUMEN
OBJECTIVE: To study ethnic characteristics of multipathology in elderly and senile patients with chronic cerebral ischemia living in the Republic of Sakha (Yakutia). MATERIAL AND METHODS: The study included 522 inpatients, aged 60 to 89 years, who were divided into subgroups depending on the stage of chronic cerebral ischemia, ethnicity (Evens, Yakuts and Russians) and age (elderly and senile). RESULTS: In addition to vascular cerebral pathology, comorbidities were identified in patients of older age groups. At the same time, polymorbidity was less pronounced in the Evens, the indigenous inhabitants of the northern regions of Yakutia, than in the Yakuts and representatives of the non-indigenous population - Russians. CONCLUSION: The relatively rare occurrence of comorbid pathologies in Evens is presumably associated with greater adaptation to the extreme climatic conditions of the North.
Asunto(s)
Isquemia Encefálica , Pueblos de Europa Oriental , Pueblo del Norte de Asia , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Isquemia Encefálica/epidemiología , Isquemia Encefálica/etnología , Demencia/epidemiología , Demencia/etnología , Pueblos de Europa Oriental/estadística & datos numéricos , Etnicidad , Hospitalización , Pueblos Indígenas/estadística & datos numéricos , Multimorbilidad , Pueblo del Norte de Asia/etnología , Pueblo del Norte de Asia/estadística & datos numéricos , Federación de Rusia/epidemiología , Siberia/epidemiología , Enfermedad Crónica/epidemiología , Enfermedad Crónica/etnologíaRESUMEN
Due to the geographical proximity of the northern coast of the Sea of Okhotsk and Kamchatka Peninsula to the Beringia, the indigenous populations of these territories are of great interest for elucidating the human settlement history of northern Asia and America. Meanwhile, there is a clear shortage of genetic studies of the indigenous populations of the northern coast of the Sea of Okhotsk. Here, in order to examine their fine-scale matrilineal genetic structure, ancestry and relationships with neighboring populations, we analyzed 203 complete mitogenomes (174 of which are new) from population samples of the Koryaks and Evens of the northern coast of the Sea of Okhotsk and the Chukchi of the extreme northeast Asia. The patterns observed underscore the reduced level of genetic diversity found in the Koryak, Even, and Chukchi populations, which, along with the high degree of interpopulation differentiation, may be the result of genetic drift. Our phylogeographic analysis reveals common Paleo-Asiatic ancestry for 51.1% of the Koryaks and 17.8% of the Evens. About third of the mitogenomes found in the Koryaks and Evens might be considered as ethno-specific, as these are virtually absent elsewhere in North, Central and East Asia. Coalescence ages of most of these lineages coincide well with the emergence and development of the Tokarev and Old Koryak archaeological cultures associated with the formation of the Koryaks, as well as with the period of separation and split of the North Tungusic groups migrated northwards from the Lake Baikal or the Amur River area.
Asunto(s)
ADN Mitocondrial , Genómica , Pueblo del Norte de Asia , Humanos , ADN Mitocondrial/genética , Variación Genética/genética , Pueblo del Norte de Asia/etnología , Pueblo del Norte de Asia/genética , Filogeografía , Pueblos Indígenas/genéticaRESUMEN
The study included patients with chronic kidney disease aged 60-89 years, who were divided into three groups by ethnicity (Evens, Yakuts and Russians). By age, all study participants were divided into 2 age groups: elderly (60-74 years old) and senile (75-89 years old). For the first time, ethnic features of the prevalence of risk factors and progression of chronic kidney disease in elderly and senile people of the Republic of Sakha (Yakutia) were revealed on clinical material. At the same time, risk factors are more clearly and fully represented in Russians and Yakuts. The lowest frequency of atherosclerosis and coronary heart disease is observed in Even people, despite the fact that the frequency of bad habits among them is higher. The approach used in this work to the study of risk factors and the occurrence of chronic kidney disease necessitates screening for the prevention of this pathology, depending on ethnicity and age.