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1.
Nat Commun ; 12(1): 3581, 2021 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-34117245

RESUMO

The rich linguistic, ethnic and cultural diversity of Ethiopia provides an unprecedented opportunity to understand the level to which cultural factors correlate with-and shape-genetic structure in human populations. Using primarily new genetic variation data covering 1,214 Ethiopians representing 68 different ethnic groups, together with information on individuals' birthplaces, linguistic/religious practices and 31 cultural practices, we disentangle the effects of geographic distance, elevation, and social factors on the genetic structure of Ethiopians today. We provide evidence of associations between social behaviours and genetic differences among present-day peoples. We show that genetic similarity is broadly associated with linguistic affiliation, but also identify pronounced genetic similarity among groups from disparate language classifications that may in part be attributable to recent intermixing. We also illustrate how groups reporting the same culture traits are more genetically similar on average and show evidence of recent intermixing, suggesting that shared cultural traits may promote admixture. In addition to providing insights into the genetic structure and history of Ethiopia, we identify the most important cultural and geographic predictors of genetic differentiation and provide a resource for designing sampling protocols for future genetic studies involving Ethiopians.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Grupos Étnicos/genética , Genética Populacional , Diversidade Cultural , Etiópia , Feminino , Variação Genética , Haplótipos , Humanos , Idioma , Linguística , Masculino , Família Multigênica , Religião , Fatores Sociais
2.
Mol Biol Rep ; 48(4): 3841-3844, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33948853

RESUMO

Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more than 50 disease-associated pathogenic sequence variants are identified in the gene. A few of the variants are population specific and are considered to have a founder effect in respective populations. The most prevalent variant, c.700+5G>T, identified frequently in Caucasian (allele frequency 0.63) and European (0.35) populations. Two variants, c.860G>T (p.Gly287Val) and c.944_946delAGG (p.Glu315del), account for 95% of the allele count in patients of Ashkenazi Jews ancestry. A possible mutational hot-spot at c.834 position is frequently found mutated in Chinese patients. This observed ethnic associations of HOGA1 alleles span a spectrum ranging from recurrence limited to an ethnic group to a possible founder-effect.


Assuntos
Hiperoxalúria Primária/genética , Oxo-Ácido-Liases/genética , Polimorfismo Genético , Grupos Étnicos/genética , Efeito Fundador , Frequência do Gene , Humanos , Hiperoxalúria Primária/etnologia
4.
Mol Genet Genomics ; 296(4): 783-797, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34037863

RESUMO

East Asia, geographically extending to the Pamir Plateau in the west, to the Himalayan Mountains in the southwest, to Lake Baikal in the north and to the South China Sea in the south, harbors a variety of people, cultures, and languages. To reconstruct the natural history of East Asians is a mission of multiple disciplines, including genetics, archaeology, linguistics, and ethnology. Geneticists confirm the recent African origin of modern East Asians. Anatomically modern humans arose in Africa and immigrated into East Asia via a southern route approximately 50,000 years ago. Following the end of the Last Glacial Maximum approximately 12,000 years ago, rice and millet were domesticated in the south and north of East Asia, respectively, which allowed human populations to expand and linguistic families and ethnic groups to develop. These Neolithic populations produced a strong relation between the present genetic structures and linguistic families. The expansion of the Hongshan people from northeastern China relocated most of the ethnic populations on a large scale approximately 5300 years ago. Most of the ethnic groups migrated to remote regions, producing genetic structure differences between the edge and center of East Asia. In central China, pronounced population admixture occurred and accelerated over time, which subsequently formed the Han Chinese population and eventually the Chinese civilization. Population migration between the north and the south throughout history has left a smooth gradient in north-south changes in genetic structure. Observation of the process of shaping the genetic structure of East Asians may help in understanding the global natural history of modern humans.


Assuntos
Cromossomos Humanos Y/genética , Civilização/história , Grupos Étnicos/história , Antropologia Cultural , Grupo com Ancestrais do Continente Asiático/classificação , Grupo com Ancestrais do Continente Asiático/etnologia , Grupo com Ancestrais do Continente Asiático/genética , China/etnologia , Grupos Étnicos/classificação , Grupos Étnicos/genética , Extremo Oriente/etnologia , Fluxo Gênico , Genética Populacional/história , História Antiga , Humanos , Linguística/classificação , Linguística/história , Filogenia
5.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 46(4): 351-360, 2021 Apr 28.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-33967080

RESUMO

OBJECTIVES: Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations. METHODS: A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population. RESULTS: The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (P>0.05) and linkage disequilibrium was observed. The cumulative discriminatory power (CPD), cumulative power of exclusion for trios (CPEtrio)and cumulative Power of exclusion for duos (CPEduo) with total 23 STRs were 1-1.305 263 374 8×10-27, 1-2.583 152 052 2×10-10 and 1-1.193 637 500 4×10-6, respectively. Comprehensive population comparison showed that Shanxi Yuncheng Han nationality was genetically closer to populations of the same linguistic family or geographically close proximity, such as Shaanxi Weinan Han, Liaoning Han, and Ningbo Han nationality while relatively far away from different linguistic ethnic groups and geographically distant populations like Xinjiang Uygur and Guangdong Han nationality. CONCLUSIONS: These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.


Assuntos
Grupo com Ancestrais do Continente Asiático , Repetições de Microssatélites , Grupo com Ancestrais do Continente Asiático/genética , China , Grupos Étnicos/genética , Frequência do Gene , Loci Gênicos , Genética Populacional , Humanos , Repetições de Microssatélites/genética , Polimorfismo Genético
6.
J Int Med Res ; 49(4): 3000605211000892, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33827324

RESUMO

OBJECTIVE: Mutations in GJB2, SLC26A4, and mitochondrial (mt)DNA 12S rRNA genes are the main cause of nonsyndromic hearing impairment. The present study analyzed these mutations in ethnic minority and Han Chinese patients with nonsyndromic hearing impairment from Qinghai, China. METHODS: The SNPscan assay was used to analyze mutation spectra and frequencies in the two patient groups. RESULTS: GJB2 mutations were detected in 9.5% (20/210) of minority patients and 20.88% (48/230) of Han Chinese patients. The most common Han Chinese GJB2 variants were c.235delC and c.299_300delAT, whereas c.235delC and c.109G > A were the most prevalent in minority patients. SLC26A4 mutations were detected in 5.71% (12/210) of minority patients and 14.35% (33/230) of Han Chinese patients, and mtDNA 12S rRNA mutations were detected in 4.28% (9/210) of minority patients and 9.13% (21/230) of Han Chinese patients. CONCLUSIONS: These data indicate that the mutation frequencies of three deafness-associated genes were significantly higher in Han Chinese patients than in minority patients. Moreover, the GJB2 mutation spectrum was shown to differ between these two patient groups.


Assuntos
Surdez , Grupos Étnicos , Grupo com Ancestrais do Continente Asiático/genética , China , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Grupos Étnicos/genética , Humanos , Grupos Minoritários , Mutação
7.
Med Sci Monit ; 27: e928503, 2021 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-33677465

RESUMO

BACKGROUND The association between leptin receptor (LEPR) polymorphisms and keloids is still unclear. Our study aimed to explore the association between LEPR gene polymorphisms and keloids in the Chinese Han population. MATERIAL AND METHODS We implemented a case-control study in a cohort of 352 keloid patients and 299 healthy controls to analyze the correlation between 4 SNPs (rs1137101, rs1938496, rs6588147, and rs7555955) and keloids. Genomic DNA was extracted from peripheral blood by using TGuide M16 (Tiangen). Genotyping of LEPR SNPs was performed using an improved multiple ligase detection reaction (iMLDR) by Shanghai Genesky Bio-Tech Co., Ltd. RESULTS We found that patients caring the AA genotype of rs1137101 and the CC genotype rs1938496 tend to have the increased risk of keloids (P=0.026, P=0.047). Carrying the GA, AA gene type, and G allele frequencies of rs7555955, patients were more likely to have to keloids (P=0.030, P=0.016, P=0.018, respectively). There were no significant differences in genotype distribution and allele frequencies of rs6588147 between cases and controls. The association of rs1137101 and rs7555955 under dominant, recessive, and allele models exhibited significant differences among family-history keloid patients, no-family-history keloid groups, and normal controls (χ²=6.471, P=0.039; χ²=6.477, P=0.039; χ²=6.197, P=0.045, respectively). Similarly, the OR of rs1137101 in the recessive model was significantly higher in patients with a family history of keloids than those in controls. Nonetheless, there are significant ORs of rs1938496 and rs6588147 among the mild-moderate keloid, severe keloid, and control groups. CONCLUSIONS The LEPR gene polymorphisms are associated with keloid formation and severity, especially in patients with a positive family history.


Assuntos
Queloide/genética , Receptores para Leptina/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Estudos de Coortes , Grupos Étnicos/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Queloide/metabolismo , Masculino , Polimorfismo de Nucleotídeo Único/genética , Receptores para Leptina/metabolismo
8.
Mol Genet Genomics ; 296(3): 631-651, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33650010

RESUMO

Trans-Eurasian cultural and genetic exchanges have significantly influenced the demographic dynamics of Eurasian populations. The Hexi Corridor, located along the southeastern edge of the Eurasian steppe, served as an important passage of the ancient Silk Road in Northwest China and intensified the transcontinental exchange and interaction between populations on the Central Plain and in Western Eurasia. Historical and archeological records indicate that the Western Eurasian cultural elements were largely brought into North China via this geographical corridor, but there is debate on the extent to which the spread of barley/wheat agriculture into North China and subsequent Bronze Age cultural and technological mixture/shifts were achieved by the movement of people or dissemination of ideas. Here, we presented higher-resolution genome-wide autosomal and uniparental Y/mtDNA SNP or STR data for 599 northwestern Han Chinese individuals and conducted 2 different comprehensive genetic studies among Neolithic-to-present-day Eurasians. Genetic studies based on lower-resolution STR markers via PCA, STRUCTURE, and phylogenetic trees showed that northwestern Han Chinese individuals had increased genetic homogeneity relative to northern Mongolic/Turkic/Tungusic speakers and Tibeto-Burman groups. The genomic signature constructed based on modern/ancient DNA further illustrated that the primary ancestry of the northwestern Han was derived from northern millet farmer ancestors, which was consistent with the hypothesis of Han origin in North China and more recent northwestward population expansion. This was subsequently confirmed via excess shared derived alleles in f3/f4 statistical analyses and by more northern East Asian-related ancestry in the qpAdm/qpGraph models. Interestingly, we identified one western Eurasian admixture signature that was present in northwestern Han but absent from southern Han, with an admixture time dated to approximately 1000 CE (Tang and Song dynasties). Generally, we provided supporting evidence that historic Trans-Eurasian communication was primarily maintained through population movement, not simply cultural diffusion. The observed population dynamics in northwestern Han Chinese not only support the North China origin hypothesis but also reflect the multiple sources of the genetic diversity observed in this population.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Genoma/genética , China , Cromossomos Humanos Y/genética , DNA Antigo , DNA Mitocondrial/genética , Grupos Étnicos/genética , Genética Populacional/métodos , Estudo de Associação Genômica Ampla/métodos , Migração Humana , Humanos , Filogenia , Polimorfismo de Nucleotídeo Único/genética
9.
Nat Commun ; 12(1): 1639, 2021 03 12.
Artigo em Inglês | MEDLINE | ID: mdl-33712626

RESUMO

Conventional human leukocyte antigen (HLA) imputation methods drop their performance for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic major histocompatibility complex (MHC) fine-mapping due to inter-ethnic heterogeneity in allele frequency spectra. We develop DEEP*HLA, a deep learning method for imputing HLA genotypes. Through validation using the Japanese and European HLA reference panels (n = 1,118 and 5,122), DEEP*HLA achieves the highest accuracies with significant superiority for low-frequency and rare alleles. DEEP*HLA is less dependent on distance-dependent linkage disequilibrium decay of the target alleles and might capture the complicated region-wide information. We apply DEEP*HLA to type 1 diabetes GWAS data from BioBank Japan (n = 62,387) and UK Biobank (n = 354,459), and successfully disentangle independently associated class I and II HLA variants with shared risk among diverse populations (the top signal at amino acid position 71 of HLA-DRß1; P = 7.5 × 10-120). Our study illustrates the value of deep learning in genotype imputation and trans-ethnic MHC fine-mapping.


Assuntos
Aprendizado Profundo , Diabetes Mellitus Tipo 1/genética , Predisposição Genética para Doença/genética , Antígenos HLA/genética , Complexo Principal de Histocompatibilidade/genética , Alelos , Grupos de Populações Continentais , Grupos Étnicos/genética , Estudo de Associação Genômica Ampla , Genótipo , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe II/genética , Humanos , Desequilíbrio de Ligação
10.
Transl Psychiatry ; 11(1): 120, 2021 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-33633108

RESUMO

Cigarette smoking contributes to numerous diseases and is one of the leading causes of death in the United States. Smoking behaviors vary widely across race/ethnicity, but it is not clear why. Here, we examine the contribution of genetic ancestry to variation in two smoking-related traits in 43,485 individuals from four race/ethnicity groups (non-Hispanic white, Hispanic/Latino, East Asian, and African American) from a single U.S. healthcare plan. Smoking prevalence was the lowest among East Asians (22.7%) and the highest among non-Hispanic whites (38.5%). We observed significant associations between genetic ancestry and smoking-related traits. Within East Asians, we observed higher smoking prevalence with greater European (versus Asian) ancestry (P = 9.95 × 10-12). Within Hispanic/Latinos, higher cigarettes per day (CPD) was associated with greater European ancestry (P = 3.34 × 10-25). Within non-Hispanic whites, the lowest number of CPD was observed for individuals of southeastern European ancestry (P = 9.06 × 10-5). These associations remained after considering known smoking-associated loci, education, socioeconomic factors, and marital status. Our findings support the role of genetic ancestry and socioeconomic factors in cigarette smoking behaviors in non-Hispanic whites, Hispanic/Latinos, and East Asians.


Assuntos
Fumar Cigarros , Grupos Étnicos , Afro-Americanos/genética , Grupos Étnicos/genética , Grupo com Ancestrais do Continente Europeu/genética , Hispano-Americanos/genética , Humanos , Prevalência , Estados Unidos/epidemiologia
11.
Forensic Sci Int ; 320: 110681, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33549990

RESUMO

Microhaplotype as an emerging genetic marker has attracted more attention in forensic field. The purpose of this study was to evaluate the potential of microhaplotypes in individual identification and ancestry inference in Chinese Hainan Li and 26 1000 G populations. Three microhaplotypes were genotyped from 100 Li individuals using Agena MassARRAY. Moreover, 2504 individuals from 26 populations (1000 Genomes Project database) were enrolled. The genotypes frequencies of microhaplotypes in each population were calculated by the Plink software. We used Structure, Arlequin, and MEGA6 software to analyze the genetic structure, differentiation and genetic background difference, respectively. The forensic parameters of these microhaplotypes were calculated using Modified Powerstats software. The distribution of genotypes frequencies of three microhaplotypes elaborated the high diversities among the Li and 26 1000 G populations. Li population had a close genetic relationship with EAS populations using structure analysis. No differentiation was observed between Li and CHS population by Fst analysis. The NJ tree showed that the genetic background of Li and CHS is most similar. The average heterozygosity (HE), probability of match (PM), power of discrimination (PD), probability of exclusion (PE) and polymorphism information content (PIC) values for the three microhaplotypes in 27 populations were 0.535, 0.497, 0.465, 0.325, and 0.481, respectively. In conclusion, our results revealed three microhaplotypes as individual identification and ancestry inference genetic markers among Li population and 26 1000 G populations. Future studies are needed to confirm our results with larger samples and select much higher forensic efficacy microhaplotypes.


Assuntos
Grupos Étnicos/genética , Genética Populacional , Haplótipos , China , Frequência do Gene , Marcadores Genéticos , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único
12.
Mol Genet Genomics ; 296(3): 581-590, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33580820

RESUMO

Aiming to determine their ancestry diagnostic potential, we selected two sets of nuclear deletion/insertion polymorphisms (DIPs), including 30 located on autosomal chromosomes and 33 on the X chromosome. We analysed over 200 unrelated Argentinean individuals living in urban areas of Argentina. As in most American countries, the extant Argentinean population is the result of tricontinental genetic admixture. The peopling process within the continent was characterised by mating bias involving Native American and enslaved African females and European males. Differential results were detected between autosomal DIPs and X-DIPs. The former showed that the European component was the largest (77.8%), followed by the Native American (17.9%) and African (4.2%) components, in good agreement with the previously published results. In contrast, X-DIPs showed that the European genetic contribution was also predominant but much smaller (52.9%) and considerably larger Native American and African contributions (39.6% and 7.5%, respectively). Genetic analysis revealed continental genetic contributions whose associated phenotypic traits have been mostly lost. The observed differences between the estimated continental genetic contribution proportions based on autosomal DIPs and X-DIPs reflect the effects of autosome and X-chromosome transmission behaviour and their different recombination patterns. This work shows the ability of the tested DIP panels to infer ancestry and confirm mating bias. To the best of our knowledge, this is the first study focusing on ancestry-informative autosomal DIP and X-DIP comparisons performed in a sample representing the entire Argentinean population.


Assuntos
Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Polimorfismo Genético/genética , Grupo com Ancestrais do Continente Africano/genética , Argentina , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Genética Populacional/métodos , Humanos , Masculino
13.
BMC Res Notes ; 14(1): 45, 2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33541395

RESUMO

OBJECTIVES: Kazakhstan is a Central Asian crossroad of European and Asian populations situated along the way of the Great Silk Way. The territory of Kazakhstan has historically been inhabited by nomadic tribes and today is the multi-ethnic country with the dominant Kazakh ethnic group. We sequenced and analyzed the whole-genomes of five ethnic healthy Kazakh individuals with high coverage using next-generation sequencing platform. This whole-genome sequence data of healthy Kazakh individuals can be a valuable reference for biomedical studies investigating disease associations and population-wide genomic studies of ethnically diverse Central Asian region. DATA DESCRIPTION: Blood samples have been collected from five ethnic healthy Kazakh individuals living in Kazakhstan. The genomic DNA was extracted from blood and sequenced. Sequencing was performed on Illumina HiSeq2000 next-generation sequencing platform. We sequenced and analyzed the whole-genomes of ethnic Kazakh individuals with the coverage ranging from 26 to 32X. Ranging from 98.85 to 99.58% base pairs were totally mapped and aligned on the human reference genome GRCh37 hg19. Het/Hom and Ts/Tv ratios for each whole genome ranged from 1.35 to 1.49 and from 2.07 to 2.08, respectively. Sequencing data are available in the National Center for Biotechnology Information SRA database under the accession number PRJNA374772.


Assuntos
Grupo com Ancestrais do Continente Asiático , Genoma Humano , Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Humanos , Cazaquistão , Sequenciamento Completo do Genoma
14.
Med Sci Monit ; 27: e928455, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33583939

RESUMO

BACKGROUND The IRF5 and TYK2 gene polymorphisms are associated with autoimmune diseases. However, the relationship between the IRF5 and TYK2 gene polymorphisms and RA risk in the Chinese Han population was inconsistent. MATERIAL AND METHODS A total of 578 RA patients (case group) and 578 healthy controls (control group) were assessed in a case-control study. Genotyping of IRF5 (Exon 6 insertion/deletion (in/de), rs2004640, rs2070197, rs10954213) and TYK2 (rs280500, rs280519, rs280521, rs8108236, rs12720253) was performed by direct sequencing method. Data analysis was performed by SHEsis. RESULTS The rs2004640T allele (P=0.0003) and the dominant (P=0.001) and recessive (P=0.01) models of rs2004640 were associated with RA risk after stringent Bonferroni correction (0.05/4). The IRF5 exon 6 (in), rs2070197 and rs10954213 were not associated with RA (P>0.05). Two haplotypes of IRF5 (DTAT and DTGG) were associated with RA susceptibility (P<0.05). In addition, the frequencies of TYK2 rs280500A, rs280521A, and rs8108236A were significantly higher in the RA group compared with the control group (P<0.05). TYK2 rs280500, rs280521, and rs8108236 were associated with RA susceptibility in the dominant model, but the same was not observed for rs280519 and rs12720253 (P<0.05). Furthermore, 3 risk haplotypes (AAAGT, AGGAT, and GAAAT) and a protective haplotype (GAGGT) of TYK2 gene were associated with RA susceptibility (P<0.05). CONCLUSIONS Our results suggest that IRF5 rs2004640, TYK2 rs280500, rs280521, rs8108236, and haplotypes IRF5 (DTAT and DTGG) and TYK2 (AAAGT, AGGAT, GAAAT, and GAGGT) are susceptible factors for RA in a Chinese Han population.


Assuntos
Artrite Reumatoide/genética , Fatores Reguladores de Interferon/genética , TYK2 Quinase/genética , Adulto , Alelos , Artrite Reumatoide/metabolismo , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Grupos Étnicos/genética , Feminino , Predisposição Genética para Doença/genética , Genótipo , Haplótipos/genética , Humanos , Fatores Reguladores de Interferon/metabolismo , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , TYK2 Quinase/metabolismo
15.
Hum Biol ; 92(2): 81-92, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33639639

RESUMO

Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.


Assuntos
Antígenos de Grupos Sanguíneos , Protestantismo , Bósnia e Herzegóvina , Grupos Étnicos/genética , Frequência do Gene , Genótipo , Humanos
16.
Hum Biol ; 92(2): 115-127, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33639641

RESUMO

Manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between Southeast Asia and South Asia. The origin and migration histories of Naga and Kuki tribal populations are not clearly understood. Moreover, Kukis have been traced to two different ancestries, which has created confusion among the people. The present study examined genomic affinities and differentiation of the Naga and Kuki tribal populations of Manipur, Northeast India. Twenty autosomal markers (8 Alu insertion-deletions, 12 restriction-fragment-length polymorphisms) were analyzed. Findings show genetic differences between Naga and Kuki tribal populations with respect to the allele distribution pattern, which was substantiated by genetic differentiation (GST = 5.2%) and molecular variance (AMOVA), where the highest percentage of among-group variances was observed between Naga and Kuki tribal groups (7.09%). However, genetic similarities with respect to allele distribution patterns in most of the loci were seen among their respective groups (Rongmei and Inpui, Thadou and Vaiphei). Rongmei and Inpui tribal populations (Naga group) belong to the Naga-Bodo linguistic group, and Thadou and Vaiphei (Kuki group) belong to the Northern Kuki-Chin linguistic group, suggesting that genetic similarities may not be independent of linguistic affinities. Despite differential genetic affinities, both Naga and Kuki tribal populations in Manipur show more proximity with Southeast Asian populations and Northeast Indian populations than with other Indian populations and global populations taken for comparison.


Assuntos
Grupo com Ancestrais do Continente Asiático , Genômica , Ásia , Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Frequência do Gene , Variação Genética/genética , Genética Populacional , Humanos , Índia
17.
Nat Commun ; 12(1): 1236, 2021 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-33623038

RESUMO

Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS1) is associated with age at prostate cancer diagnosis and improves screening accuracy in Europeans. Here, we evaluate performance of PHS2 (PHS1, adapted for OncoArray) in a multi-ethnic dataset of 80,491 men (49,916 cases, 30,575 controls). PHS2 is associated with age at diagnosis of any and aggressive (Gleason score ≥ 7, stage T3-T4, PSA ≥ 10 ng/mL, or nodal/distant metastasis) cancer and prostate-cancer-specific death. Associations with cancer are significant within European (n = 71,856), Asian (n = 2,382), and African (n = 6,253) genetic ancestries (p < 10-180). Comparing the 80th/20th PHS2 percentiles, hazard ratios for prostate cancer, aggressive cancer, and prostate-cancer-specific death are 5.32, 5.88, and 5.68, respectively. Within European, Asian, and African ancestries, hazard ratios for prostate cancer are: 5.54, 4.49, and 2.54, respectively. PHS2 risk-stratifies men for any, aggressive, and fatal prostate cancer in a multi-ethnic dataset.


Assuntos
Grupos Étnicos/genética , Herança Multifatorial/genética , Neoplasias da Próstata/genética , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Invasividade Neoplásica , Autorrelato
18.
Am J Phys Anthropol ; 174(4): 701-713, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33539553

RESUMO

Previous studies show that the indigenous people of the southern Cape of South Africa were dramatically impacted by the arrival of European colonists starting ~400 years ago and their descendants are today mixed with Europeans and Asians. To gain insight on the occupants of the Vaalkrans Shelter located at the southernmost tip of Africa, we investigated the genetic make-up of an individual who lived there about 200 years ago. We further contextualize the genetic ancestry of this individual among prehistoric and current groups. From a hair sample excavated at the shelter, which was indirectly dated to about 200 years old, we sequenced the genome (1.01 times coverage) of a Later Stone Age individual. We analyzed the Vaalkrans genome together with genetic data from 10 ancient (pre-colonial) individuals from southern Africa spanning the last 2000 years. We show that the individual from Vaalkrans was a man who traced ~80% of his ancestry to local southern San hunter-gatherers and ~20% to a mixed East African-Eurasian source. This genetic make-up is similar to modern-day Khoekhoe individuals from the Northern Cape Province (South Africa) and Namibia, but in the southern Cape, the Vaalkrans man's descendants have likely been assimilated into mixed-ancestry "Coloured" groups. The Vaalkrans man's genome reveals that Khoekhoe pastoralist groups/individuals lived in the southern Cape as late as 200 years ago, without mixing with non-African colonists or Bantu-speaking farmers. Our findings are also consistent with the model of a Holocene pastoralist migration, originating in Eastern Africa, shaping the genomic landscape of historic and current southern African populations.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Grupos Étnicos/genética , Genética Populacional/métodos , Cabelo/química , Grupo com Ancestrais do Continente Africano/história , Antropologia Física , Grupos Étnicos/história , Genoma Humano/genética , História do Século XIX , História Antiga , Migração Humana/história , Humanos , Polimorfismo de Nucleotídeo Único/genética , África do Sul
19.
Am J Phys Anthropol ; 174(4): 686-700, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33555039

RESUMO

OBJECTIVES: The aim of this research was to explore the origin, diversification, and demographic history of O1a-M119 over the past 10,000 years, as well as its role during the formation of East Asian and Southeast Asian populations, particularly the Han, Tai-Kadai-speaking, and Austronesian-speaking populations. MATERIALS AND METHODS: Y-chromosome sequences (n = 141) of the O1a-M119 lineage, including 17 newly generated in this study, were used to reconstruct a revised phylogenetic tree with age estimates, and identify sub-lineages. The geographic distribution of 12 O1a-M119 sub-lineages was summarized, based on 7325 O1a-M119 individuals identified among 60,009 Chinese males. RESULTS: A revised phylogenetic tree, age estimation, and distribution maps indicated continuous expansion of haplogroup O1a-M119 over the past 10,000 years, and differences in demographic history across geographic regions. We propose several sub-lineages of O1a-M119 as founding paternal lineages of Han, Tai-Kadai-speaking, and Austronesian-speaking populations. The sharing of several young O1a-M119 sub-lineages with expansion times less than 6000 years between these three population groups supports a partial common ancestry for them in the Neolithic Age; however, the paternal genetic divergence pattern is much more complex than previous hypotheses based on ethnology, archeology, and linguistics. DISCUSSION: Our analyses contribute to a better understanding of the demographic history of O1a-M119 sub-lineages over the past 10,000 years during the emergence of Han, Austronesians, Tai-Kadai-speaking populations. The data described in this study will assist in understanding of the history of Han, Tai-Kadai-speaking, and Austronesian-speaking populations from ethnology, archeology, and linguistic perspectives in the future.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Genética Populacional/métodos , Haplótipos/genética , Antropologia Física , Grupo com Ancestrais do Continente Asiático/classificação , China , Grupos Étnicos/classificação , Humanos , Masculino
20.
Gene ; 777: 145466, 2021 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-33524518

RESUMO

The dopamine - related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used to study genetic diversity and the evolution of human populations. The present investigation aims to assess the genetic diversity in seven North African populations in order to explore their genetic structure and to compare them to others worldwide populations studied for the same locus. Nine single nucleotide polymorphisms (SNPs) from the DRD2/ANKK1 locus (rs1800497 TaqIA, rs2242592, rs1124492, rs6277, rs6275, rs1079727, rs2002453, rs2234690 and rs1079597 TaqIB) were typed in 366 individuals from seven North African populations: six from Tunisia (Sousse, Smar, Kesra, Kairouan, Mehdia and Kerkennah) and one from Libya. The allelic frequencies of rs2002453 and rs2234690 were higher in the Smar population than in the other North African populations. More, the Smar population showed the lowest average heterozygosity (0.313). The principal component analysis (PCA) showed that the Smar population was clearly separated from others. Furthermore, linkage disequilibrium analysis shown a high linkage disequilibrium in the North African population and essentially in Smar population. Comparison with other world populations has shown that the heterozygosity of North African population was very close to that of the African and European populations. The PCA and the haplotypic analysis suggested the presence of an important Eurasian genetic component for the North African population. These results suggested that the Smar population was isolated from the others North Africans ones by its peculiar genetic structure because of isolation, endogamy and genetic drift. On the other hand, the North African population is characterized by a multi ancestral gene pool from Eurasia and sub-Saharan Africa due to human migration since prehistoric times.


Assuntos
Proteínas Serina-Treonina Quinases/genética , Receptores de Dopamina D2/genética , Adulto , África do Norte/etnologia , Grupo com Ancestrais do Continente Africano , Alelos , Grupos Étnicos/genética , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Genômica , Genótipo , Técnicas de Genotipagem , Haplótipos/genética , Heterozigoto , Migração Humana , Humanos , Desequilíbrio de Ligação/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética
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