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4.
Am Surg ; 85(10): 1166-1170, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31657317

RESUMO

Youth and young adult interpersonal violence (IPV) is a unique clinical challenge which merits study. This study defined the demographics and clinical outcomes of youth and young adult victims of IPV presenting to our hospital while examining violent injury recidivism. We reviewed patients aged 10 to 30 years admitted to our trauma bay as a victim of gunshot wound (GSW), stabbing wound, or blunt assault from 1998 to 2015 (n = 12,549). Logistic regression analysis was conducted to compare patient mortality across demographic characteristics, and Cox proportional hazards regression was used to determine risk factors for recidivism. Male (92%) and Hispanic patients (75%) constituted the majority of admissions. We observed differences in the mortality rate by gender (9% in males vs 5% in females, P < 0.001), race/ethnicity (5% non-Hispanic white vs 9% Hispanic, P = 0.001), insurance status (3% insured vs 10% uninsured, P < 0.001), and mechanism of injury (13% GSW, 2% stabbing wound, and 0.3% blunt assault, P < 0.001). Male gender, younger age, GSW, and amphetamine placed patients at higher risk for IPV recidivism (P < 0.05). This study demonstrates the need to better understand how demographics and economics are associated with youth and young adult IPV. In addition, future IPV prevention and intervention initiatives can be tailored to suit the unique needs of our population.


Assuntos
Vítimas de Crime/estatística & dados numéricos , Reincidência/estatística & dados numéricos , Ferimentos por Arma de Fogo/mortalidade , Ferimentos não Penetrantes/mortalidade , Ferimentos Perfurantes/mortalidade , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Criança , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Feminino , Violência com Arma de Fogo/estatística & dados numéricos , Hispano-Americanos/estatística & dados numéricos , Humanos , Seguro Saúde/estatística & dados numéricos , Masculino , Razão de Chances , Reincidência/etnologia , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Ferimentos por Arma de Fogo/epidemiologia , Ferimentos por Arma de Fogo/etnologia , Ferimentos não Penetrantes/epidemiologia , Ferimentos não Penetrantes/etnologia , Ferimentos Perfurantes/epidemiologia , Ferimentos Perfurantes/etnologia , Adulto Jovem
5.
Rev Bras Epidemiol ; 22Suppl 02(Suppl 02): e190002.supl.2, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31596373

RESUMO

INTRODUCTION: This article aims to estimate reference values for laboratory tests of cholesterol, glycosylated hemoglobin and creatinine for the Brazilian adult population. METHODS: A descriptive study carried out with laboratory data from the National Health Survey (Pesquisa Nacional de Saúde - PNS). Samples of blood and urine were collected in a PNS subsample of 8,952 individuals aged 18 years old or older. To determine the reference values, exclusion criteria were applied: presence of previous diseases and outliers, defined by values outside the range estimated by the mean ± 1.96 × standard deviation. Subsequently, reference values were calculated according to gender, age group and race/skin color. RESULTS: Differences in reference values according to gender were observed. Women had higher values of total cholesterol, LDL-c and HDL-c. Glycosylated hemoglobin showed similar values in relation to gender, and creatinine was higher among men. The mean reference values were higher in the elderly population, aged 60 years old or older. The mean, lower and upper limits of total cholesterol and fractions of non-white people were slightly lower. There was no difference according to race/skin color for glycosylated hemoglobin and creatinine. CONCLUSION: The establishment of national reference parameters for laboratory tests, adapted to the sociodemographic and geographic characteristics, provides relevant information for evaluation of diagnosis and treatment of chronic diseases in Brazil.


Assuntos
Colesterol/sangue , Técnicas de Laboratório Clínico/normas , Creatinina/análise , Hemoglobina A Glicada/análise , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Brasil , Grupo com Ancestrais do Continente Europeu , Feminino , Inquéritos Epidemiológicos/métodos , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Fatores Sexuais , Adulto Jovem
8.
Niger Postgrad Med J ; 26(4): 195-198, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31621657

RESUMO

Background: The presence of human leukocyte antigen (HLA) B*57:01 allele predicts hypersensitivity reaction (HSR) to abacavir (ABC), a nucleoside reverse-transcriptase inhibitor used for human immunodeficiency virus (HIV) treatment. However, the prevalence of this allele amongst Nigerians with HIV is yet to be established. We aimed to determine the prevalence of HLA-B*57:01 allele amongst Nigerians with HIV infection. Methods: We conducted a multicentre cross-sectional epidemiologic survey. Between April 2016 and April 2017, patients were enrolled across five HIV treatment facilities in Nigeria. Participants' demographic information and their history of ABC exposure were obtained, and venous blood was obtained for HLA typing. Results: One thousand five hundred and four (1504) adults were enrolled, with a mean age of 44.6 ± 10.7 years, 1078 (71.7%) were female. 1463 (97.3%) were on antiretroviral therapy. ABC use was reported by 12 (0.8%) participants and none reported HSR. Of 1500 blood samples that were processed, 1458 (97.2%) were successfully typed. Of these, 132 (9.1%) were HLA-B*57 positive using non-specific low-resolution HLA-B*5701 primer mix. On further analysis, none of the 132 samples (0%) had the HLA-B*5701 allele. Conclusion: HLA-B*5701allele is rare amongst Nigerians.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Didesoxinucleosídeos/uso terapêutico , Hipersensibilidade a Drogas/imunologia , Infecções por HIV/tratamento farmacológico , Infecções por HIV/imunologia , Antígenos HLA-B/genética , Inibidores da Transcriptase Reversa/uso terapêutico , Adulto , Grupo com Ancestrais do Continente Africano/genética , Idoso , Estudos Transversais , Didesoxinucleosídeos/efeitos adversos , Hipersensibilidade a Drogas/epidemiologia , Hipersensibilidade a Drogas/genética , Feminino , Infecções por HIV/epidemiologia , Infecções por HIV/genética , Antígenos HLA-B/sangue , Antígenos HLA-B/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Nigéria/epidemiologia , Prevalência , Inibidores da Transcriptase Reversa/efeitos adversos
9.
Niger Postgrad Med J ; 26(4): 239-243, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31621665

RESUMO

Background: Congenital anomalies (CAs) refer to defects that are present in a newborn but occurred during intrauterine life. They can be due to genetic, modifiable environmental or multifactorial causes. There was no prior report of their burden in our state. Aims: This study aims to describe the incidence, spectrum, predisposing factors and outcome of CAs in our setting. Methods: It was a total population study of all neonates with major birth defects admitted into the unit during the study period. Their clinical-demographic features, diagnoses and outcome were entered into an excel sheet. Clinical detection of birth defects was based on standard diagnostic criteria. The data were analysed using IBM SPSS Statistics for Windows, Version 20.0. Armonk, NY: IBM Corp. Patterns and outcome of birth defects were presented as proportions. Selected characteristics were tested for possible association with birth defect using Fisher's exact test. The level of significance was set at P < 0.05. Results: The incidence of major CAs was 4.3/1000 live births. Female neonates were more affected (59.0%). Participants' mean gestational age was 37.7 ± 3.3 weeks. Central nervous system anomalies were the most common (38.5%) birth defects. These were followed by musculoskeletal, body wall and digestive system anomalies: 28.2%, 23.1% and 10.3%, respectively. One-third (33.3%) of the infants had multiple anomalies. Nearly three quarters of them (74.0%) were referred, 18.0% died while 5.0% were discharged alive. Conclusion: A wide range of CAs occur in our setting with dire consequences. Provision of relevant specialised multidisciplinary care is desirable. Furthermore, pubic enlightenment on its modifiable possible causes can reduce the burden.


Assuntos
Sistema Nervoso Central/anormalidades , Anormalidades Congênitas/epidemiologia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Grupo com Ancestrais do Continente Africano , Criança , Anormalidades Congênitas/classificação , Estudos Transversais , Anormalidades do Sistema Digestório/epidemiologia , Feminino , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Anormalidades Musculoesqueléticas/epidemiologia , Nigéria/epidemiologia
10.
West Afr J Med ; 36(3): 246-252, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31622487

RESUMO

BACKGROUND AND OBJECTIVE: Disclosure of human immuno-deficiency virus (HIV) sero-status is a difficult process that involves communication of information about a potentially stigmatizing and transmissible illness. Despite this, it is important for preventing HIV infection and mitigating its impacts. This study aimed to assess the rate and determinants of self-disclosure of HIV sero-status among people living with HIV/AIDS (PLHIV) attending an Antiretroviral Therapy (ART) Clinic in North Central Nigeria with a view to promoting self- disclosure as an intervention for secondary prevention of HIV/AIDS. METHODS: It was a cross-sectional study involving 325 consenting adults aged 18 to 65 years PLHIV attending ART clinic who were recruited using systematic random sampling method. Data collected from the participants include socio-demographic data and medical history. The rate and factors affecting self-disclosure of HIV sero-status were obtained by using a structured interviewer-administered questionnaire. Data was analysed using Statistical Package for Social Sciences (SPSS) version 20.0 Results: Most of the participants (66.2%) were females. 96% of the participants had disclosed their HIV sero-status. Self-disclosure of HIV sero-status had statistically significant association with age (c2 = 12.614; p = 0.027) and gender (c2 = 4.638; p = 0.031). CONCLUSION: Self-disclosure of HIV sero-status was high among the participants. Being female and within 15-44 year age group were statistically significant factors associated with disclosure of HIV sero-status. Multiple counselling sessions are needed to improve disclosure particularly in males and older PLHIV as self-disclosure of HIV sero-status is a process that requires ongoing support and encouragement.


Assuntos
Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Fármacos Anti-HIV/uso terapêutico , Terapia Antirretroviral de Alta Atividade , Infecções por HIV/tratamento farmacológico , Infecções por HIV/psicologia , Soropositividade para HIV/psicologia , Revelação da Verdade , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano/psicologia , Idoso , Estudos Transversais , Feminino , Infecções por HIV/epidemiologia , Soropositividade para HIV/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Nigéria/epidemiologia , Ambulatório Hospitalar/estatística & dados numéricos , Parceiros Sexuais , Centros de Atenção Terciária , Adulto Jovem
11.
Pan Afr Med J ; 33: 114, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31489092

RESUMO

Introduction: Sudden death that occurs during sporting activity affects patients with ignored heart disease. Black athlete's ECG has been little studied and the features of this ethnic group have been discussed. This study aims to study the epidemiological profile and the peculiarities of repolarization of black athletes. Methods: We conducted a descriptive study of black athletes selected among all the athletes followed in the sectoral Center of Sports Science and Medicine in Sousse over a period of 8 months from March to October 2014. Data were collected using a medical questionnaire. Results: Data on 35 athletes were collected, with a male predominance (94,28%), with an average age of 24,34 years. Four athletes had left ventricular hypertrophy on cardiac ultrasound. There were 8 athletes with atrioventricular block degree I and 8 athletes with electrical type of left ventricular hypertrophy (LVH). ST segment changes were more marked at the level of precordial leads. Five athletes (14.2%) had inverted T waves in V2 and V3. These were the same athletes who ST-segment depression in these same leads. Early repolarization was found in 3 athletes. All these cases had notch signaling. Conclusion: Black athletes have quite specific electrical modifications which are important to know. However, our sample is not sufficiently large to certify these results. A comparative study of white athletes would be very interesting.


Assuntos
Arritmias Cardíacas/diagnóstico , Atletas , Cardiopatias/diagnóstico , Hipertrofia Ventricular Esquerda/diagnóstico , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Arritmias Cardíacas/epidemiologia , Bloqueio Atrioventricular/diagnóstico , Bloqueio Atrioventricular/epidemiologia , Morte Súbita/prevenção & controle , Ecocardiografia , Eletrocardiografia/métodos , Feminino , Cardiopatias/epidemiologia , Humanos , Hipertrofia Ventricular Esquerda/epidemiologia , Masculino , Estudos Retrospectivos , Esportes , Inquéritos e Questionários , Adulto Jovem
12.
Psychiatr Danub ; 31(Suppl 3): 249-251, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488735

RESUMO

The prevalence of personality disorders (PDs) in black people has consistently been reported as significantly lower than in their white equivalents. If this result is accurate, then it may reveal important clues as to the aetiology of personality disorders, which could provide invaluable insights as to how we should support these patients. However, if this result does not reflect the truth, then important questions must be answered as to why black people with personality disorders are under- represented. There has been limited investigations into what may cause a discrepancy in the PD prevalence between ethnicities. This review aims to determine whether the lower prevalence of PDs in black people is likely to be accurate, and if it isn't, explore some of the potential causes for the difference. This is an important issue to address as may reveal pertinent inequalities in healthcare.


Assuntos
Grupo com Ancestrais do Continente Africano/psicologia , Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Transtornos da Personalidade/epidemiologia , Grupos Étnicos/psicologia , Grupos Étnicos/estatística & dados numéricos , Humanos , Prevalência
13.
Pan Afr Med J ; 33: 90, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31489068

RESUMO

Introduction: Syphilis rapid test results may be influenced by numerous environmental and genetic factors. Methods: The proportion of false positive syphilis non-treponemal (NT) and treponemal (T) test results using immuno-chromatographic dual syphilis rapid test on serum from Cameroonian blacks (n=103) versus French blacks (n=104) or French caucasians (n=51), all HIV-negative and free of clinical syphilis, was examined. Results: Black individuals in Cameroon had a significantly higher frequency of false positive NT or T tests than black individuals in France. black individuals in France had a higher frequency of indeterminate NT tests as compared to caucasians in France. Conclusion: Both racial and environmental factors may affect immuno-chromatographic dual syphilis rapid testing.


Assuntos
Antígenos de Bactérias/imunologia , Sorodiagnóstico da Sífilis/métodos , Sífilis/diagnóstico , Treponema pallidum/imunologia , Grupo com Ancestrais do Continente Africano , Camarões , Grupo com Ancestrais do Continente Europeu , Reações Falso-Positivas , França , Humanos , Estudos Prospectivos , Sífilis/imunologia
14.
Gynecol Oncol ; 155(1): 98-104, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31378375

RESUMO

OBJECTIVE: To evaluate associations between US region of residence and urbanization and the place of death among women with gynecologic malignancies in the United States. METHODS: A retrospective cross-sectional study was performed using publicly available death certificate data from the National Center for Health Statistics. All gynecologic cancer deaths were included from 2006 to 2016. Comparisons among categories were performed with a two-tailed chi-square test, with p-values <0.05 considered significant. RESULTS: From 2006 to 2016, 328,026 women died from gynecologic malignancies in the US. Of these deaths, 40.1% (n = 134,333) occurred in the patient's home, 24.9%(n = 81,823) in the hospital, and 11.3% (37,188) in an inpatient hospice facility. Place of death varied by geographic region. The Northeast had the largest percentage of gynecologic cancer patients (31.3%) die as a hospital inpatient. The West had the highest percentage of deaths (49.3%) at home. Deaths in a hospice facility were the highest (14.1%) in the South. Place of death varied by urbanization; patients residing in large central metro or rural counties were the most likely to die during hospital admission (28.7% and 27.1%, respectively). Patients living in medium-sized metro areas were the least likely to die in hospitals (21.8%) and most likely to die in a hospice facility (14.3%). All comparisons were significant by study definition. CONCLUSION: The place of death for patients with gynecologic malignancies varies by US region and urbanization. These disparities are multifactorial in nature, likely influenced by both sociodemographic factors and regional resource availability. In this study, however, rural and central metro areas are identified as regions that may benefit from further hospice development and advocacy.


Assuntos
Neoplasias dos Genitais Femininos/mortalidade , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Feminino , Neoplasias dos Genitais Femininos/etnologia , Humanos , Lactente , Recém-Nascido , Pessoa de Meia-Idade , Estudos Retrospectivos , População Rural/estatística & dados numéricos , Estados Unidos/epidemiologia , População Urbana/estatística & dados numéricos , Adulto Jovem
15.
AIDS Behav ; 23(Suppl 3): 266-275, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31463712

RESUMO

Minority stress theory posits that homonegativity-whether experienced, anticipated, or internalized-adversely impacts health. We conducted qualitative interviews with 28 YB-GBMSM living with HIV to explore manifestations of homonegativity over the life course. Thematic analysis identified patterns in the ways that homonegativity was discussed at different points in participants' lives. Stifling, and sometimes traumatic, familial and religious environments led to experienced homonegativity early in life. These experiences led to anticipated and internalized homonegativity, which in turn shaped sexual identity formation processes in adolescence and into young adulthood. Ultimately, many participants distanced themselves from home environments, seeking and often finding extrafamilial support. Most participants eventually reached self-acceptance of both their sexuality and HIV status. In conclusion, experienced, anticipated and internalized homonegativity were pervasive as YB-GBMSM navigated family and religious environments over the life course. Future interventions should work with youth, families, and churches to prevent these harmful experiences.


Assuntos
Afro-Americanos/psicologia , Grupo com Ancestrais do Continente Africano/psicologia , Bissexualidade/etnologia , Infecções por HIV/diagnóstico , Homossexualidade Masculina/etnologia , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano/etnologia , Bissexualidade/psicologia , Georgia/epidemiologia , Infecções por HIV/etnologia , Infecções por HIV/psicologia , Homossexualidade Masculina/psicologia , Humanos , Entrevistas como Assunto , Masculino , Grupos Minoritários , Pesquisa Qualitativa , Comportamento Sexual , Minorias Sexuais e de Gênero/psicologia , Adulto Jovem
16.
Cyberpsychol Behav Soc Netw ; 22(8): 552-557, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31403853

RESUMO

Cyberbullying is a growing problem in the fast-evolving world of social media. Although this problem has been studied extensively, there is relatively little research examining it from the angle of the dark tetrad (i.e., psychopathy, Machiavellianism, sadism, and narcissism), especially across different ethnicities. In other words, this research makes original contribution by exploring the predictive ability of the dark tetrad traits in individuals of different ethnicities and their subsequent willingness to engage in cyberbullying. The study (n = 1,464) explores whether there is a positive association between the dark tetrad personality traits and cyberbullying. The results reveal that all four traits predict cyberbullying in participants from across three different ethnicities (Asian, black, and white). Furthermore, female participants score less than their male counterparts across all four traits. Researchers, academics, and legislators might potentially benefit from this research by considering focusing their interventions on helping offenders minimize the display of certain personality traits, thus taking steps toward cyberbullying reduction.


Assuntos
Transtorno da Personalidade Antissocial/psicologia , Cyberbullying/psicologia , Maquiavelismo , Narcisismo , Sadismo/psicologia , Adulto , Grupo com Ancestrais do Continente Africano/psicologia , Grupo com Ancestrais do Continente Asiático/psicologia , Grupo com Ancestrais do Continente Europeu/psicologia , Feminino , Humanos , Masculino , Mídias Sociais
17.
Genome Biol ; 20(1): 149, 2019 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-31366358

RESUMO

The human reference genome is still incomplete, especially for those population-specific or individual-specific regions, which may have important functions. Here, we developed a HUman Pan-genome ANalysis (HUPAN) system to build the human pan-genome. We applied it to 185 deep sequencing and 90 assembled Han Chinese genomes and detected 29.5 Mb novel genomic sequences and at least 188 novel protein-coding genes missing in the human reference genome (GRCh38). It can be an important resource for the human genome-related biomedical studies, such as cancer genome analysis. HUPAN is freely available at http://cgm.sjtu.edu.cn/hupan/ and https://github.com/SJTU-CGM/HUPAN .


Assuntos
Genoma Humano , Software , Grupo com Ancestrais do Continente Africano/genética , Grupo com Ancestrais do Continente Asiático/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Proteínas/genética , Análise de Sequência de DNA
19.
BMC Public Health ; 19(1): 1146, 2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31429735

RESUMO

BACKGROUND: UK African and Caribbean (AfC) communities are disproportionately burdened by type 2 diabetes (T2D). Promoting healthy eating and physical activity through structured education is the cornerstone of T2D care, however cultural barriers may limit engagement in these communities. In addition, changes in lifestyle behaviour are shaped by normative influences within social groups and contextual factors need to be understood to facilitate healthful behaviour change. The Behaviour Change Wheel (BCW) and associated COM-B framework offer intervention designers a systematic approach to developing interventions. The aim of this study was to apply the BCW in the design of a culturally sensitive self-management support programme for T2D in UK AfC communities. METHODS: An intervention development study was conducted. Focus groups were held with 41 AfC patients with T2D to understand healthful weight-management, diet and physical activity behaviours. The COM-B framework and BCW were used to evaluate the qualitative data, identify appropriate behaviour change techniques and specify the intervention components. RESULTS: Participants were motivated to avoid diabetes-related consequences although did not always understand the negative impact of their current health behaviours on long-term diabetes outcomes. Barriers to healthful behaviour included gaps in knowledge related to diet, physical activity and weight management guidance. In addition, motivation and social opportunity barriers included an acceptance of larger body sizes, rejection of body mass index for weight guidance and cultural identity being strongly linked to consumption of traditional starches. There was a lack of social opportunity to perform moderate to vigorous physical activity, although walking and dance were culturally acceptable. The resulting Healthy Eating & Active Lifestyles for Diabetes (HEAL-D) intervention uses social support, social comparison, credible sources and demonstration as key behaviour change techniques. CONCLUSION: Use of COM-B and the BCW highlighted the need for an intervention to address motivational and social opportunity barriers to engaging in healthful behaviours, as well as addressing key gaps in knowledge. This framework facilitated the linkage of theoretical behaviour constructs with evidence-based behaviour change techniques, which will enable us to evaluate operationalisation of our chosen BCTs and their impact on behaviour change in a future feasibility study.


Assuntos
Terapia Comportamental/educação , Assistência à Saúde Culturalmente Competente/métodos , Diabetes Mellitus Tipo 2/etnologia , Dieta para Diabéticos/métodos , Educação de Pacientes como Assunto/métodos , Autogestão/educação , Adulto , Grupo com Ancestrais do Continente Africano/educação , Terapia Comportamental/métodos , Região do Caribe/etnologia , Diabetes Mellitus Tipo 2/terapia , Dieta para Diabéticos/etnologia , Exercício , Feminino , Grupos Focais , Comportamentos Relacionados com a Saúde/etnologia , Dieta Saudável/etnologia , Dieta Saudável/métodos , Estilo de Vida Saudável , Humanos , Masculino , Pessoa de Meia-Idade , Motivação , Avaliação de Programas e Projetos de Saúde , Autogestão/métodos , Apoio Social , Reino Unido
20.
Hum Genet ; 138(10): 1123-1142, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31312899

RESUMO

The study of runs of homozygosity (ROH) can shed light on population demographic history and cultural practices. We present a fine-scale ROH analysis of 1679 individuals from 28 sub-Saharan African (SSA) populations along with 1384 individuals from 17 worldwide populations. Using high-density SNP coverage, we could accurately identify ROH > 300 kb using PLINK software. The genomic distribution of ROH was analysed through the identification of ROH islands and regions of heterozygosity (RHZ). The analyses showed a heterogeneous distribution of autozygosity across SSA, revealing complex demographic histories. They highlight differences between African groups and can differentiate the impact of consanguineous practices (e.g. among the Somali) from endogamy (e.g. among several Khoe and San groups). Homozygosity cold and hotspots were shown to harbour multiple protein coding genes. Studying ROH therefore not only sheds light on population history, but can also be used to study genetic variation related to adaptation and potentially to the health of extant populations.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Genética Populacional , Homozigoto , África ao Sul do Saara , Consanguinidade , Cruzamentos Genéticos , Análise de Dados , Demografia , Variação Genética , Genômica/métodos , Geografia , Humanos
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