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2.
Cult Med Psychiatry ; 48(1): 66-90, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38393649

RESUMO

In this article, we examine the Covid-19 experiences of a group of Chinese university students studying in the city of Guangzhou. We draw on journal entries that Chinese students submitted to the Pandemic Journaling Project between March and May 2022, along with follow-up responses in July and December 2022, to argue that these students spent most of their undergraduate years living in a state of "seesaw precarity." We define seesaw precarity as a protracted period during which many Chinese were unable to predict from one day to the next whether they would be free to engage in the quotidian activities of everyday life. We trace student reactions and adaptations as they struggled to attend class, buy food, and see friends and family in the midst of unpredictable swings between openness and closedness. The seesaw nature of restrictions spurred considerable anxiety among the students we followed, but also produced an optimistic mindset we refer to as "anxious hope." Participants accepted the necessity of Covid controls and felt it was incumbent upon them as individuals to adjust to this reality. They saw themselves as responsible for actively cultivating a positive mindset. Our findings suggest that the promotion of emotional self-care and anxious hope during the pandemic may have supported the viability of long-term controls as well as the acceptability of their sudden abandonment, while muting the possibility of resistance.


Assuntos
Ansiedade , COVID-19 , Esperança , Estudantes , Humanos , COVID-19/psicologia , Universidades , Estudantes/psicologia , China/etnologia , Ansiedade/psicologia , Masculino , Feminino , Adulto Jovem , Adulto , SARS-CoV-2
4.
Nature ; 626(7999): 565-573, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38297123

RESUMO

Genomic research that targets large-scale, prospective birth cohorts constitutes an essential strategy for understanding the influence of genetics and environment on human health1. Nonetheless, such studies remain scarce, particularly in Asia. Here we present the phase I genome study of the Born in Guangzhou Cohort Study2 (BIGCS), which encompasses the sequencing and analysis of 4,053 Chinese individuals, primarily composed of trios or mother-infant duos residing in South China. Our analysis reveals novel genetic variants, a high-quality reference panel, and fine-scale local genetic structure within BIGCS. Notably, we identify previously unreported East Asian-specific genetic associations with maternal total bile acid, gestational weight gain and infant cord blood traits. Additionally, we observe prevalent age-specific genetic effects on lipid levels in mothers and infants. In an exploratory intergenerational Mendelian randomization analysis, we estimate the maternal putatively causal and fetal genetic effects of seven adult phenotypes on seven fetal growth-related measurements. These findings illuminate the genetic links between maternal and early-life traits in an East Asian population and lay the groundwork for future research into the intricate interplay of genetics, intrauterine exposures and early-life experiences in shaping long-term health.


Assuntos
Estudos de Coortes , Interação Gene-Ambiente , Variação Genética , Genoma Humano , Fenótipo , Efeitos Tardios da Exposição Pré-Natal , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Ácidos e Sais Biliares/metabolismo , China/etnologia , Cordocentese , Feto/embriologia , Ganho de Peso na Gestação , Lipídeos/sangue , Exposição Materna , Parto , Estudos Prospectivos , Genoma Humano/genética , Variação Genética/genética
5.
J Adv Nurs ; 80(3): 1018-1029, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37828729

RESUMO

AIM: To explain the process taken by Chinese family care partners of older adults in the Greater Toronto Area, Canada, to access health and social services in their communities. The research question was: What mechanisms and structures impact the agency of Chinese family care partners of older adults, in the process of assisting them to access health and social services? DESIGN: This qualitative study was informed by critical realism. METHODS: Chinese family care partners of older adults in the Greater Toronto Area, Canada, were interviewed from August 2020 to June 2021. Transcripts underwent thematic analysis. FINDINGS: Twenty-eight Chinese family care partners expressed a firm commitment to maintain caregiving conditions and to judiciously access health and social services. Their commitment was made up of three parts: (a) legislative and cultural norms of family, work, and society; (b) their perseverance to fill gaps with limited social and financial resources; (c) the quality of their relationship to, and illness trajectory of the older adults. The social structures created tension in how Chinese family care partners made decisions, negotiated resources, and ultimately monitored and coordinated timely access with older adults. CONCLUSION: Participants' commitment and perseverance were conceptualized as "grit," central to their agency to conform to legislative and cultural norms. Moreover, findings support grit's power to motivate and sustain family caregiving, in order for older adults to age in place as long as possible with finite resources. IMPLICATIONS FOR THE PROFESSION: This study highlights the importance of cultural awareness education for nurses, enabling continuity of care at a systems level and for a more resilient healthcare system. IMPACT: Family care partners' grit may be crucial for nurses to harness when together, they face limited access to culturally appropriate health and social services in a system grounded in values of equity and inclusion, as in Canada. REPORTING METHOD: When writing this manuscript, we adhered to relevant EQUATOR guidelines of the Consolidated Criteria for Reporting Qualitative Research (COREQ). PATIENT OR PUBLIC INVOLVEMENT AND ENGAGEMENT: No patient or public involvement.


Assuntos
Povo Asiático , Cuidadores , Acesso aos Serviços de Saúde , Aceitação pelo Paciente de Cuidados de Saúde , Idoso , Humanos , Povo Asiático/psicologia , Canadá/epidemiologia , Cuidadores/psicologia , China/etnologia , Pesquisa Qualitativa , Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Intenção , Ontário/epidemiologia , Acesso aos Serviços de Saúde/estatística & dados numéricos
7.
J Frailty Aging ; 12(3): 221-230, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37493383

RESUMO

BACKGROUND: Global migration has increased in the past century, and aging in a foreign country is relevant to the Chinese diaspora. OBJECTIVE: With regard to migration, this study focuses on the places of aging as the context of older Chinese adults. This study aimed to describe the general health and wellbeing of this population with respect to their location. DESIGN: This study has a cross sectional design. SETTING AND PARTICIPANTS: Participants were recruited who were "aging in place" from Tianjin, China (199 participants), and "aging out of place" from the Netherlands (134 participants). Data from April to May 2019 in China and November 2018 to March 2019 in the Netherlands were aggregated. MEASUREMENTS: frailty, QoL and loneliness were used in both samples. RESULTS: T-tests and regression analyses demonstrated that social domains of frailty and QoL, as well as loneliness and frailty prevalence characterized the major differences between both places of aging. A correlation analysis and visual correlation network revealed that frailty, quality of life (QoL), and loneliness were more closely related in the aging out of place sample. Social domains of frailty and QoL, as well as the prevalence of loneliness and frailty, characterized the major differences between both places of aging. CONCLUSIONS: The findings indicate that frailty, QoL, and loneliness have a complex relationship, confirming that loneliness is a major detriment to the general wellbeing of older Chinese adults aging out of place. This study examined the places of aging of the larger Chinese population and allows a comprehensive understanding of health and wellbeing. The social components, especially loneliness, among the aging out of place Chinese community should receive more attention practice and clinical wise. On the other hand, frailty as well as its prevention is of more importance for the Chinese community aging in place.


Assuntos
Envelhecimento , População do Leste Asiático , Fragilidade , Solidão , Qualidade de Vida , Idoso , Humanos , Pessoa de Meia-Idade , Estudos Transversais , População do Leste Asiático/psicologia , Fragilidade/epidemiologia , China/epidemiologia , China/etnologia , Países Baixos/epidemiologia , Migrantes/psicologia , Migrantes/estatística & dados numéricos
8.
N Z Med J ; 136(1579): 96-103, 2023 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-37501248

RESUMO

Many ethnic groups traditionally value familism, which emphasises interdependence and the extended family unit. However, Aotearoa New Zealand's health system remains largely individual-oriented, with the implementation of family-centred care remaining inconsistent. This is known to have negative effects on Maori healthcare experiences and outcomes. Our research, exploring the experiences of ethnic Chinese using mental health services in Aotearoa New Zealand, indicated that this could also be a barrier for ethnic Chinese, who have similarly strong cultural links to familism, accessing mental health care. To balance the cultural importance of family involvement with the protection of individual patient autonomy, we propose a moderate Confucian familist approach, encouraging family involvement and participation in individual patients' care, with patients' consent. The approach acknowledges individual patients as interconnected members of a wider family unit, emphasising their reciprocal, mutual responsibility in maintaining a well-functioning, harmonious family. We highlight Whanau Ora as a potential exemplar for a culturally grounded, family-centred approach to mental health care which could be feasibly implemented and deliver positive outcomes. Parallels between Maori and ethnic Chinese cultural views around whanau, community, and collectivism suggest a Kaupapa Maori approach could also be beneficial to Aotearoa New Zealand's ethnic Chinese populations. However, ethnic Chinese lack the specific legal obligations empowering the implementation of interventions such as Whanau Ora. This is an obstacle which remains to be addressed before mental health services which are sensitive to the needs of ethnic Chinese or of other ethnicities can be effectively implemented.


Assuntos
Confucionismo , População do Leste Asiático , Família , Povo Maori , Saúde Mental , Humanos , População do Leste Asiático/psicologia , Nova Zelândia/epidemiologia , Filosofia , Confucionismo/psicologia , China/etnologia , Família/etnologia , Família/psicologia , Comparação Transcultural , Serviços de Saúde Mental
10.
Int J Qual Stud Health Well-being ; 18(1): 2221912, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37311124

RESUMO

PURPOSE: In 2017, international students contributed almost $32 billion to Australia's economy, more than half of which was attributable to students from China. Despite its historical popularity as a study destination, research suggests that these students confront numerous obstacles in pursuing their studies within Australia. In this study, the perspectives of these students were explored. The dominant issues raised by these students related to mental health and emotional wellbeing. METHODS: Nineteen students in one Australian university participated in one-on-one in-depth semi-structured interviews. Data were analysed using grounded theory approaches. Three broad themes were generated in the study: psychological stress (which was linked to language barriers, shifts in pedagogy, and changes in lifestyle); perceived safety (which was linked to lack of security, safety and perceived racial discrimination); and social isolation (linked to reduced sense of belonging; lacking close personal connections; and feelings of loneliness and homesickness). CONCLUSIONS: Results suggested that a tripartite model of interactive risk factors may be appropriate for exploring how international students fare emotionally with their new environments.


Assuntos
População do Leste Asiático , Emoções , Saúde Mental , Estudantes , Humanos , Austrália , População do Leste Asiático/psicologia , Solidão , Estudantes/psicologia , China/etnologia , Saúde Mental/etnologia , Internacionalidade
11.
Forensic Sci Int ; 346: 111637, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36934684

RESUMO

The insertion/deletion (InDel) polymorphism has promising applications in forensic DNA analysis. However, the insufficient forensic efficiencies of the present InDel-based systems restrict their applications in parentage testing, due to the lower genetic polymorphism of the biallelic InDel locus and the limited number of InDel loci in a multiplex amplification system. Here, we introduced an in-house developed system which contained 41 polymorphic Multi-InDel markers (equivalent to 82 InDels in total), to serve as an efficient and reliable tool for different forensic applications in the Manchu and Mongolian groups. We demonstrated that the new system exhibited potential efficiencies for personal identification, parentage testing, two-person DNA mixture interpretation and ancestry inference of intercontinental populations. Meanwhile, we explored the genetic backgrounds of the Manchu and Mongolian groups by conducting a series of population genetic analyses. We showed that the Manchu and Mongolian groups shared closer genetic relationships with East Asian populations, especially Han Chinese populations in northern China. Moreover, more similar genetic compositions were detected between the Manchu group and the northern Han populations in this study, suggesting that the Manchu group had higher genetic affinities with northern Han populations than the Mongolian group. Overall. this study provided the necessary evidence that these Multi-InDel genetic markers could play an important role in forensic applications.


Assuntos
População do Leste Asiático , Genética Forense , Humanos , China/etnologia , DNA/genética , População do Leste Asiático/etnologia , População do Leste Asiático/genética , Frequência do Gene , Genética Populacional , Polimorfismo Genético , Mongólia/etnologia
12.
J Hum Nutr Diet ; 36(4): 1576-1588, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36727422

RESUMO

BACKGROUND: The present study aimed to qualitatively explore the food choice determinants of both Chinese immigrants living in Australia and Chinese people living in mainland China. METHODS: Eight Chinese Australian participants (female, n = 5; male, n = 3) and ten mainland Chinese participants (female, n = 5; male, n = 5) were recruited from Australia (primarily in Melbourne, Victoria) and China (predominantly in Zhengzhou, Henan province) between June 2021 and March 2022. Participants were diverse in age, socio-economic background, occupation and health status. Semi-structured in-depth interviews were conducted in Mandarin either face-to-face or using online video/voice calls. Interviews were audio-recorded and transcribed verbatim. Investigator triangulation was used to enhance scientific rigour. RESULTS: Four themes were identified: (1) food choice determinants were shaped by traditional and modern nutrition perceptions and personal food philosophy; (2) physiological responses to food provide direct feedback that impacts future food choices; (3) consideration of convenience was a predominant influencer of food choice; and (4) the differences in food environments between China and Australia promoted distinctive food choice determinants for Chinese people. CONCLUSIONS: Chinese Australian and mainland Chinese participants' food choices are shaped by traditional Chinese nutrition philosophy, modern Western nutrition science and the contemporary food environment. There are clear cultural characteristics in their food choice determinants that should be considered by health educators, nutrition professionals and nutrition policymakers when developing culturally appropriate health interventions for Chinese people.


Assuntos
População do Leste Asiático , Emigrantes e Imigrantes , Preferências Alimentares , Feminino , Humanos , Masculino , China/epidemiologia , China/etnologia , População do Leste Asiático/estatística & dados numéricos , Emigrantes e Imigrantes/estatística & dados numéricos , Preferências Alimentares/etnologia , Vitória , Austrália/epidemiologia , Cultura
13.
J Interpers Violence ; 38(3-4): 3165-3190, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35616091

RESUMO

Although research has indicated the association between child abuse and non-suicidal self-injury (NSSI), few studies have examined their relationship in a particular sample of Chinese rural-to-urban migrant adolescents who tend to experience parental abuse and engage in NSSI. More importantly, factors moderating the relationship between child abuse and migrant adolescents' NSSI have been understudied. To address this issue, this study aimed to examine whether beliefs about adversity and family socioeconomic status (SES) moderated the longitudinal relationship between child abuse and NSSI in a sample of Chinese migrant adolescents. 308 Chinese rural-to-urban migrant adolescents (aged 10-14; 138 boys) completed the two-wave survey. Self-reported questionnaires regarding child abuse, NSSI, beliefs about adversity, and family SES were used. Results showed that child abuse was significantly positively related to NSSI a year later. Moreover, the interaction of child abuse, beliefs about adversity, and family SES was significant. Specifically, for migrant adolescents with low SES, positive beliefs about adversity played a protective role in the association between child abuse and NSSI; while for those with high SES, such beliefs showed vulnerability. Findings underscore the importance of considering multiple resilient factors simultaneously by examining beliefs about adversity and SES as the moderating mechanisms in the association between child abuse and NSSI. Findings also emphasize the significance of developing differential interventions targeting NSSI in abused Chinese migrant adolescents. Positive beliefs about adversity are important in buffering the negative effect of child abuse for migrant adolescents with low SES. For those with high SES, special attention should be given to the interactive impact of child abuse, beliefs about adversity, and family SES.


Assuntos
Maus-Tratos Infantis , Comportamento Autodestrutivo , Migrantes , Adolescente , Criança , Humanos , Masculino , Maus-Tratos Infantis/estatística & dados numéricos , Comportamento Autodestrutivo/epidemiologia , Classe Social , Migrantes/psicologia , Migrantes/estatística & dados numéricos , Feminino , China/etnologia
14.
Br J Ophthalmol ; 107(6): 795-801, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-35063932

RESUMO

PURPOSE: To assess the optimal number and orientation of anterior segment optical coherence tomography (AS-OCT) images for accurately measuring ocular biometric parameters in angle closure eyes. METHODS: Subjects with angle closure, defined as >3 quadrants of non-visible pigmented trabecular meshwork on static gonioscopy, were selected from the Chinese American Eye Study. Mean angle opening distance (AOD500) was calculated using four images (0°-180°, 45°-225°, 90°-270° and 135°-315° meridians) from one eye per subject. Ten eyes from each quartile of AOD500 measurements were randomly selected for detailed 32-image analysis of 10 biometric parameters, including AOD500, iris curvature (IC), anterior chamber depth (ACD), lens vault (LV), and anterior chamber area (ACA). Mean and range of measurements from 1, 2, 4, 8 or 16 images were compared with 32-image values for all parameters. RESULTS: 40 out of 335 eyes with angle closure were selected for 32-image analysis. Deviation from the 32-image mean was between 0.44% and 19.31% with one image, decreasing to 0.08% to 4.21% with two images for all parameters. Deviation from the 32-image range of measurements was between 54.67% to 88.94% with one image, decreasing to <7.00% with eight images for all parameters except ACD and ACA. Orienting the first image analysed along the 25°-205° meridian better approximated the range of measurements when four or fewer images were analysed. CONCLUSIONS: Sectoral anatomical variations in angle closure eyes are easily misrepresented based on current AS-OCT imaging conventions. A revised multi-image approach can better capture the mean and range of biometric measurements.


Assuntos
Segmento Anterior do Olho , Glaucoma de Ângulo Fechado , Humanos , Segmento Anterior do Olho/diagnóstico por imagem , Biometria , População do Leste Asiático , Glaucoma de Ângulo Fechado/diagnóstico , Gonioscopia , Pressão Intraocular , Iris/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Malha Trabecular/diagnóstico por imagem , Asiático , China/etnologia
15.
J Psycholinguist Res ; 52(2): 425-443, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35583585

RESUMO

Although written corrective feedback and collaborative writing have been extensively researched in second language writing, there have been few ecologically valid classroom-based studies. To bridge the gap, the current study proposed joint production as a pedagogy to integrate teacher-scaffolded feedback and collaborative dialogue and aimed to examine its effect on the development of second language writing. A quasi-experimental study was undertaken on two intact groups of EFL learners over an academic semester of 18 weeks. Results showed that the experimental group (N = 30) outperformed the control group (N = 29) significantly in accuracy, confirming the effectiveness of joint production in promoting accuracy in L2 writing. Developmentally, accuracy was steadily developed over time and was negatively correlated with complexity. Possible explanations and implications of the findings are also discussed.


Assuntos
Comportamento Cooperativo , Processos Grupais , Multilinguismo , Estudantes , Redação , Feminino , Humanos , Masculino , China/etnologia , Inglaterra , Feedback Formativo , Linguística , Pesquisa Qualitativa , Estudantes/psicologia , Leitura , Compreensão
16.
Pers Soc Psychol Bull ; 49(7): 1113-1129, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-35611400

RESUMO

An astonishing cultural phenomenon is where, far away from or close to a city center, people in different societies localize cemeteries that function as both sites of memory of lost ones and symbols of mortality. Yet a psychological account of such differences in behavioral responses to symbols of mortality is lacking. Across five studies (N = 1,590), we tested a psychological model that religious afterlife beliefs decrease behavioral avoidance of symbols of mortality (BASM) by developing and validating a word-position task for quantifying BASM. We showed evidence that religious believers, including Christians, Muslims, Hindus, and Buddhists, exhibited decreased BASM relative to nonbelievers. We also provide evidence for a causal relationship between religious afterlife beliefs and reduced BASM. Our findings provide new insight into the functional role of religious afterlife beliefs in modulating human avoidance behavior in response to symbols of mortality.


Assuntos
Atitude Frente a Morte , Budismo , Cristianismo , Hinduísmo , Islamismo , Religião e Psicologia , Simbolismo , Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Aprendizagem da Esquiva , Budismo/psicologia , Cemitérios/estatística & dados numéricos , China/etnologia , Cristianismo/psicologia , Cidades/estatística & dados numéricos , Cultura , Europa (Continente)/etnologia , Hinduísmo/psicologia , Islamismo/psicologia , Modelos Psicológicos , Autoimagem , População do Leste Asiático/psicologia
17.
Nucleic Acids Res ; 51(D1): D890-D895, 2023 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-35871305

RESUMO

A high-quality genome variation database derived from a large-scale population is one of the most important infrastructures for genomics, clinical and translational medicine research. Here, we developed the Chinese Millionome Database (CMDB), a database that contains 9.04 million single nucleotide variants (SNV) with allele frequency information derived from low-coverage (0.06×-0.1×) whole-genome sequencing (WGS) data of 141 431 unrelated healthy Chinese individuals. These individuals were recruited from 31 out of the 34 administrative divisions in China, covering Han and 36 other ethnic minorities. CMDB, housing the WGS data of a multi-ethnic Chinese population featuring wide geographical distribution, has become the most representative and comprehensive Chinese population genome database to date. Researchers can quickly search for variant, gene or genomic regions to obtain the variant information, including mutation basic information, allele frequency, genic annotation and overview of frequencies in global populations. Furthermore, the CMDB also provides information on the association of the variants with a range of phenotypes, including height, BMI, maternal age and twin pregnancy. Based on these data, researchers can conduct meta-analysis of related phenotypes. CMDB is freely available at https://db.cngb.org/cmdb/.


Assuntos
Bases de Dados Genéticas , População do Leste Asiático , Humanos , Frequência do Gene , Mutação , China/etnologia , População do Leste Asiático/genética , Variação Genética , Genética Populacional
18.
Rev. Hosp. Ital. B. Aires (2004) ; 42(3): 163-167, sept. 2022.
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1396921

RESUMO

El siguiente trabajo presenta la historia de una paciente de 19 años oriunda de China, que cursó una internación en una sala de psiquiatría de un hospital general por un cuadro de características depresivas. El caso es notable por el polimorfismo en la sintomatología clínica que presentó. El objetivo es analizar, a partir de él, la necesidad de un enfoque interdisciplinario que trate a la cultura como una variable significativa en la construcción de una enfermedad, entendiendo que los modelos fisiopatológicos resultan necesarios pero no suficientes para comprender de qué modo se constituye. Para dicho fin se hará un breve recorrido por los estudios efectuados en la década del 80 en China por el psiquiatra y antropólogo Arthur Kleiman y se desarrollará la perspectiva de la psicoanalista Helena Lunazzi, quien en su libro Alexitimia desarrolla cómo la cultura influye en la expresión verbal de las emociones. (AU)


The following work presents the history of a 19-year-old patient from China who was hospitalized in a psychiatric ward of a general hospital due to a depressive illness, being the case remarkable for the polymorphism in the clinical symptoms that she presented. The objective is to analyze the need for an interdisciplinary approach that treats culture as a significant variable in the construction of a disease, understanding that pathophysiological models are necessary but not sufficient to comprehend how they are constituted. For this purpose, a brief review will be made of the studies carried out in the 1980s in China by the psychiatrist and anthropologist Arthur Kleiman and the perspective of the psychoanalyst Lunazzi Helena, who in her book "Alexithymia" develops how culture influences the verbal expression of emotions. (AU)


Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Transtornos Psicofisiológicos/complicações , Comparação Transcultural , Depressão/complicações , Psicoterapia , Tradução , Etnicidade , China/etnologia , Saúde Mental/etnologia , Comunicação Interdisciplinar , Emigração e Imigração
19.
Nature ; 609(7927): 552-559, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36045292

RESUMO

Prostate cancer is characterized by considerable geo-ethnic disparity. African ancestry is a significant risk factor, with mortality rates across sub-Saharan Africa of 2.7-fold higher than global averages1. The contributing genetic and non-genetic factors, and associated mutational processes, are unknown2,3. Here, through whole-genome sequencing of treatment-naive prostate cancer samples from 183 ancestrally (African versus European) and globally distinct patients, we generate a large cancer genomics resource for sub-Saharan Africa, identifying around 2 million somatic variants. Significant African-ancestry-specific findings include an elevated tumour mutational burden, increased percentage of genome alteration, a greater number of predicted damaging mutations and a higher total of mutational signatures, and the driver genes NCOA2, STK19, DDX11L1, PCAT1 and SETBP1. Examining all somatic mutational types, we describe a molecular taxonomy for prostate cancer differentiated by ancestry and defined as global mutational subtypes (GMS). By further including Chinese Asian data, we confirm that GMS-B (copy-number gain) and GMS-D (mutationally noisy) are specific to African populations, GMS-A (mutationally quiet) is universal (all ethnicities) and the African-European-restricted subtype GMS-C (copy-number losses) predicts poor clinical outcomes. In addition to the clinical benefit of including individuals of African ancestry, our GMS subtypes reveal different evolutionary trajectories and mutational processes suggesting that both common genetic and environmental factors contribute to the disparity between ethnicities. Analogous to gene-environment interaction-defined here as a different effect of an environmental surrounding in people with different ancestries or vice versa-we anticipate that GMS subtypes act as a proxy for intrinsic and extrinsic mutational processes in cancers, promoting global inclusion in landmark studies.


Assuntos
População Negra , Neoplasias da Próstata , África/etnologia , África Subsaariana/etnologia , Povo Asiático/genética , População Negra/genética , Proteínas de Transporte/genética , China/etnologia , Etnicidade/genética , Europa (Continente)/etnologia , Humanos , Masculino , Mutação , Proteínas Nucleares/genética , Coativador 2 de Receptor Nuclear/genética , Neoplasias da Próstata/genética , RNA Helicases/genética , RNA Longo não Codificante/genética
20.
Genes Genomics ; 44(9): 1061-1070, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35353340

RESUMO

BACKGROUND: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including ARID1A and SMARCA4. So far, no CSS patients with ARID1A and SMARCA4 variants have been reported in China. OBJECTIVE: The aim of the current study was to identify the causes of two Chinese patients with congenital growth deficiency and intellectual disability. METHODS: Genomic DNA was extracted from the peripheral venous blood of patients and their family members. Genetic analysis included whole-exome and Sanger sequencing. Pathogenicity assessments of variants were performed according to the guideline of the American College of Medical Genetics and Genomics. The phenotypic characteristics of all CSS subtypes were summarized through literature review. RESULTS: We identified two Chinese CSS patients carrying novel variants of ARID1A and SMARCA4 respectively. The cases presented most core symptoms of CSS except for the digits involvement. Additionally, we performed a review of the phenotypic characteristics in CSS, highlighting phenotypic varieties and related potential causes. CONCLUSIONS: We reported the first Chinese CSS2 and CSS4 patients with novel variants of ARID1A and SMARCA4. Our study expanded the genetic and phenotypic spectrum of CSS, providing a comprehensive overview of genotype-phenotype correlations of CSS.


Assuntos
Anormalidades Múltiplas , Deformidades Congênitas da Mão , Deficiência Intelectual , Micrognatismo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Povo Asiático , China/etnologia , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Humanos , Deficiência Intelectual/genética , Micrognatismo/genética , Micrognatismo/patologia , Pescoço/anormalidades , Proteínas Nucleares/genética , Fatores de Transcrição/genética
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