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1.
Obes Rev ; : e13851, 2024 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-39415327

RESUMO

Food addiction (FA) could be a potential prognostic factor of weight loss intervention outcomes. This systematic review with meta-analysis aimed to (1) estimate this prognostic effect of FA diagnosis and symptom count in individuals with overweight or obesity and (2) explore potential sources of heterogeneity based on properties of the weight loss intervention, study, and sample (e.g., age, gender, ethnicity). We searched PubMed, PsycINFO, and Web of Science for studies reporting on associations between pre-intervention FA (assessed with the Yale Food Addiction Scale) and weight outcomes after weight loss intervention in individuals with overweight or obesity without a medically diagnosed eating disorder. Twenty-five studies met inclusion criteria, including 4904 individuals (71% women, Mage = 41 years, BMI = 40.82 kg/m2), k = 18 correlations of weight loss with FA symptom count, and k = 21 mean differences between FA diagnosis groups. Pooled estimates of random-effects meta-analyses found limited support for a detrimental effect of FA symptom count and diagnosis on weight loss intervention outcomes. Negative associations with FA increased for behavioral weight loss interventions and among more ethnically diverse samples. More research on the interaction of FA with pre-existing mental health problems and environmental factors is needed.

2.
HGG Adv ; 6(1): 100355, 2024 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-39323095

RESUMO

Polygenic scores (PGSs) are a promising tool for estimating individual-level genetic risk of disease based on the results of genome-wide association studies (GWASs). However, their promise has yet to be fully realized because most currently available PGSs were built with genetic data from predominantly European-ancestry populations, and PGS performance declines when scores are applied to target populations different from the populations from which they were derived. Thus, there is a great need to improve PGS performance in currently under-studied populations. In this work we leverage data from two large and diverse cohorts the Million Veterans Program (MVP) and All of Us (AoU), providing us the unique opportunity to compare methods for building PGSs for multi-ancestry populations across multiple traits. We build PGSs for five continuous traits and five binary traits using both multi-ancestry and single-ancestry approaches with popular Bayesian PGS methods and both MVP META GWAS results and population-specific GWAS results from the respective African, European, and Hispanic MVP populations. We evaluate these scores in three AoU populations genetically similar to the respective African, Admixed American, and European 1000 Genomes Project superpopulations. Using correlation-based tests, we make formal comparisons of the PGS performance across the multiple AoU populations. We conclude that approaches that combine GWAS data from multiple populations produce PGSs that perform better than approaches that utilize smaller single-population GWAS results matched to the target population, and specifically that multi-ancestry scores built with PRS-CSx outperform the other approaches in the three AoU populations.

4.
Sleep Health ; 10(5): 567-575, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39129127

RESUMO

OBJECTIVES: To modify an existing questionnaire Brief Infant Sleep Questionnaire - Revised (BISQ-R) to ensure that it is suitable to measure nocturnal sleep health in a diverse sample of young children from Aotearoa New Zealand whanau (families), and to develop a "Perception of Infant and Toddler Sleep Scale" (PoITSS) to use as a primary outcome measurement in an upcoming trial. METHODS: Items from the BISQ-R were adapted for use among ethnically diverse whanau, and tested online with caregivers of 0-2 year old children. A PoITSS score was generated by scaling the responses from three of the questionnaire items to create a value between 0 (very poor) and 10 (very good). Caregivers provided qualitative feedback about the ease of interpreting and answering questionnaire items. RESULTS: Caregivers of 957 children (35% Maori, 12% Pacific) completed the questionnaire. Few differences in children's nocturnal sleep were observed by demographic characteristics. The mean PoITSS score was 6.9 (SD 2.3) and was slightly higher among Maori children (mean difference 0.4, 95% CI 0.1, 0.7). Test-retest indicated good reliability (ICC=0.81). While the majority (86%) of caregivers did not find it difficult to answer any of the items which formed the PoITSS, qualitative feedback indicated that simple modifications to some items would help ensure that they would be well understood by most caregivers. CONCLUSIONS: Items from the BISQ-R were successfully adapted, and the PoITSS scale was shown to be appropriate, for use in ethnically diverse Aotearoa New Zealand whanau with young children.


Assuntos
Sono , Humanos , Nova Zelândia , Masculino , Feminino , Inquéritos e Questionários , Lactente , Pré-Escolar , Cuidadores/psicologia , Cuidadores/estatística & dados numéricos , Reprodutibilidade dos Testes , Recém-Nascido , Qualidade do Sono
5.
Artigo em Inglês | MEDLINE | ID: mdl-39200719

RESUMO

OBJECTIVE: The present study explores the cross-cultural validation of neuropsychological assessments and their clinical applications in cognitive behavioral therapy (CBT), focusing on culturally adapted CBT (CA-CBT) across diverse populations and settings. METHODS: Following the PRISMA guidelines, a comprehensive search was conducted in multiple academic databases, including PubMed, PsycINFO, Scopus, and Web of Science. Keywords related to cognitive behavioral therapy, cultural adaptation, and specific populations were used. The inclusion criteria encompassed randomized controlled trials (RCTs) and pilot studies that assessed CA-CBT for various mental health conditions. RESULTS: The review included studies involving Chinese Americans, Latino caregivers, Syrian refugees, Jordanian children, Malaysian Muslims, Afghan refugees, Iraqi women, Japanese children and adolescents, and Tanzanian and Kenyan children. CA-CBT demonstrated significant effectiveness in reducing symptoms of depression, anxiety, PTSD, and psychosis. For instance, research has shown that CA-CBT is more effective than standard CBT in reducing depressive symptoms among Chinese Americans and in significantly lowering PTSD symptoms in Syrian refugee women. This method has been well-received and is feasible for use in diverse populations, such as Jordanian children and Afghan refugees. The long-term benefits are promising, with sustained improvements being reported in various studies. Additionally, digital and remote delivery methods have demonstrated potential for expanding the accessibility of CA-CBT. CONCLUSIONS: CA-CBT is a valuable and effective intervention for diverse cultural populations, significantly improving mental health outcomes. However, future research must address limitations such as small sample sizes, short follow-up periods, and variability in assessment tools. Future studies should include larger and more diverse sample sizes, longer follow-up periods, rigorous control groups, and comprehensive outcome measures to further validate and enhance the application of CA-CBT across different cultural contexts.


Assuntos
Terapia Cognitivo-Comportamental , Terapia Cognitivo-Comportamental/métodos , Humanos , Testes Neuropsicológicos , Comparação Transcultural , Transtornos Mentais/terapia
7.
LGBT Health ; 2024 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-39158366

RESUMO

Sexually and gender diverse (SGD) populations experience an increased prevalence and severity of posttraumatic stress disorder (PTSD) compared with the general population. Minority stress theory contextualizes this increased disease burden by outlining how stigma and discrimination (e.g., homophobia and transphobia) contribute to worse mental health outcomes. The standard-of-care pharmacotherapy for PTSD is associated with significant treatment resistance. 3,4-Methylenedioxymethamphetamine (MDMA)-assisted psychotherapy (MDMA-AP) has emerged as an investigational treatment for PTSD but has lacked consideration for SGD populations. This article explores next steps in clinical trial design and implementation for the study of MDMA-AP with SGD populations who have PTSD.

8.
Trauma Violence Abuse ; : 15248380241270083, 2024 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-39150320

RESUMO

Intimate partner violence (IPV), inclusive of all forms of abuse, is an ongoing public health and criminal-legal issue that transcends social boundaries. However, there is a lack of equitable representation of diverse populations who experience IPV in the literature. To garner a holistic knowledge of diverse IPV survivor populations' experiences with seeking help from the police, the current review utilized a qualitative research synthesis methodology to explore police interactions among six IPV survivor populations that are underrepresented in the current literature: women with substance use issues, immigrant women, women in rural localities, heterosexual men, racially/ethnically minoritized women, and sexual minority women. Seven electronic databases were searched to identify peer-reviewed articles on IPV survivors' narrative descriptions (qualitative or mixed-methods) of their encounters with law enforcement. The final analysis included 28 studies that were then coded with an iterative coding strategy. The analysis uncovered the following themes: (a) revictimization by the police, (b) police negligence, (c) discrimination, (d) cultural differences, and (e) positive experiences. These themes demonstrated that while some experiences with law enforcement were shared between under-researched survivor groups, some experiences were explicitly tied to some aspects of survivors' identities. Recognizing the potential law enforcement has to support survivors, the findings of the current review reiterate the need for ongoing efforts to improve law enforcement knowledge and overall response to IPV, especially for diverse populations of IPV survivors.

9.
Train Educ Prof Psychol ; 18(3): 221-229, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39081902

RESUMO

Addressing systemic injustices and racism in training and clinical service provision are key next steps in clinical science. While the APA Multicultural Guidelines and accreditation standards have long emphasized this need, most graduate programs offer a single course on diversity, equity, and inclusion topics, which is inadequate to train and sustain culturally humble providers and redress systemic injustices and racism within psychology. Few "real-world" examples exist to guide the development of training models. We provide background on the development and components of a specialty clinic, the University of New Mexico's Cultural Counseling Center, whose mission is providing culturally informed clinical services to diverse clientele, and to infuse multicultural training throughout the graduate program. Informed by the racial-spatial framework for psychology and critical race theory, we describe our approach intended to: 1) offer applications for the operationalization and delivery of multicultural and antiracist training; 2) enhance supervisory models; and 3) increase awareness of structural competence. Our clinic, developed collaboratively among students and faculty, serves as a safe forum for dialogue around structural injustices and seeks to improve treatment for diverse clients and those underserved in mental health care. We discuss issues of student and faculty engagement and offer the perspectives of faculty and students of color, case examples illustrating our services, and current efforts to expand and formalize community collaborations. We offer a model that integrates coursework, informal activities, and multicultural supervision for comprehensive student training and that promotes a departmental culture of dialogue and support around equity, diversity, and justice.

10.
Cancer Med ; 13(14): e70033, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39043209

RESUMO

BACKGROUND: Disparities in cervical cancer screening rates among marginalized groups is a driver of inequalities in cervical cancer. Self-sampling for human papillomavirus (HPV) testing is a newly emerging alternative to clinician-performed testing to screen for cervical cancer, and has high potential to reduce screening barriers in under-screened and marginalized groups. We study the acceptability in of HPV self-sampling and informational materials among Black/African American, Hispanic/Spanish speaking, American Indian/Alaska Native and transgender/nonbinary populations. METHODS: We conducted qualitative interviews with patients, ages 30-65, who were Black/African American, Hispanic, American Indian, and/or transgender/nonbinary individuals assigned female at birth. Telephone interviews were conducted in English or Spanish. Patients did not complete the test, rather were asked about the attractiveness, comprehensibility, and acceptability of the HPV self-test, instructions, and messaging. RESULTS: Among 23 completed interviews (5 American Indian/Alaska Native, 7 Hispanic [2 bilingual, 5 Spanish-speaking], 5 Black/African American, and 6 transgender/nonbinary), patients from all groups thought the test was straightforward and convenient, and they would complete the test at home or in clinic. The transgender/nonbinary patients preferred at-home testing. American Indian and transgender/nonbinary patients liked that the test might avoid pain, discomfort, and invasiveness. All patients liked the letter and instructions. All groups had specific suggestions for making the materials more culturally acceptable. CONCLUSIONS: The HPV self-test and the instructions and materials for use were acceptable for a diverse group of patients. Tailored outreach and messaging should be considered to reduce screening disparities among groups that have been historically underserved by the medical system.


Assuntos
Infecções por Papillomavirus , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Detecção Precoce de Câncer/psicologia , Detecção Precoce de Câncer/métodos , Papillomavirus Humano/isolamento & purificação , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/virologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Pesquisa Qualitativa , Manejo de Espécimes/métodos , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/virologia
11.
Artigo em Inglês | MEDLINE | ID: mdl-39008360

RESUMO

In celebration of the National Institute on Aging's (NIA) 50th anniversary, this paper highlights the significant advances in cognitive aging research and the promotion of cognitive health among older adults. Since its inception in 1974, the NIA has played a pivotal role in understanding cognitive aging, including cognitive epidemiology, interventions, and methods, for measuring cognitive change. Key milestones include the shift toward understanding cognitive impairment and Alzheimer's disease and Alzheimer's disease-related dementias (AD/ADRD), the development of large-scale longitudinal studies, and the incorporation of AD/ADRD-related biomarkers in cognitive aging cohorts. Additionally, NIA has championed diversifying the scientific workforce through initiatives, such as the Resource Centers for Minority Aging Research and the Butler-Williams Scholars Program. The next 50 years will continue to emphasize the importance of inclusion, innovation, and impactful research to enhance the cognitive health and well-being of older adults.


Assuntos
Aniversários e Eventos Especiais , Envelhecimento Cognitivo , National Institute on Aging (U.S.) , Humanos , Envelhecimento Cognitivo/psicologia , Estados Unidos/epidemiologia , Idoso , História do Século XXI , História do Século XX , Pesquisa Biomédica/história , Pesquisa Biomédica/tendências , Disfunção Cognitiva , Doença de Alzheimer/história , Doença de Alzheimer/psicologia , Envelhecimento/psicologia
12.
J Am Heart Assoc ; 13(10): e034364, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38726919

RESUMO

BACKGROUND: Comprehensive blood lipoprotein profiles and their association with incident coronary heart disease (CHD) among racially and geographically diverse populations remain understudied. METHODS AND RESULTS: We conducted nested case-control studies of CHD among 3438 individuals (1719 pairs), including 1084 White Americans (542 pairs), 1244 Black Americans (622 pairs), and 1110 Chinese adults (555 pairs). We examined 36 plasma lipids, lipoproteins, and apolipoproteins, measured by nuclear magnetic resonance spectroscopy, with incident CHD among all participants and subgroups by demographics, lifestyle, and metabolic health status using conditional or unconditional logistic regression adjusted for potential confounders. Conventionally measured blood lipids, that is, total cholesterol, triglycerides, low-density lipoprotein-cholesterol, and high-density lipoprotein-cholesterol, were each associated with incident CHD, with odds ratios (ORs) being 1.33, 1.32, 1.24, and 0.79 per 1-SD increase among all participants. Seventeen lipoprotein biomarkers showed numerically stronger associations than conventional lipids, with ORs per 1-SD among all participants ranging from 1.35 to 1.57 and a negative OR of 0.78 (all false discovery rate <0.05), including apolipoprotein B100 to apolipoprotein A1 ratio (OR, 1.57 [95% CI, 1.45-1.7]), low-density lipoprotein-triglycerides (OR, 1.55 [95% CI, 1.43-1.69]), and apolipoprotein B (OR, 1.49 [95% CI, 1.37-1.62]). All these associations were significant and consistent across racial groups and other subgroups defined by age, sex, smoking, obesity, and metabolic health status, including individuals with normal levels of conventionally measured lipids. CONCLUSIONS: Our study highlighted several lipoprotein biomarkers, including apolipoprotein B/ apolipoprotein A1 ratio, apolipoprotein B, and low-density lipoprotein-triglycerides, strongly and consistently associated with incident CHD. Our results suggest that comprehensive lipoprotein measures may complement the standard lipid panel to inform CHD risk among diverse populations.


Assuntos
Apolipoproteínas , Biomarcadores , Negro ou Afro-Americano , Doença das Coronárias , Lipoproteínas , População Branca , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Doença das Coronárias/sangue , Doença das Coronárias/epidemiologia , Doença das Coronárias/etnologia , Doença das Coronárias/diagnóstico , Estudos Prospectivos , Estudos de Casos e Controles , Lipoproteínas/sangue , Idoso , Apolipoproteínas/sangue , Biomarcadores/sangue , Lipídeos/sangue , Incidência , Asiático/estatística & dados numéricos , Adulto , Estados Unidos/epidemiologia , Fatores de Risco , Medição de Risco , Espectroscopia de Ressonância Magnética , Triglicerídeos/sangue
13.
Artigo em Inglês | MEDLINE | ID: mdl-38767217

RESUMO

OBJECTIVES: This study examines how family relationships convey risk or resilience for pain outcomes for aging African Americans, and to replicate and extend analyses across 2 nationally representative studies of aging health. METHODS: African American participants in Midlife in the United States (MIDUS, N = 755) and the Health and Retirement Study (HRS, N = 2,585) self-reported chronic pain status at 2006 waves and then again 10 years later. Logistic regression was used to estimate the odds of pain incidence and persistence explained by family, intimate partner, and parent-child strain and support, as well as average support and average strain across relationships. RESULTS: On average, MIDUS participants were younger (M = 52.35, SD = 12.06; 62.1% female) than HRS (M = 66.65, SD = 10.92; 63.7% female). Family support and average support were linked to decreased odds of pain incidence in MIDUS, but only when tested without accounting for strain, whereas parent-child strain was a risk factor for pain incidence in HRS, as was average strain. Family support protected against pain persistence in MIDUS, whereas average support was linked to reduced odds of pain persisting in HRS. DISCUSSION: Chronic pain outcomes are worse for African Americans for a number of reasons, but parent-child strain may contribute to the risk of new pain developing over time for older adults. Conversely, family support may offer a protective benefit for pain incidence and persistence among aging African Americans. Findings implicate family relationships as a potential target of pain management interventions.


Assuntos
Negro ou Afro-Americano , Dor Crônica , Relações Familiares , Humanos , Feminino , Masculino , Negro ou Afro-Americano/estatística & dados numéricos , Negro ou Afro-Americano/psicologia , Dor Crônica/etnologia , Dor Crônica/psicologia , Dor Crônica/epidemiologia , Pessoa de Meia-Idade , Incidência , Idoso , Estudos Longitudinais , Relações Familiares/psicologia , Estados Unidos/epidemiologia , Apoio Social , Fatores de Risco , Envelhecimento/psicologia , Envelhecimento/etnologia , Adulto
14.
Aging Ment Health ; 28(11): 1502-1510, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38738650

RESUMO

OBJECTIVES: Perceived discrimination is associated with racial cognitive health disparities. Links between discrimination and cognitive performance, like working memory, in everyday settings (i.e. ambulatory performance) require investigation. Depressive symptoms may be a mechanism through which discrimination relates to ambulatory working memory. METHOD: Discrimination, retrospective and momentary depressive symptoms/mood, and aggregated and momentary working memory performance among older Black and White adults were examined within the Einstein Aging Study. RESULTS: Racially stratified analyses revealed that discrimination did not relate to Black or White adults' ambulatory working memory. Among Black adults, however, more frequent discrimination was associated with greater retrospectively reported depressive symptoms, which related to more working memory errors across two weeks (indirect effect p < 0.05). This path was not significant among White adults. Links between discrimination and momentary working memory were not explained by momentary reports of depressed mood for Black or White adults. CONCLUSION: Depressive symptoms may play an important role in the link between discrimination and ambulatory working memory among Black adults across extended measurements, but not at the momentary level. Future research should address ambulatory cognition and momentary reports of discrimination and depression to better understand how to minimize cognitive health disparities associated with discrimination.


Assuntos
Negro ou Afro-Americano , Depressão , Memória de Curto Prazo , Racismo , Brancos , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Negro ou Afro-Americano/psicologia , Depressão/etnologia , Racismo/etnologia , Estudos Retrospectivos , Brancos/psicologia
15.
16.
Genet Epidemiol ; 48(6): 241-257, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38606643

RESUMO

Recent advancement in genome-wide association studies (GWAS) comes from not only increasingly larger sample sizes but also the shift in focus towards underrepresented populations. Multipopulation GWAS increase power to detect novel risk variants and improve fine-mapping resolution by leveraging evidence and differences in linkage disequilibrium (LD) from diverse populations. Here, we expand upon our previous approach for single-population fine-mapping through Joint Analysis of Marginal SNP Effects (JAM) to a multipopulation analysis (mJAM). Under the assumption that true causal variants are common across studies, we implement a hierarchical model framework that conditions on multiple SNPs while explicitly incorporating the different LD structures across populations. The mJAM framework can be used to first select index variants using the mJAM likelihood with different feature selection approaches. In addition, we present a novel approach leveraging the ideas of mediation to construct credible sets for these index variants. Construction of such credible sets can be performed given any existing index variants. We illustrate the implementation of the mJAM likelihood through two implementations: mJAM-SuSiE (a Bayesian approach) and mJAM-Forward selection. Through simulation studies based on realistic effect sizes and levels of LD, we demonstrated that mJAM performs well for constructing concise credible sets that include the underlying causal variants. In real data examples taken from the most recent multipopulation prostate cancer GWAS, we showed several practical advantages of mJAM over other existing multipopulation methods.


Assuntos
Teorema de Bayes , Estudo de Associação Genômica Ampla , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Humanos , Estudo de Associação Genômica Ampla/métodos , Modelos Genéticos , Neoplasias da Próstata/genética , Masculino , Funções Verossimilhança , Modelos Estatísticos , Mapeamento Cromossômico/métodos , Mapeamento Cromossômico/estatística & dados numéricos , Simulação por Computador
17.
Ethn Health ; 29(4-5): 523-532, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38591263

RESUMO

OBJECTIVES: Engagement in work has an important association with cognitive health in later life, yet little is known about this association among Native Hawaiian and other Pacific Islander (NHPI) older adults. This study assesses the associations between various work characteristics and memory problems among this population. DESIGN: Using data from the 2014 Native Hawaiian and Pacific Islander National Health Interview Survey (NHPI NHIS), the research question was explored among those who were aged 50+. RESULTS: Engagement in work, certain occupation types (e.g., clerical or professional occupations compared to blue-collar jobs), and the current/most recent job that is also the longest job held were associated with lower odds of having memory problems. CONCLUSION: The study's results suggest that work characteristics and opportunities to engage in work are important considerations in preventing memory problems in later life. As the NHPI population experiences cognitive health disparities earlier than other groups, timely interventions that focus on work engagement and a culturally relevant environment require further investigation.


Assuntos
Havaiano Nativo ou Outro Ilhéu do Pacífico , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Emprego/psicologia , Inquéritos Epidemiológicos , Memória , Transtornos da Memória/etnologia , Transtornos da Memória/psicologia , Havaiano Nativo ou Outro Ilhéu do Pacífico/psicologia , Ocupações , Autorrelato
18.
Alzheimers Dement ; 20(5): 3290-3304, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38511601

RESUMO

INTRODUCTION: Genome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci. METHODS: We performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases = 2184, N controls = 2383) and targeted analyses in subpopulations using WGS data from the Alzheimer's Disease Sequencing Project (ADSP). The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants. RESULTS: Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses. DISCUSSION: This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.


Assuntos
Doença de Alzheimer , Estudo de Associação Genômica Ampla , Sequenciamento Completo do Genoma , Humanos , Doença de Alzheimer/genética , Feminino , Masculino , Predisposição Genética para Doença/genética , Idoso , Polimorfismo de Nucleotídeo Único/genética , Variação Genética/genética
19.
Genome Med ; 16(1): 31, 2024 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355597

RESUMO

BACKGROUND: Population screening for risk of type 1 diabetes (T1D) has been proposed to identify those with islet autoimmunity (presence of islet autoantibodies). As islet autoantibodies can be transient, screening with a genetic risk score has been proposed as an entry into autoantibody testing. METHODS: Children were recruited from eight general pediatric and specialty clinics across Virginia with diverse community settings. Recruiters in each clinic obtained informed consent/assent, a medical history, and a saliva sample for DNA extraction in children with and without a history of T1D. A custom genotyping panel was used to define T1D genetic risk based upon associated SNPs in European- and African-genetic ancestry. Subjects at "high genetic risk" were offered a separate blood collection for screening four islet autoantibodies. A follow-up contact (email, mail, and telephone) in one half of the participants determined interest and occurrence of subsequent T1D. RESULTS: A total of 3818 children aged 2-16 years were recruited, with 14.2% (n = 542) having a "high genetic risk." Of children with "high genetic risk" and without pre-existing T1D (n = 494), 7.0% (34/494) consented for autoantibody screening; 82.4% (28/34) who consented also completed the blood collection, and 7.1% (2/28) of them tested positive for multiple autoantibodies. Among children with pre-existing T1D (n = 91), 52% (n = 48) had a "high genetic risk." In the sample of children with existing T1D, there was no relationship between genetic risk and age at T1D onset. A major factor in obtaining islet autoantibody testing was concern over SARS-CoV-2 exposure. CONCLUSIONS: Minimally invasive saliva sampling implemented using a genetic risk score can identify children at genetic risk of T1D. Consent for autoantibody screening, however, was limited largely due to the SARS-CoV-2 pandemic and need for blood collection.


Assuntos
Diabetes Mellitus Tipo 1 , Criança , Humanos , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/genética , Virginia , Fatores de Risco , Autoanticorpos/genética , Autoimunidade/genética , Estratificação de Risco Genético
20.
J Clin Med ; 13(4)2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38398418

RESUMO

Background: The current study explores the genetic underpinnings of cardiac arrhythmia phenotypes within Middle Eastern populations, which are under-represented in genomic medicine research. Methods: Whole-genome sequencing data from 14,259 individuals from the Qatar Biobank were used and contained 47.8% of Arab ancestry, 18.4% of South Asian ancestry, and 4.6% of African ancestry. The frequency of rare functional variants within a set of 410 candidate genes for cardiac arrhythmias was assessed. Polygenic risk score (PRS) performance for atrial fibrillation (AF) prediction was evaluated. Results: This study identified 1196 rare functional variants, including 162 previously linked to arrhythmia phenotypes, with varying frequencies across Arab, South Asian, and African ancestries. Of these, 137 variants met the pathogenic or likely pathogenic (P/LP) criteria according to ACMG guidelines. Of these, 91 were in ACMG actionable genes and were present in 1030 individuals (~7%). Ten P/LP variants showed significant associations with atrial fibrillation p < 2.4 × 10-10. Five out of ten existing PRSs were significantly associated with AF (e.g., PGS000727, p = 0.03, OR = 1.43 [1.03, 1.97]). Conclusions: Our study is the largest to study the genetic predisposition to arrhythmia phenotypes in the Middle East using whole-genome sequence data. It underscores the importance of including diverse populations in genomic investigations to elucidate the genetic landscape of cardiac arrhythmias and mitigate health disparities in genomic medicine.

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