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1.
J Psychiatr Pract ; 30(3): 192-199, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38819243

RESUMO

Health care workers experience high rates of burnout and psychiatric distress. A large health care system in the southwest United States developed a comprehensive mental health service model for employees. Services offered range from traditional benefits (eg, Employee Assistance Program), resiliency and well-being initiatives, and innovative technology solutions, to access to peer support services for professional practice issues. The latest innovation in services is a free, self-insured outpatient mental health clinic designed exclusively for health care workers and their dependents. In this article, the authors describe the development of expanded mental health programming for health care workers and discuss how this unique service model proactively reduces common barriers to the receipt of high-quality care. This approach to caring for the workforce may serve as a model for other health care organizations across the United States. By providing mental health support to employees, health care organizations are mitigating the risk of burnout and related consequences to the system.


Assuntos
Esgotamento Profissional , Pessoal de Saúde , Serviços de Saúde Mental , Humanos , Esgotamento Profissional/prevenção & controle , Esgotamento Profissional/psicologia , Pessoal de Saúde/psicologia , Sudoeste dos Estados Unidos , Estados Unidos , Adulto
2.
J Affect Disord ; 331: 50-56, 2023 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-36933668

RESUMO

BACKGROUND: Traumatic life events are associated with the development of psychiatric and chronic medical illnesses. This exploratory study examined the relationship between traumatic life events and the gut microbiota among adult psychiatric inpatients. METHODS: 105 adult psychiatric inpatients provided clinical data and a single fecal sample shortly after admission. A modified version of the Stressful Life Events Screening Questionnaire was used to quantify history of traumatic life events. 16S rRNA gene sequencing was used to analyze the gut microbial community. RESULTS: Gut microbiota diversity was not associated with overall trauma score or any of the three trauma factor scores. Upon item-level analysis, history of childhood physical abuse was uniquely associated with beta diversity. Linear Discriminant Analysis Effect Size (LefSe) analyses revealed that childhood physical abuse was associated with abundance of distinct bacterial taxa associated with inflammation. LIMITATIONS: This study did not account for dietary differences, though diet was highly restricted as all participants were psychiatric inpatients. Absolute variance accounted for by the taxa was small though practically meaningful. The study was not powered for full subgroup analysis based on race and ethnicity. CONCLUSIONS: This study is among the first to demonstrate a relationship between childhood physical abuse and gut microbiota composition among adult psychiatric patients. These findings suggest that early childhood adverse events may have long-conferred systemic consequences. Future efforts may target the gut microbiota for the prevention and/or treatment of psychiatric and medical risk associated with traumatic life events.


Assuntos
Microbioma Gastrointestinal , Microbiota , Humanos , Adulto , Pré-Escolar , Microbioma Gastrointestinal/genética , Pacientes Internados , RNA Ribossômico 16S/genética , Abuso Físico
3.
Artigo em Inglês | MEDLINE | ID: mdl-36122838

RESUMO

BACKGROUND: Comorbid anxiety and depression are common and are associated with greater disease burden than either alone. Our recent efforts have identified an association between gut microbiota dysfunction and severity of anxiety and depression. In this follow-up, we applied Differential Co-Expression Analysis (DiffCoEx) to identify potential gut microbiota biomarker(s) candidates of treatment resistance among psychiatric inpatients. METHODS: In a sample of convenience, 100 psychiatric inpatients provided clinical data at admission and discharge; fecal samples were collected early during the hospitalization. Whole genome shotgun sequencing methods were used to process samples. DiffCoEx was used to identify clusters of microbial features significantly different based on treatment resistance status. Once overlapping features were identified, a knowledge-mining tool was used to review the literature using a list of microbial species/pathways and a select number of medical subject headlines (MeSH) terms relevant for depression, anxiety, and brain-gut-axis dysregulation. Network analysis used overlapping features to identify microbial interactions that could impact treatment resistance. RESULTS: DiffCoEx analyzed 10,403 bacterial features: 43/44 microbial features associated with depression treatment resistance overlapped with 43/114 microbial features associated with anxiety treatment resistance. Network analysis resulted in 8 biological interactions between 16 bacterial species. Clostridium perfringens evidenced the highest connection strength (0.95). Erysipelotrichaceae bacterium 6_1_45 has been most widely examined, is associated with inflammation and dysbiosis, but has not been associated with depression or anxiety. CONCLUSION: DiffCoEx potentially identified gut bacteria biomarker candidates of depression and anxiety treatment-resistance. Future efforts in psychiatric microbiology should examine the mechanistic relationship of identified pro-inflammatory species, potentially contributing to a biomarker-based algorithm for treatment resistance.


Assuntos
Microbioma Gastrointestinal , Humanos , Microbioma Gastrointestinal/genética , Depressão , Pacientes Internados , Ansiedade , Biomarcadores
4.
J Psychiatr Pract ; 28(3): 193-202, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35511095

RESUMO

The health care delivery system in the United States, structured to provide single-disease care, presents unique challenges for patients with complex physical and psychiatric comorbidities. Patients in these populations are often referred to multiple specialty clinics, encounter little continuity of care or collaboration among their providers, incur high health care costs, and experience poor treatment outcomes. Given these barriers, questions remain about the extent to which siloed and fragmented care, as opposed to the complex nature of the illnesses themselves, contribute to poor outcomes. If given the opportunity to receive well-integrated, consistent, and personalized care, can patients with historically difficult-to-treat comorbid medical and mental illnesses make progress? This article describes an innovative model of care called functional rehabilitation that is designed to address existing barriers in treatment. The functional rehabilitation program seeks to disrupt the escalating effects of interacting comorbidities by offering highly collaborative treatment from a small team of clinicians, personalized interventions using a shared decision-making framework, multipronged treatment options, colocation in a large hospital system, and significant 1:1 time with patients. The article includes a case example with longitudinal outcome data that illustrates how progress can be made with appropriate programmatic supports. Future research should examine the cost-effectiveness of this model of care.


Assuntos
Transtornos Mentais , Comorbidade , Humanos , Transtornos Mentais/terapia , Encaminhamento e Consulta , Resultado do Tratamento
5.
J Med Internet Res ; 22(10): e22523, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32936768

RESUMO

As the demand for telepsychiatry increases during the COVID-19 pandemic, the strengths and challenges of telepsychiatry implementation must be articulated to improve clinical practices in the long term. Currently, observations within US contexts are lacking; therefore, we report on the rapid implementation of telepsychiatry and workflow experiences in a psychiatric practice based within a large health care system in southeast Texas with a national catchment area. We discuss the logistics of the implementation, including modes of communication, scheduling, coordination, and capacity; the psychological effects of web-based services, including both the loss of the physical therapeutic environment and the unique interpersonal dynamics experienced in the virtual environment; and postadoption patterns of engagement with our services and with other clinical functions affected by the rapid adaptation to telemedicine. Our art therapy group programming serves as an applied case study, demonstrating the value of a well-managed web-based program (eg, patients were receptive and well-engaged, and they appreciated the continuity of accessible service) as well as the challenges (eg, the need for backup plans and technological fallbacks, managing interruptions and telecommunication learning curves, and working around the difference in resources for art and music therapy between a well-stocked clinical setting versus clients' home spaces). We conclude from our experience that the overall strengths of telepsychiatry include receptive and well-engaged responses from patients as well as the expansion of boundaries, which provides a directly contextualized view into patients' home lives. Challenges and corresponding recommendations include the need for more careful safety planning for high-risk patients; maintaining professional boundaries in the newly informal virtual setting; designing the physical space to both frame the patient encounter and maintain work-life balance for the therapist; allowing for delays and interruptions (including an initial acclimation session); and preserving interprofessional care team collaboration when the physical locations that normally facilitate such encounters are not accessible. We believe that careful observations of the strengths and challenges of telepsychiatry during this pandemic will better inform practices that are considering telepsychiatry adoption both within pandemic contexts and more broadly thereafter.


Assuntos
Instituições de Assistência Ambulatorial/organização & administração , Infecções por Coronavirus/epidemiologia , Pacientes Ambulatoriais , Pneumonia Viral/epidemiologia , Telemedicina/organização & administração , Betacoronavirus , COVID-19 , Comunicação , Infecções por Coronavirus/psicologia , Atenção à Saúde/organização & administração , Recursos em Saúde , Humanos , Pandemias , Pneumonia Viral/psicologia , SARS-CoV-2 , Texas/epidemiologia
6.
Int J Psychiatry Med ; 55(4): 281-295, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32052666

RESUMO

OBJECTIVE: U.S. military special operation forces represent the most elite units of the U.S. Armed Forces. Their selection is highly competitive, and over the course of their service careers, they experience intensive operational training and combat deployment cycles. Yet, little is known about the health-care needs of this unique population. METHOD: Professional consultations with over 50 special operation forces operators (and many spouses or girlfriends) over the past 6 years created a naturalistic, observational base of knowledge that allowed our team to identify a unique pattern of interrelated medical and behavioral health-care needs. RESULTS: We identified a consistent pattern of health-care difficulties within the special operation forces community that we and other special operation forces health-care providers have termed "Operator Syndrome." This includes interrelated health and functional impairments including traumatic brain injury effects; endocrine dysfunction; sleep disturbance; obstructive sleep apnea; chronic joint/back pain, orthopedic problems, and headaches; substance abuse; depression and suicide; anger; worry, rumination, and stress reactivity; marital, family, and community dysfunction; problems with sexual health and intimacy; being "on guard" or hypervigilant; memory, concentration, and cognitive impairments; vestibular and vision impairments; challenges of the transition from military to civilian life; and common existential issues. CONCLUSIONS: "Operator Syndrome" may be understood as the natural consequences of an extraordinarily high allostatic load; the accumulation of physiological, neural, and neuroendocrine responses resulting from the prolonged chronic stress; and physical demands of a career with the military special forces. Clinical research and comprehensive, intensive immersion programs are needed to meet the unique needs of this community.


Assuntos
Medicina do Comportamento , Necessidades e Demandas de Serviços de Saúde , Militares/psicologia , Equipe de Assistência ao Paciente , Transtornos de Estresse Pós-Traumáticos/psicologia , Alostase , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/psicologia , Estudos Transversais , Humanos , Masculino , Militares/estatística & dados numéricos , Estudos Observacionais como Assunto , Equipe de Assistência ao Paciente/estatística & dados numéricos , Fatores de Risco , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/psicologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Suicídio/psicologia , Síndrome , Estados Unidos , Prevenção do Suicídio
7.
Psychotherapy (Chic) ; 56(1): 91-99, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30431293

RESUMO

In today's world of smart-device monitoring systems, clinicians may be lulled into the assumption that we can download software to monitor our patients' psychological and behavioral functioning with little or no effort or follow-up. This belief is as erroneous as it is tempting; in fact, implementing effective and efficient systems for utilizing patient-reported outcomes (PROs) in daily practice and research takes a virtual village of stakeholders, clinicians, developers, analysts, and clinical researchers. Here, we describe the iterative processes required for designing, implementing, and updating a large-scale inpatient psychiatric quality improvement/research platform that provides real-time feedback to clinicians and patients. During the past 10 years, many surprises and counterintuitive discoveries have emerged from this project, not the least of which is how difficult it is to establish and maintain "buy-in" and the utilization of PROs with busy clinicians and administrators. Methods for prioritizing and structuring data for different uses, including examining the effectiveness of treatment programs, identifying moderators of change, and improving treatment planning by developing algorithms to alert clinicians to adverse outcomes, are highlighted. The authors conclude by describing a new venture to integrate biological data and between-visit PROs monitoring to enhance well-being and reduce emergency department and hospital admissions for high-risk patients. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Hospitais Psiquiátricos , Transtornos Mentais/terapia , Medidas de Resultados Relatados pelo Paciente , Melhoria de Qualidade , Humanos , Software
9.
Contemp Clin Trials ; 54: 36-47, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28039022

RESUMO

BACKGROUND: Available treatments for chronic pain (CP) are modestly effective or associated with iatrogenic harm. Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation technique that may be an effective, adjunctive treatment to non-opioid therapies. In this randomized control trial (RCT), we compare adjunctive active versus sham tDCS among patients in a multimodal inpatient pain management program. The primary objectives of the RCT are to improve pain tolerance and subjective pain experience. METHODS AND DESIGN: Patients admitted to the Pain Management Program at The Menninger Clinic in Houston, Texas are eligible for this trial. Eighty-four participants will be randomized (1:1) into a single-blind, 2×12 (group×time) controlled trial. A battery-powered direct and constant current stimulator (Soterix Medical Inc. 2014) delivers anodal stimulation over the left dorsolateral prefrontal cortex (DLPFC) and cathodal stimulation over the right DLPFC. Active tDCS is applied by supplying a 2mA current for 20min/session over 10 sessions. Participants complete self-report and performance-based assessments on a weekly basis just prior to brain stimulation. Self-report assessments are collected via Chronic Pain Tracker version 3.6, an iPad interfaced application. The performance-based pain tolerance task is completed through the cold presser task. DISCUSSION: Interventions with cross-symptomatic therapeutic potential are absolutely essential in the context of CP, in which psychiatric comorbidity is the norm. Modalities that can be used in tandem with evidence-based, non-opioid therapies have the potential to have a synergistic effect, resulting in increased effectiveness of what have been modestly effective treatments to date.


Assuntos
Analgésicos não Narcóticos/uso terapêutico , Dor Crônica/terapia , Manejo da Dor/métodos , Estimulação Transcraniana por Corrente Contínua/métodos , Humanos , Clínicas de Dor , Córtex Pré-Frontal , Método Simples-Cego
10.
Continuum (Minneap Minn) ; 21(3 Behavioral Neurology and Neuropsychiatry): 806-17, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26039856

RESUMO

PURPOSE OF REVIEW: This article reviews the current information about the diagnostic criteria, pathophysiology, and treatment of personality disorders. These disorders are common in the general population and even more common in medical settings. Rigid thinking and inflexible behavior patterns are characteristic of all personality disorders. The related impairment in social adaptation and associated morbidity and mortality are described. RECENT FINDINGS: Recent advances have led to a change in the way these disorders are classified. Personality disorders are now understood to be heritable and biologically based. Neurobiological, metabolic, and brain structural differences exist in individuals with these disorders. Historically, personality disorders, or Axis II disorders, have been seen as distinct from the more biological Axis I disorders. This multiaxial diagnostic structure has now been abandoned, eliminating the artificial partitioning off of personality disorders. SUMMARY: In this article, the epidemiology, etiology, classification, and treatment of the various personality disorders are reviewed. Emphasis is placed on the need for compassion when working with patients with personality disorders and an understanding that the nature of these disorders engenders interpersonal conflict. Although the bulk of available research focuses on borderline personality disorder, significant findings related to a variety of personality disorders are presented.


Assuntos
Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/epidemiologia , Transtornos da Personalidade/terapia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Personalidade/classificação , Escalas de Graduação Psiquiátrica , Adulto Jovem
11.
Pharmacogenomics ; 16(5): 433-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25916515

RESUMO

Given variable response to psychotropic intervention, this case highlights the potential of pharmacogenomics to inform medical decision-making in a male with atypical psychosis and depression with longer-standing attentional difficulties. Likely because of his specific COMT polymorphism and intermediate metabolizing liver enzymes, when the patient's stimulant medications were titrated to affect for attentional needs, he became psychotic secondary to a hyperdopaminergic state. Past prescriptions of dopaminergic antidepressant agents (e.g., bupropion) likely would have exacerbated further the problem. The patient's serotonin transporter polymorphism also potentially was associated with SSRI inefficacy and increased side effects. Knowledge of the patient's genetically influenced departure from average response allowed for personalization of pharmacology with clinical improvement across measures of functioning.


Assuntos
Transtornos Mentais/tratamento farmacológico , Transtornos Mentais/genética , Farmacogenética/tendências , Medicina de Precisão/tendências , Adulto , Transtornos de Ansiedade/tratamento farmacológico , Transtornos de Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno Depressivo Maior/tratamento farmacológico , Transtorno Depressivo Maior/psicologia , Feminino , Humanos , Polimorfismo de Nucleotídeo Único/genética , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/genética , Transtornos Psicóticos/psicologia , Resultado do Tratamento
12.
Qual Manag Health Care ; 19(1): 70-81, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20042935

RESUMO

Outcomes assessment has become an important tool in assessing the quality of health care. To date, most quality initiatives have focused on adverse events, clinical processes, and/or cost variables. Considerably less attention has been paid to indices of clinical improvement, especially from a patient's perspective and in behavioral health settings. The relative inattention given to clinical improvement is attributable to a number of reasons, including (but not limited to) a lack of consensus regarding measures of improvement, few simple methods for data collection and analysis, and an inability to provide timely feedback. In this article, the authors describe a Web-based system designed to routinely collect quality-of-life ratings from patients in outpatient behavioral health clinics, allowing for real-time feedback at the patient levels regarding clinical improvement. The system also allows for administrative evaluation of overall clinic performance. The costs and benefits of this system are discussed.


Assuntos
Medicina do Comportamento , Avaliação de Resultados em Cuidados de Saúde/métodos , Qualidade de Vida , Feminino , Humanos , Internet , Masculino , Garantia da Qualidade dos Cuidados de Saúde , Estados Unidos
13.
J Behav Med ; 32(4): 360-70, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19280332

RESUMO

While stimulus intensity obviously affects degree of pain responding, presentation order effects of stimuli of different intensities on acute pain responses are under-researched. The present study examined the effects of manipulating presentation order of lower and higher pain stimulus intensity. Using 96 undergraduates, this investigation employed a 2 x 2 mixed research design, with pain stimulus sequence as a between-subjects variable and pain stimulus trial as a repeated measure. When the greater pain stimulus intensity was presented last, verbal report of pain was higher. Also, performance of a cognitive task was interrupted the least when the lower stimulus intensity was presented last. Heart rate, however, was highest when the greater stimulus intensity was presented first, and pain tolerance was greatest when the lower stimulus intensity was presented first. Results are discussed in relation to adaptation-level effects, and implications for pain experienced in clinical settings are suggested.


Assuntos
Dor/psicologia , Análise de Variância , Cognição , Feminino , Mãos , Frequência Cardíaca , Humanos , Masculino , Testes Neuropsicológicos , Medição da Dor , Estimulação Física , Caracteres Sexuais , Fatores de Tempo , Percepção do Tato , Adulto Jovem
14.
Violence Vict ; 23(4): 508-24, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18788341

RESUMO

This article describes the development and factor structure of the Revised Safe At Home instrument, a 35-item self-report measure designed to assess individuals' readiness to change their intimate partner violence behaviors. Seven new items have been added, representing content specific to the Maintenance stage, and other items have been revised to strengthen the assessment of earlier stages and address gender concerns. Confirmatory factor analysis using multisite data (two sites, a total of 281 men at intake) supported the conclusion that a four-factor model (Precontemplation, Contemplation, Preparation/Action, and Maintenance stages) was consistent with the observed covariances. A high degree of correlation between the Preparation/Action and Maintenance scales was observed, but subsequent testing indicated a need to treat the two as distinct factors in the model. It is recommended that scoring include only 31 items that perform well.


Assuntos
Atitude Frente a Saúde , Inventário de Personalidade/normas , Maus-Tratos Conjugais/reabilitação , Inquéritos e Questionários/normas , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Psicológicos , Cooperação do Paciente/psicologia , Reprodutibilidade dos Testes , Desejabilidade Social , Maus-Tratos Conjugais/psicologia
16.
J Healthc Qual ; 29(4): 46-55, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17849680

RESUMO

The use of institutional measures of control such as seclusion and restraint within psychiatric hospitals is common and arguably countertherapeutic; however, little is known about how best to reduce the use of these measures. The development and implementation of new institutional strategies to reduce the use of seclusion and restraint are important. Although traditional performance improvement (PI) project methodology might seem well-suited to helping managers and administrators identify effective hospital-wide interventions to decrease seclusion and restraint rates, the Logic of the standard PI model precludes managers from making valid inferences about which interventions actually cause change. This article presents a model (derivative of the multiple baseline time-series design with randomization) for testing individual elements of a Large-scale PI project to reduce the use of seclusion and restraint in a behavioral healthcare organization. The proposed model is flexible, accommodates overlapping organizational initiatives, and simultaneously allows for meaningful inferences to be made about the active components of the interventions. The ability to make meaningful inferences is important because, if the initiatives to reduce seclusion and restraint rates work, other healthcare organizations would benefit from knowing Key Words which specific interventions actually Lead engagement model to change and which interventions have multiple baseline design Little impact on secLusion and restraint performance improvement rates. Early experiences with this model psychiatry from a hospital manager's perspective sanctuary trauma are discussed, along with the costs and benefits of using it.


Assuntos
Estudos de Avaliação como Assunto , Hospitais Psiquiátricos , Isolamento de Pacientes/estatística & dados numéricos , Restrição Física/estatística & dados numéricos , Humanos , Modelos Teóricos , Estados Unidos
17.
Psychiatr Serv ; 56(3): 350-2, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15746512

RESUMO

Previous research indicates that most homeless persons with mental illness prefer independent living, while most clinicians recommend group housing. This study compared residential preferences of 141 homeless veterans with dual diagnoses with those of 62 homeless nonveterans with dual diagnoses. Clinicians rated both groups while they were in transitional shelters before they were placed in housing. Both samples strongly rejected group home living, but a majority of nonveterans desired staff support. Clinicians recommended staffed group homes for most veterans and nonveterans. This survey underscores the disjuncture between consumers' and clinicians' preferences as well as the need to provide a range of housing options to accommodate varied preferences.


Assuntos
Comportamento de Escolha , Habitação , Pessoas Mal Alojadas/psicologia , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Veteranos/psicologia , Adulto , Comorbidade , Diagnóstico Duplo (Psiquiatria) , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Relacionados ao Uso de Substâncias/diagnóstico
18.
Pharmacogenetics ; 14(11): 741-7, 2004 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15564881

RESUMO

The alpha subunit of the heterotrimeric G protein Gs (Gsalpha) is involved in numerous physiological processes and is a primary determinant of cellular responses to extracellular signals. Genetic variations in the Gsalpha gene may play an important role in complex diseases and drug responses. To characterize the genetic diversity in this locus, we resequenced exons and flanking introns of the gene in 44 genomic samples and analysed the haplotype structure of the gene in an additional 50 African-Americans and 50 Caucasians. Significant differences in allele frequency for nearly all the genotyped single nucleotide polymorphism (SNPs) were detected between the two ethnic groups. Linkage disequilibrium (LD) analysis of this locus revealed two haplotype blocks characterized by strong LD and reduced haplotype diversity, especially in Caucasians. Between the two blocks is a narrow (approximately 3 kb) recombination hotspot centred on exons 4 and 5, and a widely used genetic marker in association studies in this region (rs7121) was in linkage equilibrium with the rest of the gene. The haplotype structure of the GNAS locus warrants reevaluation of previous association studies that used marker rs7121 and affects choice of SNP markers to be used in future studies of this locus.


Assuntos
Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Haplótipos , Polimorfismo de Nucleotídeo Único , Recombinação Genética , População Branca/genética , Negro ou Afro-Americano/genética , Sequência de Bases , Cromograninas , DNA/genética , Humanos , Desequilíbrio de Ligação , Dados de Sequência Molecular , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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