Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 64.952
Filtrar
1.
Psychiatr Danub ; 32(1): 84-91, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32303037

RESUMEN

BACKGROUND: Symptomatic remission is an achievable goal in the treatment of schizophrenia. The type of antipsychotic medication and particular genetic variants of the dopaminergic system might be associated with remission. Potential pharmacogenetic markers of the treatment response to antipsychotic medication are missing. This study assessed the possible association between dopamine receptor type 2 (DRD2 rs1800497) and dopamine transporter (DAT1 rs28363170) gene variants with symptomatic remission in schizophrenia. SUBJECTS AND METHODS: Olanzapine (5-20 mg/d) monotherapy was administered for 6 months to 150 male Caucasian subjects with schizophrenia. Remission was evaluated according to "Remission in Schizophrenia Working Group" criteria. Genotyping was performed by PCR-RFLP. RESULTS: Symptomatic remission was found in 31% of patients. DRD2 rs1800497 and DAT1 rs28363170 gene variants were not significantly associated with symptomatic remission. The limitations are a relatively small sample size of patients with schizophrenia (N=150), especially of group with symptomatic remission (N=45). However, the study had moderate but adequate sample sizes for most of the comparisons. Only two dopaminergic polymorphisms were analyzed, and plasma concentration of olanzapine was not determined. CONCLUSION: These results revealed a lack of association between DRD2 rs1800497 and DAT1 rs28363170 genetic variants and symptomatic remission in male patients treated with olanzapine, suggesting that these genetic variants could not be used to predict symptomatic remission to olanzapine monotherapy. Negative results should be further confirmed or rejected in the larger samples, including haplotype analyses, to detect clinically useful and easy obtainable pharmacogenetic markers that might predict therapeutic response or remission in schizophrenia.


Asunto(s)
Antipsicóticos/uso terapéutico , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Mutación , Olanzapina/administración & dosificación , Olanzapina/uso terapéutico , Receptores de Dopamina D2/genética , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/genética , Adulto , Antipsicóticos/administración & dosificación , Grupo de Ascendencia Continental Europea/genética , Humanos , Masculino , Persona de Mediana Edad , Factores de Tiempo , Resultado del Tratamiento
2.
Am Surg ; 86(3): 213-219, 2020 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-32223800

RESUMEN

Grady Memorial Hospital is a pillar of public medical and surgical care in the Southeast. The evolution of this institution, both in its physical structure as well as its approach to patient care, mirrors the cultural and social changes that have occurred in the American South. Grady Memorial Hospital opened its doors in 1892 built in the heart of Atlanta's black community. With its separate and unequal facilities and services for black and white patients, the concept of "the Gradies" was born. Virtually, every aspect of care at Grady continued to be segregated by race until the mid-20th century. In 1958, the opening of the "New Grady" further cemented this legacy of the separate "Gradies," with patients segregated by hospital wing. By the 1960s, civil rights activists brought change to Atlanta. The Atlanta Student Movement, with the support of Dr. Martin Luther King Jr., led protests outside of Grady, and a series of judicial and legislative rulings integrated medical boards and public hospitals. Eventually, the desegregation of Grady occurred with a quiet memo that belied years of struggle: on June 1, 1965, a memo from hospital superintendent Bill Pinkston read "All phases of the hospital are on a non-racial basis, effective today." The future of Grady is deeply rooted in its past, and Grady's mission is unchanged from its inception in 1892: "It will nurse the poor and rich alike and will be an asylum for black and white."


Asunto(s)
Derechos Civiles/historia , Desegregación/historia , Desegregación/legislación & jurisprudencia , Afroamericanos/estadística & datos numéricos , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Georgia , Hispanoamericanos/estadística & datos numéricos , Historia del Siglo XX , Hospitales Públicos/historia , Humanos
4.
BMC Med Genet ; 21(1): 63, 2020 03 30.
Artículo en Inglés | MEDLINE | ID: mdl-32228609

RESUMEN

BACKGROUND: Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (- 1082 G/A, - 819 C/T, - 592C/A) and IL-6 -174 G/C polymorphisms have a great relationship with IL-10 and IL-6 production, which brings about Brucellosis pathogenesis and development. So far, the results of published literatures were controversial. Now, we perform a meta-analysis in different ethnic populations to get a more precise estimate of above polymorphisms with Brucellosis susceptibility. METHODS: Both OR and corresponding 95%CI were enrolled to make an assessment of the association strength through extracting genotyping frequency of cases and controls. The χ2-test based Q-statistic and I2 statistics were applied. If there was no evident heterogeneity, the fixed-effects model would be applied. If not, the random-effects model would be used. RESULTS: The significant associations were only found in Asian population of - 819 loci under three genetic models as follows: (Allele model: OR = 0.60, 95%CI = 0.44-0.82, P = 0.001), (homozygote comparison: OR = 0.24, 95%CI = 0.09-0.62, P = 0.003), (recessive genetic model: OR = 0.22, 95%CI = 0.05-0.91, P = 0.036). CONCLUSION: In conclusion, IL-10 - 819 loci polymorphism contributes no risk to Caucasian population but may be associated with decreased risk in Asian population. And IL-10 -1082 G/A, 592 loci and IL-6 -174 G/C polymorphism are not associated with Brucellosis risk.


Asunto(s)
Brucelosis/genética , Interleucina-10/genética , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Alelos , Grupo de Ascendencia Continental Asiática/genética , Grupo de Ascendencia Continental Asiática/estadística & datos numéricos , Brucelosis/etnología , Estudios de Casos y Controles , Grupos Étnicos/genética , Grupo de Ascendencia Continental Europea/genética , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Factores de Riesgo
5.
BMC Med Genet ; 21(1): 71, 2020 04 06.
Artículo en Inglés | MEDLINE | ID: mdl-32252656

RESUMEN

BACKGROUND: Herein, we collected currently published data to comprehensively evaluate the impact of the FCGR2A (Fc fragment of IgG receptor IIa) rs1801274 and MUC5B (mucin 5B, oligomeric mucus/gel-forming) rs35705950 variations on susceptibility to pneumonia diseases. METHODS: We retrieved case-control studies from three online databases and applied the statistical approach of meta-analysis for a series of pooling analyses. RESULTS: A total of fourteen case-control studies were included for FCGR2A rs1801274; while thirty-one case-control studies were included for MUC5B rs35705950. No significant difference between pneumonia cases and controls for FCGR2A rs1801274 was found. However, MUC5B rs35705950 was significantly associated with pneumonia susceptibility in the whole population under the genetic models of allelic T vs. G [OR (odds ratio) =3.78], carrier T vs. G (OR = 3.31), TT vs. GG (OR = 13.66), GT vs. GG (OR = 4.78), GT + TT vs. GG (OR = 5.05), and TT vs. GG + GT (OR = 6.47) (all P < 0.001, Bonferroni-adjusted P < 0.006; false discovery rate-adjusted P < 0.0010). Furthermore, we observed a similar positive result for subgroup analyses of "Caucasian", "Asian", "population-based control", and "idiopathic pulmonary fibrosis". CONCLUSIONS: MUC5B rs35705950, but not FCGR2A rs1801274, increases susceptibility to clinical pneumonia, especially to idiopathic pulmonary fibrosis, in both the Caucasian and Asian populations.


Asunto(s)
Mucina 5B/genética , Neumonía/genética , Polimorfismo de Nucleótido Simple , Receptores de IgG/genética , Alelos , Grupo de Ascendencia Continental Asiática/genética , Grupo de Ascendencia Continental Asiática/estadística & datos numéricos , Estudios de Casos y Controles , Grupo de Ascendencia Continental Europea/genética , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Fibrosis Pulmonar Idiopática/epidemiología , Fibrosis Pulmonar Idiopática/genética , Neumonía/epidemiología
6.
Med Sci Monit ; 26: e920711, 2020 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-32148334

RESUMEN

BACKGROUND The suicide risk of patients with cancer is higher than the general population. Our research aimed to explore the Surveillance, Epidemiology, and End Results (SEER) database to define incidence and quest risk factors for death of suicide in patients with Kaposi's sarcoma (KS) in the United States (US). MATERIAL AND METHODS We screened KS patients without human immunodeficiency virus status in the SEER database from 1980 to 2016, calculated the standardized mortality ratios of them by comparing the rates with those of the US general population from 1980 to 2016, and identified relevant suicide risk factors by univariable and multivariable logistic regression analyses. RESULTS The suicide rates of KS patients and US general population were 115.31 (110 suicides among 21 405 patients) and 15.1 per 100 000 person-years, respectively, thus the standardized mortality ratio was 7.64 (95% confidence interval [CI], 6.28-9.21). The multivariate analysis showed that black race (versus white race, hazard ratio [HR]: 0.43, 95% CI: 0.21-0.89, P=0.022), advanced age at diagnosis (≥55 years versus 18-44 years, HR: 0.31, 95% CI: 0.14-0.66, P=0.002), and chemotherapy (versus no chemotherapy, HR: 0.60, 95% CI: 0.37-0.96, P=0.032) were protective factors for suicide among KS patients. CONCLUSIONS Clinicians and caregivers can apply our findings to identify KS patients with high suicide risk characteristics (white race, age of 18-44 years, non-chemotherapy) and exert timely interventions during patient diagnosis, treatment, and follow-up to reduce the suicide rate in this population.


Asunto(s)
Sarcoma de Kaposi/psicología , Suicidio , Adolescente , Adulto , Factores de Edad , Grupo de Ascendencia Continental Europea , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Factores de Riesgo , Programa de VERF , Sarcoma de Kaposi/tratamiento farmacológico , Estados Unidos , Adulto Joven
8.
Medicine (Baltimore) ; 99(13): e19482, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32221071

RESUMEN

BACKGROUND: Insulin dependent diabetes mellitus (IDDM) is a kind of heterogeneous disease caused by the interaction of polygene inheritance and environmental factors. The LMP2 and LMP7 are 2 loci in LMP gene, and although genetic association between LMP2 and LMP7 polymorphisms were reported, the results are inconclusive. The aim of this study was to investigate the association between LMP2 and LMP7 polymorphisms and IDDM risk. METHODS: An exhaustive search was performed out through the electronic databases including PubMed, Embase, and Chinese National Knowledge Infrastructure (CNKI). The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength association between LMP2 CfoI and LMP7 G37360T polymorphisms and IDDM risk. RESULTS: A total of 7 studies with 707 cases and 821 controls were included in the present study. The results indicated that the dominant model of LMP2 CfoI was significantly associated with IDDM in Asian population (OR = 1.96, 95% CI: 1.24-3.10, P = .004). In addition, the allelic and dominant models of LMP7 G37360T were associated with IDDM in Caucasian population (allelic model: OR = 0.69, 95% CI: 0.56-0.85, P = .0005; dominant model: OR = 0.67, 95% CI: 0.50-0.89, P = .007). CONCLUSIONS: The dominant model of LMP2 CfoI might be a risk factor for IDDM in Asian population. Whereas, the allelic and dominant models of LMP7 G37360T might be protective factors for IDDM in Caucasian population.


Asunto(s)
Cisteína Endopeptidasas/genética , Diabetes Mellitus Tipo 1/genética , Complejo de la Endopetidasa Proteasomal/genética , Adolescente , Adulto , Factores de Edad , Alelos , Grupo de Ascendencia Continental Asiática , Niño , Grupos Étnicos , Grupo de Ascendencia Continental Europea , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Polimorfismo Genético , Factores Sexuales , Adulto Joven
9.
Am J Hum Genet ; 106(4): 496-512, 2020 04 02.
Artículo en Inglés | MEDLINE | ID: mdl-32220292

RESUMEN

Most existing expression quantitative trait locus (eQTL) mapping studies have been focused on individuals of European ancestry and are underrepresented in other populations including populations with African ancestry. Lack of large-scale well-powered eQTL mapping studies in populations with African ancestry can both impede the dissemination of eQTL mapping results that would otherwise benefit individuals with African ancestry and hinder the comparable analysis for understanding how gene regulation is shaped through evolution. We fill this critical knowledge gap by performing a large-scale in-depth eQTL mapping study on 1,032 African Americans (AA) and 801 European Americans (EA) in the GENOA cohort. We identified a total of 354,931 eSNPs in AA and 371,309 eSNPs in EA, with 112,316 eSNPs overlapped between the two. We found that eQTL harboring genes (eGenes) are enriched in metabolic pathways and tend to have higher SNP heritability compared to non-eGenes. We found that eGenes that are common in the two populations tend to be less conserved than eGenes that are unique to one population, which are less conserved than non-eGenes. Through conditional analysis, we found that eGenes in AA tend to harbor more independent eQTLs than eGenes in EA, suggesting potentially diverse genetic architecture underlying expression variation in the two populations. Finally, the large sample sizes in GENOA allow us to construct accurate expression prediction models in both AA and EA, facilitating powerful transcriptome-wide association studies. Overall, our results represent an important step toward revealing the genetic architecture underlying expression variation in African Americans.


Asunto(s)
Afroamericanos/genética , Grupo de Ascendencia Continental Europea/genética , Regulación de la Expresión Génica/genética , Sitios de Carácter Cuantitativo/genética , Mapeo Cromosómico/métodos , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo/métodos , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genética , Transcriptoma/genética
10.
Ann Rheum Dis ; 79(4): 536-544, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32114511

RESUMEN

OBJECTIVE: Gout is characterised by severe interleukin (IL)-1-mediated joint inflammation induced by monosodium urate crystals. Since IL-37 is a pivotal anti-inflammatory cytokine suppressing the activity of IL-1, we conducted genetic and functional studies aimed at elucidating the role of IL-37 in the pathogenesis and treatment of gout. METHODS: Variant identification was performed by DNA sequencing of all coding bases of IL37 using molecular inversion probe-based resequencing (discovery cohort: gout n=675, controls n=520) and TaqMan genotyping (validation cohort: gout n=2202, controls n=2295). Predictive modelling of the effects of rare variants on protein structure was followed by in vitro experiments evaluating the impact on protein function. Treatment with recombinant IL-37 was evaluated in vitro and in vivo in a mouse model of gout. RESULTS: We identified four rare variants in IL37 in six of the discovery gout patients; p.(A144P), p.(G174Dfs*16), p.(C181*) and p.(N182S), whereas none emerged in healthy controls (Fisher's exact p-value=0.043). All variants clustered in the functional domain of IL-37 in exon 5 (p-value=5.71×10-5). Predictive modelling and functional studies confirmed loss of anti-inflammatory functions and we substantiated the therapeutic potential of recombinant IL-37 in the treatment of gouty inflammation. Furthermore, the carrier status of p.(N182S)(rs752113534) was associated with increased risk (OR=1.81, p-value=0.031) of developing gout in hyperuricaemic individuals of Polynesian ancestry. CONCLUSION: Here, we provide genetic as well as mechanistic evidence for the role of IL-37 in the pathogenesis of gout, and highlight the therapeutic potential of recombinant IL-37 for the treatment of gouty arthritis.


Asunto(s)
Gota/genética , Interleucina-1/genética , Adulto , Anciano , Anciano de 80 o más Años , Animales , Estudios de Casos y Controles , Grupo de Ascendencia Continental Europea/genética , Femenino , Predisposición Genética a la Enfermedad , Gota/inmunología , Humanos , Técnicas In Vitro , Interleucina-1/inmunología , Interleucina-1/farmacología , Interleucina-1beta/efectos de los fármacos , Interleucina-1beta/inmunología , Interleucina-6/inmunología , Interleucina-8/efectos de los fármacos , Interleucina-8/inmunología , Leucocitos Mononucleares/efectos de los fármacos , Leucocitos Mononucleares/inmunología , Masculino , Ratones , Persona de Mediana Edad , Neutrófilos/efectos de los fármacos , Neutrófilos/inmunología , Grupo de Ascendencia Oceánica/genética , Polimorfismo Genético , Proteínas Recombinantes/farmacología , Ácido Úrico/inmunología , Ácido Úrico/farmacología
11.
Hum Genet ; 139(5): 557-568, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32076829

RESUMEN

We provide a Kazakh whole genome sequence (MJS) and analyses with the largest comparative Kazakh genomic data available to date. We found 102,240 novel SNVs and a high level of heterozygosity. ADMIXTURE analysis confirmed a significant proportion of variations in this individual coming from all continents except Africa and Oceania. A principal component analysis showed neighboring Kalmyk, Uzbek, and Kyrgyz populations to have the strongest resemblance to the MJS genome which reflects fairly recent Kazakh history. MJS's mitochondrial haplogroup, J1c2, probably represents an early European and Near Eastern influence to Central Asia. This was also supported by the heterozygous SNPs associated with European phenotypic features and strikingly similar Kazakh ancestral composition inferred by ADMIXTURE. Admixture (f3) analysis showed that MJS's genomic signature is best described as a cross between the Neolithic East Asian (Devil's Gate1) and the Bronze Age European (Halberstadt_LBA1) components rather than a contemporary admixture.


Asunto(s)
Grupos Étnicos/genética , Grupo de Ascendencia Continental Europea/genética , Genética de Población , Genoma Humano , Polimorfismo de Nucleótido Simple , China , ADN Mitocondrial , Femenino , Humanos , Kazajstán , Análisis de Componente Principal
12.
Medicine (Baltimore) ; 99(6): e18820, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32028392

RESUMEN

Cross-sectional studies indicate that the fat mass and obesity-associated (FTO) rs9939609 gene variant is associated with metabolic syndrome (MetS) primarily in European ancestry. However, the association is not fully elucidated in African Americans.We hypothesized that rs9939609 (AT = moderate-risk carriers or AA = high-risk carriers compared to TT = low-risk carriers) is associated with MetS and its component risk factors over time; and that its association is ancestry-specific. A secondary hypothesis was that higher levels of physical activity can decrease the deleterious effect of rs9939609 at higher body mass index (BMI).Atherosclerosis Risk in Communities study repeated measures data from 4 visits (1987-1998) were obtained from the database of Genotypes and Phenotypes for 10,358 participants (8170 Whites and 2188 African Americans) aged 45 to 64 years at baseline. Guidelines for elevated blood pressure by the American College of Cardiology and American Heart Association Task Force were updated within the MetS criteria. Risk ratios (RR) and 95% confidence intervals from generalized estimating equations assessed population-average risks.MetS was present among 3479 (42.6%) Whites and 1098 (50.2%) African Americans at baseline, and 50.3% Whites and 57% African Americans over 11-years of follow-up. Among MetS component risk factors, high waist circumference was most prevalent among White AT (RR = 1.07; 1.06-1.09) and AA (RR = 1.12; 1.10-1.14) higher-risk carriers. High triglycerides were elevated among African American AA high-risk carriers (RR = 1.11; 1.02-1.21) compared to TT low-risk carriers. Over time, White AT-and AA higher-risk carriers had 1.07 and 1.08-fold increase (P < .0001) in MetS risk. Physical activity had independent protective effects on MetS among both races (P < .05). White AA high-risk carriers with normal BMI and low vs high physical activity had higher MetS risk (RR = 1.69; 1.25-2.30 and RR = 0.68;0.53-0.87, respectively). In rs9939609 × BMI× physical activity interaction, White A-allele high-risk carriers had lower MetS risk (RR = 0.68; 0.53-0.87). Among Whites, physical activity can lessen the effect of rs9939609 and high BMI on risk for MetS.


Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Predisposición Genética a la Enfermedad , Síndrome Metabólico/genética , Afroamericanos , Anciano , Índice de Masa Corporal , Bases de Datos Factuales , Grupo de Ascendencia Continental Europea , Femenino , Humanos , Estudios Longitudinales , Masculino , Síndrome Metabólico/etiología , Persona de Mediana Edad , Obesidad , Factores de Riesgo , Estados Unidos
13.
Can Assoc Radiol J ; 71(2): 208-216, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32062999

RESUMEN

PURPOSE: To identify computed tomography (CT) features of epidermal growth factor receptor (EGFR) mutation-positive lung adenocarcinoma in Canadian population and whether imaging-based surrogate markers of EGFR mutation in our population were similar to those found in the Asian population. MATERIALS AND METHODS: Pretreatment CT scans of 223 patients with adenocarcinoma of the lung (112 with EGFR mutation and 111 without mutation) were retrospectively assessed for 20 specific CT features by 2 radiologists, who were blinded to the status of EGFR mutation. Univariate and multivariate logistic regression analyses as well as areas under the receiver operating characteristic curve were performed to discriminate characteristics of EGFR-activating mutation features. RESULTS: Epidermal growth factor receptor mutation-positive adenocarcinomas were more frequently found in female (P < .03), less than 20 pack-year smoking history (P < .001), smaller tumor (P < .01), spiculated margins (P < .05), without centrilobular emphysema (P < .001), and without lymphadenopathy (P < .05), similarly to the Asian population. Multivariate logistic regression analyses of combined clinical and radiological features identified less than 20 pack-year smoking history, smaller tumor diameter, fine or coarse spiculations, noncentral location of the tumor, and lack of centrilobular emphysema and pleural attachment as the strongest independent prognostic factors for the presence of an EGFR mutation. These combined features improved prognostic ability area under the curve to 0.879, compared to 0.788 for clinical features only. CONCLUSION: Several CT findings may help predict the presence of an activating mutation in EGFR in lung adenocarcinomas in our Canadian population. Combining clinical and radiological features improves prognostic ability to determine the EGFR mutation status compared to clinical features alone.


Asunto(s)
Adenocarcinoma del Pulmón/diagnóstico por imagen , Adenocarcinoma del Pulmón/genética , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/genética , Adenocarcinoma del Pulmón/patología , Anciano , Área Bajo la Curva , Grupo de Ascendencia Continental Asiática , Biomarcadores de Tumor/genética , Canadá/etnología , Receptores ErbB/genética , Grupo de Ascendencia Continental Europea , Femenino , Humanos , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Tomografía Computarizada Multidetector , Mutación , Pronóstico , Enfisema Pulmonar/diagnóstico por imagen , Curva ROC , Estudios Retrospectivos , Método Simple Ciego , Fumar , Carga Tumoral
14.
BMC Infect Dis ; 20(1): 146, 2020 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-32066397

RESUMEN

BACKGROUND: Age is a risk factor for infective endocarditis, and almost half of diagnosed patients are age ≥ 60 years. Large national studies have not evaluated inpatient mortality and surgical valvular interventions between older White and Black patients hospitalized with infective endocarditis. METHODS: We used the Nationwide Inpatient Sample database to identify older adults ≥60 years in North America with a principle diagnosis of infective endocarditis. Multivariate logistic regression was used to compare in-hospital mortality and valvular repairs/replacement between older Black and White patients. RESULTS: Of 10,390 adults, age ≥ 60 years hospitalized for infective endocarditis during 2013 and 2014, 7356 were White and 1089 Black. Blacks were younger (mean age: 70.5 ± 0.5 vs. 73.5 ± 0.2 years, p < 0.01), lived in more zip codes with a median annual income <$39,000/yr. (40.4% vs 18.8%, p < 0.01), and had higher co-morbidity burden (Charlson comorbidity score ≥ 3: 54.6% vs 40.7%, p < 0.01). After multivariate adjustment, Blacks had higher odds for in-hospital mortality (Odds Ratio (OR) = 2.0, [Confidence Interval (CI) 1.1-3.8]; p = 0.020), and lower odds for mitral valve repairs/replacements (OR = 0.53, CI: 0.29-0.99, p = 0.049). CONCLUSIONS: Blacks age ≥ 60 years hospitalized in North America with infective endocarditis are less likely to undergo mitral valvular repairs/replacement and had higher in-hospital mortality compared to White patients.


Asunto(s)
Endocarditis/etnología , Afroamericanos , Anciano , Anuloplastia de la Válvula Cardíaca , Bases de Datos Factuales , Endocarditis/mortalidad , Endocarditis/cirugía , Grupo de Ascendencia Continental Europea , Femenino , Mortalidad Hospitalaria , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , América del Norte/epidemiología , América del Norte/etnología , Factores Raciales , Factores de Riesgo
15.
Clin Chim Acta ; 505: 1-5, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32070726

RESUMEN

BACKGROUND: The secretor type α(1,2)fucosyltransferase gene (FUT2) is known to be rich in population-specific polymorphisms. However, genetic variations of FUT2 have not been well examined in Latin American populations in which nonsecretors are rare. METHODS: Conventional polymerase chain reactions and direct sequencing were performed to detect single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) of FUT2 in Mexicans including Americans of Mexican ancestry, Puerto Ricans, Caribbeans, and Colombians. FUT2 alleles were determined by cloning into plasmids or PHASE software. The impact of uncharacterized missense SNPs on the enzyme activity were examined by transient transfection assays and estimated by several software programs. RESULTS: Three alleles, Se357, Se, and se428, were common, and the frequency of nonsecretors was relatively low in the studied populations. We also encountered several alleles specific to Africans, Europeans, and South and East Asians including a South Asian-specific sedel. In contrast to the in silico prediction, a transient expression study suggested that both of two missense SNPs, 235G > A and 304G > A, did not impair the enzyme activity. CONCLUSIONS: The allelic polymorphism of FUT2 suggests that the modern Latin American populations were formed via genetic admixture among Native Americans and populations whose ancestors migrated from other continents. In this study, we have observed a discrepancy between in silico and functional analyses for FUT2 for the first time. Therefore, experimental functional analysis is required for evaluation of SNPs of FUT2.


Asunto(s)
Fucosiltransferasas/genética , Alelos , Grupo de Ascendencia Continental Asiática , Simulación por Computador , Variaciones en el Número de Copia de ADN , Grupo de Ascendencia Continental Europea , Fucosiltransferasas/análisis , Expresión Génica , Frecuencia de los Genes , Humanos , Indios Sudamericanos , América Latina/epidemiología , Mutación Missense/genética , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo de Nucleótido Simple
16.
PLoS Genet ; 16(2): e1008641, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-32059012

RESUMEN

Men of predominantly African Ancestry (AA) have higher prostate cancer (CaP) incidence and worse survival than men of predominantly European Ancestry (EA). While socioeconomic factors drive this disparity, genomic factors may also contribute to differences in the incidence and mortality rates. To compare the prevalence of prostate tumor genomic alterations and transcriptomic profiles by patient genetic ancestry, we evaluated genomic profiles from The Cancer Genome Atlas (TCGA) CaP cohort (n = 498). Patient global and local genetic ancestry were estimated by computational algorithms using genotyping data; 414 (83.1%) were EA, 61 (12.2%) were AA, 11 (2.2%) were East Asian Ancestry (EAA), 10 (2.0%) were Native American (NA), and 2 (0.4%) were other ancestry. Genetic ancestry was highly concordant with self-identified race/ethnicity. Subsequent analyses were limited to 61 AA and 414 EA cases. Significant differences were observed by ancestry in the frequency of SPOP mutations (20.3% AA vs. 10.0% EA; p = 5.6×10-03), TMPRSS2-ERG fusions (29.3% AA vs. 39.6% EA; p = 4.4×10-02), and PTEN deletions/losses (11.5% AA vs. 30.2% EA; p = 3.5×10-03). Differentially expressed genes (DEGs) between AAs and EAs showed significant enrichment for prostate eQTL target genes (p = 8.09×10-48). Enrichment of highly expressed DEGs for immune-related pathways was observed in AAs, and for PTEN/PI3K signaling in EAs. Nearly one-third of DEGs (31.3%) were long non-coding RNAs (DE-lncRNAs). The proportion of DE-lncRNAs with higher expression in AAs greatly exceeded that with lower expression in AAs (p = 1.2×10-125). Both ChIP-seq and RNA-seq data suggested a stronger regulatory role for AR signaling pathways in DE-lncRNAs vs. non-DE-lncRNAs. CaP-related oncogenic lncRNAs, such as PVT1, PCAT1 and PCAT10/CTBP1-AS, were found to be more highly expressed in AAs. We report substantial heterogeneity in the prostate tumor genome and transcriptome between EA and AA. These differences may be biological contributors to racial disparities in CaP incidence and outcomes.


Asunto(s)
Afroamericanos/genética , Biomarcadores de Tumor/genética , Grupo de Ascendencia Continental Europea/genética , Disparidades en el Estado de Salud , Neoplasias de la Próstata/genética , Biomarcadores de Tumor/metabolismo , Secuenciación de Inmunoprecipitación de Cromatina , Estudios de Cohortes , Regulación Neoplásica de la Expresión Génica , Genoma Humano/genética , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Mutación , Proteínas Nucleares/genética , Proteínas de Fusión Oncogénica/genética , Fosfohidrolasa PTEN/genética , Neoplasias de la Próstata/epidemiología , ARN Largo no Codificante/metabolismo , RNA-Seq , Receptores Androgénicos/genética , Proteínas Represoras/genética , Transcriptoma/genética
17.
Pediatrics ; 145(3)2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-32060140

RESUMEN

BACKGROUND: Hepatitis C virus (HCV) prevalence doubled among pregnant women from 2009 to 2014, reaching 3.4 per 1000 births nationwide. Infants exposed to HCV may acquire HCV by vertical transmission. National guidelines recommend that infants exposed to HCV be tested; however, it is unclear if these recommendations are being followed. Our objectives were to determine if infants exposed to HCV were tested and to determine hospital- and patient-level factors associated with differences in testing. METHODS: In this retrospective cohort study of infants exposed to HCV who were enrolled in the Tennessee Medicaid program, we used vital statistics-linked administrative data for infants born between January 1, 2005, and December 31, 2014. Infants were followed until 2 years old. Multilevel logistic regression was used to assess the association of HCV testing and hospital- and patient-level characteristics. RESULTS: Only 23% of 4072 infants exposed to HCV were tested. Infants whose mothers were white versus African American (96.6% vs 3.1%; P <.001), used tobacco (78% vs 70%; P <.001), and had HIV (1.3% vs 0.4%; P = .002) were more likely to be tested. Infants exposed to HCV who had a higher median of well-child visits (7 vs 6; P <.001) were more likely to be tested. After accounting for maternal and infant characteristics and health care use patterns, African American infants were less likely to undergo general testing (adjusted odds ratio 0.32; 95% confidence interval, 0.13-0.78). CONCLUSIONS: Testing occurred in <1 in 4 infants exposed to HCV and less frequently among African American infants. Public health systems need to be bolstered to ensure that infants exposed to HCV are tested for seroconversion.


Asunto(s)
Hepatitis C/diagnóstico , Hepatitis C/transmisión , Transmisión Vertical de Enfermedad Infecciosa , Tamizaje Neonatal , Complicaciones Infecciosas del Embarazo/epidemiología , Adulto , Afroamericanos/estadística & datos numéricos , Preescolar , Estudios de Cohortes , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Femenino , Infecciones por VIH/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Intercambio Materno-Fetal , Medicaid , Visita a Consultorio Médico/estadística & datos numéricos , Embarazo , Estudios Retrospectivos , Fumar/epidemiología , Tennessee/epidemiología , Estados Unidos , Adulto Joven
18.
Am J Public Health ; 110(4): 530-536, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32078342

RESUMEN

Objectives. To assess causes of premature death and whether race/ethnicity or education is more strongly and independently associated with premature mortality in a diverse sample of middle-aged adults in the United States.Methods. The Coronary Artery Risk Development in Young Adults study (CARDIA) is a longitudinal cohort study of 5114 participants recruited in 1985 to 1986 and followed for up to 29 years, with rigorous ascertainment of all deaths; recruitment was balanced regarding sex, Black and White race/ethnicity, education level (high school or less vs. greater than high school), and age group (18-24 and 25-30 years). This analysis included all 349 deaths that had been fully reviewed through month 348. Our primary outcome was years of potential life lost (YPLL).Results. The age-adjusted mortality rate per 1000 persons was 45.17 among Black men, 25.20 among White men, 17.63 among Black women, and 10.10 among White women. Homicide and AIDS were associated with the most YPLL, but cancer and cardiovascular disease were the most common causes of death. In multivariable models, each level of education achieved was associated with 1.37 fewer YPLL (P = .007); race/ethnicity was not independently associated with YPLL.Conclusions. Lower education level was an independent predictor of greater YPLL.


Asunto(s)
Causas de Muerte , Escolaridad , Grupos Étnicos/estadística & datos numéricos , Mortalidad Prematura , Síndrome de Inmunodeficiencia Adquirida/mortalidad , Adulto , Afroamericanos/estadística & datos numéricos , Enfermedades Cardiovasculares/mortalidad , Estudios de Cohortes , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Femenino , Homicidio/estadística & datos numéricos , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Neoplasias/mortalidad , Estados Unidos/epidemiología , Población Urbana
19.
PLoS One ; 15(2): e0229002, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32059045

RESUMEN

BACKGROUND: Although protective associations between dietary antioxidants and pregnancy outcomes have been reported, randomized controlled trials of supplementation have been almost uniformly negative. A possible explanation is that supplementation during pregnancy may be too late to have a beneficial effect. Therefore, we examined the relationship between antioxidant levels prior to pregnancy and birth outcomes. METHODS AND FINDINGS: Serum carotenoids and tocopherols were assayed in fasting specimens at 1985-86 (baseline) and 1992-1993 (year 7) from 1,215 participants in Coronary Artery Risk Development in Young Adults (CARDIA) study. An interviewer-administered quantitative food-frequency questionnaire assessed dietary intake of antioxidants. Pregnancy outcome was self-reported at exams every 2 to 5 years. Linear and logistic regression modeling was used to assess relationships of low birthweight (LBW; <2,500 g), continuous infant birthweight, preterm birth (PTB; <37 weeks) and length of gestation with antioxidant levels adjusted for confounders, as well as interactions with age and race. RESULTS: In adjusted models, lycopene was associated with higher odds of LBW (adjusted odds ratio for top quartile, 2.15, 95% confidence interval 1.14, 3.92) and shorter gestational age (adjusted beta coefficient -0.50 weeks). Dietary intake of antioxidants was associated with lower birthweight, while supplement use of vitamin C was associated with higher gestational age (0.41 weeks, 0.01, 0.81). CONCLUSIONS: Higher preconception antioxidant levels are not associated with better birth outcomes.


Asunto(s)
Afroamericanos , Antioxidantes/metabolismo , Ácido Ascórbico/sangre , Carotenoides/sangre , Grupo de Ascendencia Continental Europea , Edad Gestacional , Nacimiento Prematuro/sangre , Adolescente , Adulto , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Embarazo , Adulto Joven
20.
N Z Med J ; 133(1509): 28-38, 2020 02 07.
Artículo en Inglés | MEDLINE | ID: mdl-32027636

RESUMEN

AIM: To determine the contribution of smoking-related deaths to the life expectancy gap in both Maori and Pacific people compared with non-Maori/non-Pacific people in New Zealand. METHODS: Death registration and population data between 2013 and 2015 were used to calculate life expectancy. To determine the contribution of smoking to the life expectancy gap, population attributable fractions for all causes of death where smoking is a casual risk factor were calculated using age- and ethnic-specific smoking data from the 2013 New Zealand Census and relative risk estimates from the American Cancer Society Cancer Prevention Study II. Population attributable fractions were applied to all deaths registered in New Zealand for the 2013-15 period to estimate the number of deaths attributable to tobacco smoking. The life expectancy gap was decomposed using the Arriaga method. The gap was decomposed both overall and by specific smoking attributable causes of death. RESULTS: Between 2013 and 2015 an estimated 12,421 (13.4% of all deaths) were attributable to smoking. Nearly one in four (22.6%) deaths among Maori were attributable to smoking (2,199 out of 9,717 deaths) and nearly one in seven (13.8%) among Pacific people (512 out of 3,720 deaths). Among non-Maori/non-Pacific people, one in eight (12.3%) deaths were attributable to smoking (9,710 out of 78,759 deaths). Higher rates of smoking attributable mortality were responsible for 2.1 years of the life expectancy gap in Maori men, 2.3 years in Maori women, 1.4 years in Pacific men and 0.3 years among Pacific women. Cancers of the trachea, bronchus and lung, chronic obstructive pulmonary disease (COPD) and ischaemic heart disease were the leading smoking attributable causes of death contributing to the gap. CONCLUSION: Smoking is an important preventable risk factor contributing to ethnic inequities in life expectancy for Maori men and women, and Pacific men. Dramatic declines in smoking-attributable deaths can be achieved by reducing smoking prevalence rates. Preventing smoking initiation and increasing cessation rates must remain a top priority for the Ministry of Health and District Health Boards. Smokefree initiatives should be reoriented to be Tiriti o Waitangi (Treaty of Waitangi) compliant and better meet the needs of Maori and Pacific people who smoke. Addressing the residual risk in ex-smokers through equitable early diagnosis and treatment of smoking-related conditions will further assist a more rapid closing of life expectancy gaps for Maori men and women and Pacific men. The next five years provide the opportunity to demonstrate commitment to achieving a smokefree Aotearoa for all: an aspiration, based on the current trajectory, which is most probably out of reach.


Asunto(s)
Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Disparidades en el Estado de Salud , Esperanza de Vida/etnología , Grupo de Ascendencia Oceánica/estadística & datos numéricos , Fumar Tabaco/etnología , Femenino , Humanos , Masculino , Nueva Zelanda/epidemiología , Fumar Tabaco/epidemiología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA