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Assisted sexual coral propagation, resulting in greater genet diversity via genetic recombination, has been hypothesized to lead to more adaptable and, hence, resilient restored populations compared to more common clonal techniques. Coral restoration efforts have resulted in substantial populations of 'Assisted sexual Recruits' (i.e., juvenile corals derived from assisted sexual reproduction; AR) of multiple species outplanted to reefs or held in in situ nurseries across many locations in the Caribbean. These AR populations provided context to evaluate their relative resilience compared to co-occurring coral populations during the 2023 marine heat wave of unprecedented duration and intensity that affected the entire Caribbean. Populations of six species of AR, most ranging in age from 1-4 years, were surveyed across five regions during the mass bleaching season in 2023 (Aug-Dec), alongside co-occurring groups of corals to compare prevalence of bleaching and related mortality. Comparison groups included conspecific adult colonies as available, but also the extant co-occurring coral assemblages in which conspecifics were rare or lacking, as well as small, propagated coral fragments. Assisted sexual recruits had significantly lower prevalence of bleaching impacts (overall pooled ~ 10%) than conspecific coral populations typically comprised of larger colonies (~ 60-100% depending on species). In addition, small corals derived from fragmentation (rather than sexual propagation) in two regions showed bleaching susceptibility intermediate between AR and wild adults. Overall, AR exhibited high bleaching resistance under heat stress exposure up to and exceeding Degree Heating Weeks of 20°C-weeks. As coral reefs throughout the globe are subject to increasingly frequent and intense marine heatwaves, restoration activities that include sexual reproduction and seeding can make an important contribution to sustain coral populations.
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Antozoários , Recifes de Corais , Animais , Antozoários/fisiologia , Região do Caribe , Branqueamento de Corais , Termotolerância , Reprodução/fisiologia , Temperatura Alta/efeitos adversosRESUMO
AIMS/HYPOTHESIS: The Latino population has been systematically underrepresented in large-scale genetic analyses, and previous studies have relied on the imputation of ungenotyped variants based on the 1000 Genomes (1000G) imputation panel, which results in suboptimal capture of low-frequency or Latino-enriched variants. The National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) released the largest multi-ancestry genotype reference panel representing a unique opportunity to analyse rare genetic variations in the Latino population. We hypothesise that a more comprehensive analysis of low/rare variation using the TOPMed panel would improve our knowledge of the genetics of type 2 diabetes in the Latino population. METHODS: We evaluated the TOPMed imputation performance using genotyping array and whole-exome sequence data in six Latino cohorts. To evaluate the ability of TOPMed imputation to increase the number of identified loci, we performed a Latino type 2 diabetes genome-wide association study (GWAS) meta-analysis in 8150 individuals with type 2 diabetes and 10,735 control individuals and replicated the results in six additional cohorts including whole-genome sequence data from the All of Us cohort. RESULTS: Compared with imputation with 1000G, the TOPMed panel improved the identification of rare and low-frequency variants. We identified 26 genome-wide significant signals including a novel variant (minor allele frequency 1.7%; OR 1.37, p=3.4 × 10-9). A Latino-tailored polygenic score constructed from our data and GWAS data from East Asian and European populations improved the prediction accuracy in a Latino target dataset, explaining up to 7.6% of the type 2 diabetes risk variance. CONCLUSIONS/INTERPRETATION: Our results demonstrate the utility of TOPMed imputation for identifying low-frequency variants in understudied populations, leading to the discovery of novel disease associations and the improvement of polygenic scores. DATA AVAILABILITY: Full summary statistics are available through the Common Metabolic Diseases Knowledge Portal ( https://t2d.hugeamp.org/downloads.html ) and through the GWAS catalog ( https://www.ebi.ac.uk/gwas/ , accession ID: GCST90255648). Polygenic score (PS) weights for each ancestry are available via the PGS catalog ( https://www.pgscatalog.org , publication ID: PGP000445, scores IDs: PGS003443, PGS003444 and PGS003445).
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Diabetes Mellitus Tipo 2 , Saúde da População , Humanos , Estudo de Associação Genômica Ampla , Diabetes Mellitus Tipo 2/genética , Medicina de Precisão , Genótipo , Hispânico ou Latino/genética , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
Echinoderm mass mortality events shape marine ecosystems by altering the dynamics among major benthic groups. The sea urchin Diadema antillarum, virtually extirpated in the Caribbean in the early 1980s by an unknown cause, recently experienced another mass mortality beginning in January 2022. We investigated the cause of this mass mortality event through combined molecular biological and veterinary pathologic approaches comparing grossly normal and abnormal animals collected from 23 sites, representing locations that were either affected or unaffected at the time of sampling. Here, we report that a scuticociliate most similar to Philaster apodigitiformis was consistently associated with abnormal urchins at affected sites but was absent from unaffected sites. Experimentally challenging naïve urchins with a Philaster culture isolated from an abnormal, field-collected specimen resulted in gross signs consistent with those of the mortality event. The same ciliate was recovered from treated specimens postmortem, thus fulfilling Koch's postulates for this microorganism. We term this condition D. antillarum scuticociliatosis.
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Ecossistema , Ouriços-do-Mar , Animais , Região do CaribeRESUMO
Background: Plasma lipid levels are a major risk factor for cardiovascular diseases. Although international efforts have identified a group of loci associated with the risk of dyslipidemia, Latin American populations have been underrepresented in these studies. Objective: To know the genetic variation occurring in lipid-related loci in the Mexican population and its association with dyslipidemia. Methods: We searched for single-nucleotide variants in 177 lipid candidate genes using previously published exome sequencing data from 2838 Mexican individuals belonging to three different cohorts. With the extracted variants, we performed a case-control study. Logistic regression and quantitative trait analyses were implemented in PLINK software. We used an LD pruning using a 50-kb sliding window size, a 5-kb window step size and a r2 threshold of 0.1. Results: Among the 34251 biallelic variants identified in our sample population, 33% showed low frequency. For case-control study, we selected 2521 variants based on a minor allele frequency ≥1% in all datasets. We found 19 variants in 9 genes significantly associated with at least one lipid trait, with the most significant associations found in the APOA1/C3/A4/A5-ZPR1-BUD13 gene cluster on chromosome 11. Notably, all 11 variants associated with hypertriglyceridemia were within this cluster; whereas variants associated with hypercholesterolemia were located at chromosome 2 and 19, and for low high density lipoprotein cholesterol were in chromosomes 9, 11, and 19. No significant associated variants were found for low density lipoprotein. We found several novel variants associated with different lipemic traits: rs3825041 in BUD13 with hypertriglyceridemia, rs7252453 in CILP2 with decreased risk to hypercholesterolemia and rs11076176 in CETP with increased risk to low high density lipoprotein cholesterol. Conclusions: We identified novel variants in lipid-regulation candidate genes in the Mexican population, an underrepresented population in genomic studies, demonstrating the necessity of more genomic studies on multi-ethnic populations to gain a deeper understanding of the genetic structure of the lipemic traits.
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Etnicidade , Região do Caribe , Estudos de Coortes , Humanos , América Latina/epidemiologiaRESUMO
Coral reefs worldwide are degrading due to climate change, overfishing, pollution, coastal development, coral bleaching, and diseases. In areas where the natural recovery of an ecosystem is negligible or protection through management interventions insufficient, active restoration becomes critical. The Reef Futures symposium in 2018 brought together over 400 reef restoration experts, businesses, and civil organizations, and galvanized them to save coral reefs through restoration or identify alternative solutions. The symposium highlighted that solutions and discoveries from long-term and ongoing coral reef restoration projects in Spanish-speaking countries in the Caribbean and Eastern Tropical Pacific were not well known internationally. Therefore, a meeting of scientists and practitioners working in these locations was held to compile the data on the extent of coral reef restoration efforts, advances and challenges. Here, we present unpublished data from 12 coral reef restoration case studies from five Latin American countries, describe their motivations and techniques used, and provide estimates on total annual project cost per unit area of reef intervened, spatial extent as well as project duration. We found that most projects used direct transplantation, the coral gardening method, micro-fragmentation or larval propagation, and aimed to optimize or scale-up restoration approaches (51%) or provide alternative, sustainable livelihood opportunities (15%) followed by promoting coral reef conservation stewardship and re-establishing a self-sustaining, functioning reef ecosystems (both 13%). Reasons for restoring coral reefs were mainly biotic and experimental (both 42%), followed by idealistic and pragmatic motivations (both 8%). The median annual total cost from all projects was $93,000 USD (range: $10,000 USD-$331,802 USD) (2018 dollars) and intervened a median spatial area of 1 ha (range: 0.06 ha-8.39 ha). The median project duration was 3 years; however, projects have lasted up to 17 years. Project feasibility was high with a median of 0.7 (range: 0.5-0.8). This study closes the knowledge gap between academia and practitioners and overcomes the language barrier by providing the first comprehensive compilation of data from ongoing coral reef restoration efforts in Latin America.
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Conservação dos Recursos Naturais/métodos , Recifes de Corais , Recuperação e Remediação Ambiental/métodos , Animais , Antozoários/crescimento & desenvolvimento , Região do Caribe , Mudança Climática , Ecossistema , Pesqueiros , Previsões , Humanos , América Latina , Oceano PacíficoRESUMO
CONTEXT: The agreement between glucose-based and hemoglobin A1c (HbA1c)-based American Diabetes Association criteria in the diagnosis of normal glucose tolerance, prediabetes, or diabetes is under scrutiny. A need to explore the issue among different populations exists. OBJECTIVE: Examine the results obtained with both methods in the diagnosis of the glycemic status. DESIGN: The Mexico City Diabetes Study is a population-based, prospective investigation. SETTING: Low-income elder urban community. PARTICIPANTS: All 854 participants without known diabetes had both oral glucose tolerance test (OGTT) and HbA1c measurements on the same day of the 2008 phase. INTERVENTIONS: Standardized protocol: questionnaires, anthropometry, and biomarkers. MAIN OUTCOME: Diagnostic classification of American Diabetes Association criteria. RESULTS: We found by OGTT normal glucose tolerance (NGT) in 512 (59.9%) participants, prediabetes [impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT)] in 261 (30.5%), and diabetes in 81 (9.4%). In total, 232 in the NGT group (45.3%) and 158 in the prediabetes group (60.5%) had HbA1c ≥6.5%. Body mass index, waist circumference, and blood pressure were significantly different among OGTT-defined diabetic status groups but not in the HbA1c-diagnosed group. We identified 404 participants in the NGT group with confirmed NGT throughout all phases of the Mexico City Diabetes Study. Of these, 184 (45.5%) had HbA1c ≥6.5%. In a vital/diabetes status follow-up performed subsequently, we found that, of these, 133 remained nondiabetic, 3 had prediabetes, 7 had diabetes, and 13 had died without diabetes; we were unable to ascertain the glycemic status in 5 and vital status in 23. CONCLUSIONS: Normal OGTT coexisting with elevated HbA1c is a common finding in this cohort. It is possible that this finding is not mediated by hyperglycemia. This might occur in similar populations.
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Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated genome-wide protein coding variation in a total of 8,227 individuals with T2D and 12,966 individuals without T2D of Latino descent. We identified a novel genetic variant in the IGF2 gene associated with â¼20% reduced risk for T2D. This variant, which has an allele frequency of 17% in the Mexican population but is rare in Europe, prevents splicing between IGF2 exons 1 and 2. We show in vitro and in human liver and adipose tissue that the variant is associated with a specific, allele-dosage-dependent reduction in the expression of IGF2 isoform 2. In individuals who do not carry the protective allele, expression of IGF2 isoform 2 in adipose is positively correlated with both incidence of T2D and increased plasma glycated hemoglobin in individuals without T2D, providing support that the protective effects are mediated by reductions in IGF2 isoform 2. Broad phenotypic examination of carriers of the protective variant revealed no association with other disease states or impaired reproductive health. These findings suggest that reducing IGF2 isoform 2 expression in relevant tissues has potential as a new therapeutic strategy for T2D, even beyond the Latin American population, with no major adverse effects on health or reproduction.
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Diabetes Mellitus Tipo 2/genética , Fator de Crescimento Insulin-Like II/metabolismo , Sítios de Splice de RNA/genética , Tecido Adiposo , Linhagem Celular , Regulação da Expressão Gênica/fisiologia , Variação Genética , Genótipo , Humanos , Fator de Crescimento Insulin-Like II/genética , Fígado , Americanos Mexicanos/genética , México , Isoformas de Proteínas , Células-Tronco , População BrancaRESUMO
A consistent line of investigation proposes that fibromyalgia is a sympathetically maintained neuropathic pain syndrome. Dorsal root ganglia sodium channels may play a major role in fibromyalgia pain transmission. Ambroxol is a secretolytic agent used in the treatment of various airway disorders. Recently, it was discovered that this compound is also an efficient sodium channel blocker with potent anti-neuropathic pain properties. We evaluated the add-on effect of ambroxol to the treatment of fibromyalgia. We studied 25 patients with fibromyalgia. Ambroxol was prescribed at the usual clinical dose of 30 mg PO 3 times a day × 1 month. At the beginning and at the end of the study, all participants filled out the Revised Fibromyalgia Impact Questionnaire (FIQ-R) and the 2010 ACR diagnostic criteria including the widespread pain index (WPI). At the end of the study, FIQ-R decreased from a baseline value of 62 ± 15 to 51 ± 19 (p = 0.013). Pain visual analogue scale decreased from 77 ± 14 to 56 ± 30 (p = 0.018). WPI diminished from 14.6 ± 3.1 to 10.4 ± 5.3 (p = 0.001). Side effects were minor. In this pilot study, the use of ambroxol was associated to decreased fibromyalgia pain and improved fibromyalgia symptoms. The open nature of our study does not allow extracting the placebo effect from the positive results. The drug was well tolerated. Ambroxol newly recognized pharmacological properties could theoretically interfere with fibromyalgia pain pathways. Dose escalating-controlled studies seem warranted.
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Ambroxol/uso terapêutico , Analgésicos/uso terapêutico , Fibromialgia/tratamento farmacológico , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Medição da Dor , Projetos Piloto , Resultado do TratamentoRESUMO
Genome-wide association studies (GWAS) have identified 58 susceptibility alleles across 37 regions associated with the risk of colorectal cancer (CRC) with P < 5×10(-8) Most studies have been conducted in non-Hispanic whites and East Asians; however, the generalizability of these findings and the potential for ethnic-specific risk variation in Hispanic and Latino (HL) individuals have been largely understudied. We describe the first GWAS of common genetic variation contributing to CRC risk in HL (1611 CRC cases and 4330 controls). We also examine known susceptibility alleles and implement imputation-based fine-mapping to identify potential ethnicity-specific association signals in known risk regions. We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)]. Among the 57 previously published CRC susceptibility alleles with minor allele frequency ≥1%, 76.5% of SNPs had a consistent direction of effect and 19 (33.3%) were nominally statistically significant (P < 0.05). Further, rs185423955 and rs60892987 were identified as novel secondary susceptibility variants at 3q26.2 (P = 5.3×10(-5)) and 11q12.2 (P = 6.8×10(-5)), respectively. Our findings demonstrate the importance of fine mapping in HL. These results are informative for variant prioritization in functional studies and future risk prediction modeling in minority populations.
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Neoplasias Colorretais/genética , Predisposição Genética para Doença , Hispânico ou Latino/genética , Idoso , Alelos , Estudos de Coortes , Feminino , Variação Genética , Genética Populacional , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Fibromyalgia (FM) is a chronic disease that has been linked to inflammatory reactions and changes in the systemic levels of proinflammatory cytokines that modulate responses in the sympathetic nervous system and hypothalamic-pituitary-adrenal axis. We found that concentrations of IL-6 and IL-8 were elevated in FM patients. Both cytokines correlated with clinical scores, suggesting that IL-6 and IL-8 have additive or synergistic effects in perpetuating the chronic pain in FM patients. These findings indicate that IL-6 and IL-8 are two of the most constant inflammatory mediators in FM and that their levels correlate significantly with the severity of symptoms.
Assuntos
Fibromialgia/sangue , Fibromialgia/diagnóstico , Mediadores da Inflamação/sangue , Interleucina-6/sangue , Interleucina-8/sangue , Adulto , Biomarcadores/sangue , Feminino , Humanos , Inflamação/sangue , Inflamação/diagnóstico , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
Antecedentes La fibromialgia (FM) se caracteriza por dolor crónico generalizado, fatiga, alteraciones del sueño, depresión, ansiedad y disautonomía (hiperactividad simpática). Objetivo Comparar la variabilidad de la frecuencia cardiaca (VFC) en mujeres: 20 pacientes con FM vs. 20 controles, mediante Holter de 24 hrs. Método La medición consistió en segmentos de cinco minutos. El dominio de la frecuencia se determinó por logaritmo natural de la razón LF/HF (Low/High Frecuencies). Se utilizó ANOVA simple para dos grupos de variables dimensionales. Resultados El rango de edad fue de 30 a 60 años. Nueve mujeres presentaron comorbilidad psiquiátrica: depresión (77.7%) y ansiedad (22.3%). Hubo diferencias (F=24.45, p<0.0001) en LF/HF entre los grupos en la fase nocturna del registro (22 hrs a 2 am), mostrándose mayor activación simpática en las pacientes. En el índice SDNN (desviación estándar de intervalos entre latidos) existieron diferencias significativas en 9 de 12 periodos del registro. En el índice pNN50 (porcentaje de intervalos que difieren en más de 50 milisegundos), el grupo control mostró valores más altos de 6 a 12 hrs. La variación nocturna se observó de 22 hrs. (F=22.37, p=0.0001) hasta las 6 am (F=30.27, p=0.0001). El indicador rMSSD (raíz cuadrada de la media de las diferencias de la frecuencia cardiaca) mostró valores más altos para el grupo control desde las 22 hrs. (F=67.71, p=0.0001) hasta las 6am (F=80.35, p=0.0001). Discusión y conclusión Los resultados reflejan la disminución del influjo parasimpático en las pacientes con FM. Esto confirma la participación del sistema nervioso parasimpático en la fisiopatología de la FM.
Background Fibromyalgia (FM) is characterized by chronic widespread pain, fatigue, sleep disturbances, depression, anxiety and dysautonomia (sympathetic hyperactivity). Objective To compare the heart rate variability (HRV) in women: 20 patients with FM vs. 20 controls by Holter 24 hrs. Method The measurement consisted of segments of five minutes. The frequency domain is determined by the natural logarithm of the LF/HF (Low/ High Frecuencies) reason. Simple ANOVA was used for two groups of dimensional variables. Results The age range was 30-60 years. Nine presented psychiatric comorbidity: depression (77.7%) and anxiety (22.3%). There were differences (F = 24.45, p <0.0001) in LF/HF between groups in the nocturnal phase of registration (22 pm to 2 am) showing increased sympathetic activation in patients. In the SDNN index (standard deviation of intervals between heartbeats) there were significant differences on December 9 periods of record. In pNN50 index (percentage of intervals which differ by more than 50 milliseconds), the control group showed higher values of 6 to 12 hrs. Nocturnal variation was observed in 22 hrs (F = 22.37, p = 0.0001) until 6am (F = 30.27, p = 0.0001). The rMSSD indicator (square root of the mean of the differences in heart rate) showed higher values for the control group from 22 hrs (F = 67.71, p = 0.0001) until 6am (F = 80.35, p = 0.0001). Discussion and conclusion The results reflect the decreased parasympathetic influence in patients with FM. This confirms the participation of parasympathetic nervous system in the pathophysiology of FM.
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Objective. To describe risk factors associated to the incidence of type 2 diabetes (T2D) in Mexican population and to define phenotypic (clinical, anthropometric, metabolic) characteristics present in the individual who will convert to diabetes, regardless of time of onset. Materials and methods. The Mexico City Diabetes Study began in 1990, with 2 282 participants, and had three subsequent phases: 1994, 1998, and 2008. A systematic evaluation with an oral glucose tolerance test was performed in each phase. For diagnosis of T2D, American Diabetes Association criteria were used. Results. The population at risk was 1939 individuals. Subjects who were in the converter stage (initially non diabetic that eventually converted to T2D) had, at baseline, higher BMI (30 vs 27), systolic blood pressure (119 vs 116 mmHg), fasting glucose (90 vs 82mg/dl), triglycerides (239 vs 196mg/dl), and cholesterol (192 vs 190mg/dl), compared with subjects who remained non converters (p<0.05). Conclusion. The phenotype described represents a potentially identifiable phase and a target for preventive intervention.
Objetivo. Describir los factores de riesgo asociados con la incidencia de diabetes tipo 2 (T2D) en la población mexicana, así como el fenotipo de los sujetos que desarrollarán diabetes, independientemente del tiempo que lleve el desarrollo de esta nueva condición. Material y métodos. El Estudio de la Diabetes de la Ciudad de México inició en 1990 y tuvo un total de 2 282 participantes a los que se dio seguimiento en tres ocasiones: 1994, 1998 y 2008. Se realizó una curva de tolerancia a la glucosa para diagnosticar T2D, para lo cual se siguieron los criterios de la Asociación Americana de Diabetes. Resultados. La población en riesgo fue de 1939 sujetos. Los individuos en proceso de desarrollo (aquellos inicialmente no diabéticos que desarrollaron T2D) mostraron niveles más altos de IMC (30 vs 27), presión arterial sistólica (119 vs 116 mmHg), glucosa en ayuno (90 vs 82 mg/dl), triglicéridos (239 vs 196 mg/dl) y colesterol (192 vs 190 mg/dl), comparados con los sujetos que no desarrollaron T2D (p<0.05). Conclusiones. El estado de los individuos que se convertirán en diabéticos es discernible y representa una fase del padecimiento con potencial para la prevención.
Assuntos
Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Mama/patologia , Bombas de Infusão Implantáveis , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/secundário , Esquema de Medicação , Epirubicina/administração & dosagem , Floxuridina/administração & dosagem , Fluoruracila/administração & dosagem , Artéria Hepática , Infusões Intra-Arteriais , Medroxiprogesterona/administração & dosagemRESUMO
IMPORTANCE: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. OBJECTIVES: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships. DESIGN, SETTING, AND PARTICIPANTS: Whole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14,276 participants and characterized in experimental assays. MAIN OUTCOME AND MEASURES: Prevalence of type 2 diabetes. Secondary outcomes included age of onset, body mass index, and effect on protein function. RESULTS: A single rare missense variant (c.1522G>A [p.E508K]) was associated with type 2 diabetes prevalence (odds ratio [OR], 5.48; 95% CI, 2.83-10.61; P = 4.4 × 10(-7)) in hepatocyte nuclear factor 1-α (HNF1A), the gene responsible for maturity onset diabetes of the young type 3 (MODY3). This variant was observed in 0.36% of participants without type 2 diabetes and 2.1% of participants with it. In multiethnic replication data sets, the p.E508K variant was seen only in Latino patients (n = 1443 with type 2 diabetes and 1673 without it) and was associated with type 2 diabetes (OR, 4.16; 95% CI, 1.75-9.92; P = .0013). In experimental assays, HNF-1A protein encoding the p.E508K mutant demonstrated reduced transactivation activity of its target promoter compared with a wild-type protein. In our data, carriers and noncarriers of the p.E508K mutation with type 2 diabetes had no significant differences in compared clinical characteristics, including age at onset. The mean (SD) age for carriers was 45.3 years (11.2) vs 47.5 years (11.5) for noncarriers (P = .49) and the mean (SD) BMI for carriers was 28.2 (5.5) vs 29.3 (5.3) for noncarriers (P = .19). CONCLUSIONS AND RELEVANCE: Using whole-exome sequencing, we identified a single low-frequency variant in the MODY3-causing gene HNF1A that is associated with type 2 diabetes in Latino populations and may affect protein function. This finding may have implications for screening and therapeutic modification in this population, but additional studies are required.
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Diabetes Mellitus Tipo 2/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Adulto , Idade de Início , Idoso , Feminino , Genótipo , Hispânico ou Latino/genética , Humanos , Masculino , México , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Análise de Sequência de DNA , Estados UnidosRESUMO
OBJECTIVE: To estimate the incidence of type 2 diabetes (T2D) in Mexican population. MATERIALS AND METHODS: Population based prospective study. At baseline (1990), the population at risk (1939 non-diabetic adults 35-64 years) was evaluated with oral glucose tolerance test. Subsequent similar evaluations were done (1994, 1998, 2008). American Diabetes Association diagnostic criteria were applied. RESULTS: The period of observation was 27842 person-years, the cumulative incidence of T2D was 14.4 and 13.7 per 1000 person-years for men and women, respectively. Incidence was 15.8, 15.7 and 12.7 per 1 000 person-years for the second (1994), third (1998) and fourth (2008) follow-up phases, respectively. The mean age at diagnosis was 44 years for prevalent cases and 56 years for incident cases. CONCLUSIONS: This is the first estimate of long-term incidence of T2D in Mexican population. The incidence is among the highest reported worldwide. It remained with few changes throughout the study period.
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Diabetes Mellitus Tipo 2/epidemiologia , Adulto , Feminino , Seguimentos , Humanos , Incidência , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Pobreza , Estudos Prospectivos , Fatores de Tempo , Saúde da População UrbanaRESUMO
Objective. To estimate the incidence of type 2 diabetes (T2D) in Mexican population. Materials and methods. Population based prospective study. At baseline (1990), the population at risk (1939 non-diabetic adults 35-64 years) was evaluated with oral glucose tolerance test. Subsequent similar evaluations were done (1994, 1998, 2008). American Diabetes Association diagnostic criteria were applied. Results. The period of observation was 27842 person-years, the cumulative incidence of T2D was 14.4 and 13.7 per 1000 person-years for men and women, respectively. Incidence was 15.8, 15.7 and 12.7 per 1 000 person-years for the second (1994), third (1998) and fourth (2008) follow-up phases, respectively. The mean age at diagnosis was 44 years for prevalent cases and 56 years for incident cases. Conclusions. This is the first estimate of long-term incidence of T2D in Mexican population. The incidence is among the highest reported worldwide. It remained with few changes throughout the study period.
Objetivo. Estimar la incidencia de diabetes mellitus tipo 2 (T2D) en México. Material y métodos. Estudio prospectivo, de base poblacional. En el examen basal (1990) se evaluó a 1939 participantes normoglucémicos, con curva de tolerancia a la glucosa. Se realizó examen similar en tres evaluaciones subsecuentes (1994, 1998, 2008). Se aplicaron criterios recomendados por la American Diabetes Association. Resultados. En el tiempo de observación (27842 años persona), la incidencia acumulada de T2D fue de 14.4 y 13.7 por 1000 años persona en hombres y mujeres, respectivamente. En evaluaciones intermedias de (1994, 1998 y 2008) fue de 15.8, 15.7 y 12.7 por 1 000 años persona, respectivamente. Los casos prevalentes tuvieron edad promedio al diagnóstico de 44 años; los incidentes de 56 años. Conclusiones. Esta es la primera estimación a largo plazo de la incidencia de T2D en población mexicana. Los resultados se encuentran entre los más altos informados en el mundo.
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , /epidemiologia , Seguimentos , Incidência , México/epidemiologia , Pobreza , Estudos Prospectivos , Fatores de Tempo , Saúde da População UrbanaRESUMO
OBJECTIVE: To describe risk factors associated to the incidence of type 2 diabetes (T2D) in Mexican population and to define phenotypic (clinical, anthropometric, metabolic) characteristics present in the individual who will convert to diabetes, regardless of time of onset. MATERIALS AND METHODS: The Mexico City Diabetes Study began in 1990, with 2 282 participants, and had three subsequent phases: 1994, 1998, and 2008. A systematic evaluation with an oral glucose tolerance test was performed in each phase. For diagnosis of T2D, American Diabetes Association criteria were used. RESULTS: The population at risk was 1939 individuals. Subjects who were in the converter stage (initially non diabetic that eventually converted to T2D) had, at baseline, higher BMI (30 vs 27), systolic blood pressure (119 vs 116 mmHg), fasting glucose (90 vs 82mg/dl), triglycerides (239 vs 196mg/dl), and cholesterol (192 vs 190mg/dl), compared with subjects who remained non converters (p<0.05). CONCLUSION: The phenotype described represents a potentially identifiable phase and a target for preventive intervention.
Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Adulto , Antropometria , Comorbidade , Progressão da Doença , Feminino , Seguimentos , Teste de Tolerância a Glucose , Humanos , Hipercolesterolemia/epidemiologia , Hipertensão/epidemiologia , Hipertrigliceridemia/epidemiologia , Incidência , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Sobrepeso/epidemiologia , Fenótipo , Estado Pré-Diabético/epidemiologia , Prevalência , Estudos Prospectivos , Fatores de RiscoRESUMO
Objective. To determine prevalence of hyperuricemia and its relation with intake of sweetened beverages (SB) and metabolic syndrome (MS) in low income urban Mexican population. Materials and methods. A cross-sectional analysis of The Mexico City Diabetes Study, a prospective population-based investigation (1 173 participants) was performed. We used logistic regression, adjusted by pertinent variables. We determined prevalence of hyperuricemia and explored associations of uric acid levels with MS and intake of SB. Results. Prevalence of hyperuricemia was 26.5 and 19.8% in males and females respectively. In an adjusted multivariate model, body mass index, waist circumference, and triglyceride were higher as uric acid quartiles increased (p<0.005-0.001). The odds ratio for MS was 1.48 for 3rd uric acid quartile and 2.03 for 4th quartile. Higher consumption of SB was associated with higher uric acid levels (p<0.001). Conclusion. Prevalence of hyperuricemia is high. Potential association with intake of SB, resulting in metabolic alterations should be considered.
Objetivo. Determinar prevalencia de hiperuricemia en población mexicana urbana de bajos ingresos, relación con ingesta de bebidas endulzadas y síndrome metabólico. Material y métodos. Análisis transversal del Estudio de la Diabetes en la Ciudad de México (1 173 participantes), utilizando regresión logística, ajustada por variables pertinentes. Se determinó prevalencia de hiperuricemia, se exploraron asociaciones de niveles de ácido úrico con síndrome metabólico y bebidas endulzadas. Resultados. La prevalencia de hiperuricemia fue 26.5 y 19.8%, hombres y mujeres, respectivamente. El índice de masa corporal, circunferencia de cintura y triglicéridos fueron más altos con cada cuartil de ácido úrico (p<0.005 - 0.001). La razón de momios para síndrome metabólico fue 1.48 para el tercer cuartil y 2.03 para el cuarto. Se encontró mayor consumo de bebidas endulzadas a mayores niveles de acido úrico (p<0.001). Conclusión. La prevalencia de hiperuricemia es alta. La asociación con bebidas endulzadas y las alteraciones metabólicas resultantes deben considerarse.
Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Bebidas , Hiperuricemia/epidemiologia , Síndrome Metabólica/epidemiologia , Edulcorantes , Estudos Transversais , Diabetes Mellitus/epidemiologia , México/epidemiologia , Prevalência , Estudos Prospectivos , Saúde da População UrbanaRESUMO
OBJECTIVE. To determine prevalence of hyperuricemia and its relation with intake of sweetened beverages (SB) and metabolic syndrome (MS) in low income urban Mexican population. MATERIALS AND METHODS. A cross-sectional analysis of The Mexico City Diabetes Study, a prospective population-based investigation (1 173 participants) was performed. We used logistic regression, adjusted by pertinent variables. We determined prevalence of hyperuricemia and explored associations of uric acid levels with MS and intake of SB. RESULTS. Prevalence of hyperuricemia was 26.5 and 19.8% in males and females respectively. In an adjusted multivariate model, body mass index, waist circumference, and triglyceride were higher as uric acid quartiles increased (p<0.005-0.001). The odds ratio for MS was 1.48 for 3rd uric acid quartile and 2.03 for 4th quartile. Higher consumption of SB was associated with higher uric acid levels (p<0.001). CONCLUSION. Prevalence of hyperuricemia is high. Potential association with intake of SB, resulting in metabolic alterations should be considered.