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1.
Medicine (Baltimore) ; 98(39): e17298, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574854

RESUMO

Recently, studies have shown significant association between the rs2000999 polymorphism in the haptoglobin-encoding gene (HP) and low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) levels, which are important risk factors for cardiovascular diseases. However, the association of rs2000999 with serum lipids in Latin American diabetic populations is still uncharacterized. Here, we analyzed the association of rs2000999 with TC, high-density lipoprotein cholesterol (HDL-C), and LDL-C levels in 546 Mexican adults with type 2 diabetes (T2D) and in 654 controls without T2D. In this observational case-control study we included adults from 4 centers of the Mexican Social Security Institute in Mexico City recruited from 2012 to 2015. TC, HDL-C, LDL-C, triglycerides (TG), and glucose levels were measured by an enzymatic colorimetric method. The variant rs2000999 was genotyped using TaqMan real time polymerase chain reaction. The percentage of Native-American ancestry showed a negative association with the rs2000999 A allele. In contrast, the rs2000999 A allele had a strong positive association with European ancestry, and to a lesser extent, with African ancestry. Linear regression was used to estimate the association between the variant rs2000999 and lipid concentrations, using different genetic models. Under codominant and recessive models, rs2000999 was significantly associated with TC and LDL-C levels in the T2D group and in controls without T2D. In addition, the group with T2D showed a significant association between the variant and HDL-C levels. In summary, the rs2000999 A allele in Mexican population is positively associated with the percentage of European and negatively associated with Native American ancestry. Carriers of the A allele have increased levels of TC and LDL-C, independently of T2D diagnosis, and also increased concentrations of HDL-C in the T2D sample.


Assuntos
Doenças Cardiovasculares , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Colesterol/sangue , Diabetes Mellitus Tipo 2 , Haptoglobinas , Adulto , Biomarcadores/análise , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/genética , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Feminino , Haptoglobinas/análise , Haptoglobinas/genética , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco
2.
Hum Mol Genet ; 2019 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-31504550

RESUMO

Although hundreds of GWAS-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity, and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated with childhood obesity, we performed a trans-ancestral meta-analysis of thirty studies consisting of up to 13,005 cases (≥95th percentile of BMI achieved 2-18 years old) and 15,599 controls (consistently <50th percentile of BMI) of European, African, North/South American and East Asian ancestry. Suggestive loci were taken forward for replication in a sample of 1,888 cases and 4,689 controls from seven cohorts of European and North/South American ancestry. In addition to observing eighteen previously implicated BMI or obesity loci, for both early and late onset, we uncovered one completely novel locus in this trans-ancestral analysis (nearest gene: METTL15). The variant was nominally associated in only the European subgroup analysis but had a consistent direction of effect in other ethnicities. We then utilized trans-ancestral Bayesian analysis to narrow down the location of the probable causal variant at each genome-wide significant signal. Of all the fine-mapped loci, we were able to narrow down the causative variant at four known loci to fewer than ten SNPs (FAIM2, GNPDA2, MC4R and SEC16B loci). In conclusion, an ethnically diverse setting has enabled us to both identify an additional pediatric obesity locus and further fine-map existing loci.

3.
J Clin Pharmacol ; 59(10): 1384-1390, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31012983

RESUMO

The organic cation transporters OCT1 and OCT2 and the multidrug and toxin extrusion transporter MATE1, encoded by the SLC22A1, SLC22A2, and SLC47A1 genes, respectively, are responsible for the absorption of metformin in enterocytes, hepatocytes, and kidney cells. The aim of this study was to evaluate whether genetic variations in the SLC22A1, SLC22A2, and SLC47A1 genes could be associated with an altered response to metformin in patients with type 2 diabetes mellitus. A cohort study was conducted in 308 individuals with a diagnosis of type 2 diabetes mellitus of less than 3 years and who had metformin monotherapy. Three measurements of blood glycated hemoglobin (HbA1c ) were obtained at the beginning of the study and after 6 and 12 months. Five polymorphisms were analyzed in the SLC22A1 (rs622342, rs628031, rs594709), SLC22A2 (rs316019), and SLC47A1 (rs2289669) genes by real-time polymerase chain reaction. The results showed a significant association among genotypes CC-rs622342 (ß = 1.36; P < .001), AA-rs628031 (ß = 0.98; P = .032), and GG-rs594709 (ß = 1.21; P = .016) in the SLC22A1 gene with an increase in HbA1c levels during the follow-up period. Additionally, a significant association was found in the CGA and CAG haplotypes with an increase in HbA1c levels compared to the highest-frequency haplotype (AGA). In conclusion, the genetic variation in the SLC22A1 gene was significantly related to the variation of the HbA1c levels, an important indicator of glycemic control in diabetic patients. This information may contribute to identifying patients with an altered response to metformin before starting their therapy.

4.
Artigo em Inglês | MEDLINE | ID: mdl-30700010

RESUMO

Diabetes is a chronic and noncommunicable but preventable disease that is affecting the Mexican population at worrying levels, being the first place in prevalence worldwide. Early diabetes detection has become important to prevent other health conditions that involve low organ yield until the patient death. Based on this problem, this work proposes the architecture of an Artificial Neural Network (ANN) for the automated classification of healthy patients from diabetics patients. The analysis was performed used a set of 19 para-clinical features to determine the health status of the patients. The developed model was evaluated through a statistical analysis based on the calculation of the loss function, accuracy, area under the curve (AUC) and receiving operating characteristics (ROC) curve. The results obtained present statistically significant values, with accuracy of 0.94 and AUC values of 0.98. Based on these results, it is possible to conclude that the ANN implemented in this work can classify patients with presence of diabetes from controls with significant accuracy, presenting preliminary results for the development of a diagnostic tool that can be supportive for health specialists.


Assuntos
Diabetes Mellitus/diagnóstico , Redes Neurais (Computação) , Adulto , Área Sob a Curva , Diagnóstico Precoce , Feminino , Nível de Saúde , Humanos , Masculino , México , Pessoa de Meia-Idade , Modelos Teóricos , Curva ROC
5.
Gac Med Mex ; 155(1): 30-38, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-30799453

RESUMO

Introduction: The prevalence of chronic complications and comorbidities in patients with type 2 diabetes (T2D) has increased worldwide. Objective: To compare the prevalence of complications and chronic comorbidities in patients with T2D at 36 family medicine units of five chapters of the Mexican Institute of Social Security (IMSS). Method: Complications (hypoglycemia, diabetic foot, kidney disease, retinopathy, ischemic heart disease, cerebrovascular disease and heart failure) and comorbidities (liver disease, cancer and anemia) were identified according to codes of the International Classification of Diseases, 10th Revision. Comparisons were made by chapter, age, gender and evolution time. Results: Complications and comorbidities were more common in subjects aged ≥ 62 years. Out of 297 100 patients, 34.9 % had any complication; microvascular complications (32 %) prevailed in the industrial North, whereas macrovascular complications (12.3 %) did in the rural East, and comorbidities (5 %) in southern Mexico City. Complications predominated in men (any complication, 30.2 %). Heart failure and comorbidities were more common in women (5.6 % and 4.9 %, respectively). Conclusions: T2D complications and comorbidities showed geographic and gender differences, and were greater with older age and longer evolution time. It is urgent for strategies for the prevention of complications and comorbidities to be reinforced in patients with T2D.

6.
Hum Mol Genet ; 28(7): 1212-1224, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30624610

RESUMO

Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determined genes with differential predicted expression by trait. PrediXcan imputes tissue-specific expression levels from genetic variation using variant-level effect on gene expression in transcriptome data. To explore the value of imputed genetically regulated gene expression (GReX) models across different ancestral populations, we evaluated imputed expression levels for predictive accuracy genome-wide in RNA sequence data in samples drawn from European-ancestry and African-ancestry populations and identified substantial predictive power using European-derived models in a non-European target population. We then tested the association of GReX on 15 cardiometabolic traits including blood lipid levels, body mass index, height, blood pressure, fasting glucose and insulin, RR interval, fibrinogen level, factor VII level and white blood cell and platelet counts in 15 755 individuals across three ancestry groups, resulting in 20 novel gene-phenotype associations reaching experiment-wide significance across ancestries. In addition, we identified 18 significant novel gene-phenotype associations in our ancestry-specific analyses. Top associations were assessed for additional support via query of S-PrediXcan (2) results derived from publicly available genome-wide association studies summary data. Collectively, these findings illustrate the utility of transcriptome-based imputation models for discovery of cardiometabolic effect genes in a diverse dataset.


Assuntos
Previsões/métodos , Metaboloma/genética , Metaboloma/fisiologia , Adulto , Idoso , Pressão Sanguínea , Índice de Massa Corporal , Mapeamento Cromossômico/métodos , Grupos Étnicos/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Estudos de Associação Genética/métodos , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Herança Multifatorial/genética , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Transcriptoma/genética
7.
Nat Commun ; 10(1): 29, 2019 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-30604766

RESUMO

Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.


Assuntos
Taxa de Filtração Glomerular/genética , Hipertensão/genética , Cálculos Renais/genética , Rim/fisiopatologia , Insuficiência Renal Crônica/genética , Adulto , Idoso , Pressão Sanguínea/genética , Grupos Étnicos/genética , Feminino , Loci Gênicos/genética , Estudo de Associação Genômica Ampla , Código das Histonas/genética , Histonas/metabolismo , Humanos , Hipertensão/etnologia , Hipertensão/fisiopatologia , Cálculos Renais/etnologia , Cálculos Renais/fisiopatologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Insuficiência Renal Crônica/etnologia , Insuficiência Renal Crônica/fisiopatologia
8.
Diabetes Metab Syndr ; 12(5): 631-633, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29666032

RESUMO

AIM: To determine the association between the rs1256031 polymorphism and risk of developing type 2 diabetes. MATERIALS AND METHODS: Cases and controls study. 597 individuals with type 2 diabetes and 605 without it participated. Genotyping of the rs1256031 polymorphism of the ERß gene was performed by real-time PCR using TaqMan assay. For the multivariate analysis, a multiple logistic regression was performed that included the main confounding variables. RESULTS AND CONCLUSION: A multiple logistic regression analysis was performed, adjusting for age, WHR, BMI and gender. The dominant model showed a protective effect compared to the TT genotype (OR = 0.596, IC95% [0.458-0.776]). DISCUSSION: The proportions of native American, European and African ancestry were characterized and no difference was found in the study groups. The protective effect obtained in the dominant model could to be due a regulatory function in the transcription or the processing of the primary transcript. Our result are the first to report an association between the polymorphism rs1256031 and the reduction of the risk of T2D in the Mexican population. The rs1256031 polymorphism show reduced risk of developing T2D and is potential markers for predicting T2D.

9.
J Stroke Cerebrovasc Dis ; 27(5): 1357-1362, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29398535

RESUMO

BACKGROUND: Although there is adequate knowledge as to the role of traditional cardiovascular risk factors on stroke incidence, knowledge of other risk factors, particularly genetic ones, is still incomplete. METHODS: To assess the participation of some polymorphisms, along with other modifiable risk factors, a case-control study was conducted. A total of 253 cases were identified in the emergency room of a general regional hospital, with a clinical trait of stroke confirmed by a skull computerized axial tomography scan. In the surgery ward, 253 controls were identified, gender and age (±5 years) matched. Biochemical parameters were measured, and 4 polymorphisms were genotyped by polymerase chain reaction, rs1801133 (methylenetetrahydrofolate reductase [MTHFR]), rs1498373 (dimethylarginine dimethylaminohydrolase type 1 [DDAH1]), rs662799 (apolipoprotein A5 [APOA5]), and rs1799983 (endothelial nitric oxide). Odds ratios were estimated to assess the strength of association, with 95% confidence intervals, both in a matched case-control analysis and in a conditional regression analysis. RESULTS: Cases had higher mean blood pressure and triglycerides and lower hemoglobin levels. Heterozygous and homozygous subjects to the rs1801133 variant of the MTHFR gene had a 3-fold higher risk of stroke. In the dominant model, those with the polymorphism rs662799 of the promoter region for APOA5 had twice the risk of stroke. Anemia increased the risk of stroke 4-fold. CONCLUSIONS: Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure.


Assuntos
Anemia/sangue , Apolipoproteína A-V/genética , Isquemia Encefálica/sangue , Isquemia Encefálica/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único , Acidente Vascular Cerebral/genética , Anemia/diagnóstico , Anemia/epidemiologia , Biomarcadores/sangue , Pressão Sanguínea , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/epidemiologia , Estudos de Casos e Controles , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Hemoglobinas/metabolismo , Heterozigoto , Homozigoto , Humanos , Hipertensão/epidemiologia , Hipertensão/fisiopatologia , Hipertrigliceridemia/sangue , Hipertrigliceridemia/epidemiologia , Modelos Logísticos , México/epidemiologia , Análise Multivariada , Razão de Chances , Fenótipo , Prevalência , Regiões Promotoras Genéticas , Fatores de Risco , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/diagnóstico , Triglicerídeos/sangue
10.
Scand J Clin Lab Invest ; 78(1-2): 87-93, 2018 Feb - Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29241373

RESUMO

The albumin-creatinine ratio is considered an indicator of microalbuminuria, precursor to chronic kidney disease, while HbA1c is used to measure glycemic control. Given the prevalence of diabetes-related nephropathy, spot testing of albumin has long been recommended as a preventative measure, for the timely detection of microalbuminuria. However, many countries do not have this testing available in primary care, and sometimes not even in second- and third-level care. The objective of this study was to compare agreement of the microalbuminuria and HbA1c results obtained in the laboratory with 'gold standard' techniques, with those obtained on site with a 'Point of Care' DCA Vantage™ device by Siemens. Results for the albumin-creatinine ratio and HbA1c from the Siemens DCA Vantage™ point of care device were compared with those from standard laboratory tests in 25 family medicine units in Mexico City and Toluca, State of Mexico, in patients diagnosed with type-2 diabetes. Agreement between the albumin values of the 2 tests was 0.745 (CI 95% 0.655-0.812). Agreement between the two measurement techniques for HbA1c was 0.970 (CI 95% 0.966-0.973). The results obtained were sufficiently comparative (Ri= 0.74 for albumin-creatinine ratio and Ri = 0.97 for HbA1c) to justify the use of the point of care device. Given the high agreement between the point of care device and laboratory tests, this device could be used to identify chronic kidney disease and glycemic control for more adequate treatment in patients with diabetes, especially in remote areas.


Assuntos
Albuminúria/diagnóstico , Técnicas de Laboratório Clínico/métodos , Medicina de Família e Comunidade , Hemoglobina A Glicada/metabolismo , Sistemas Automatizados de Assistência Junto ao Leito , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Padrões de Referência , Reprodutibilidade dos Testes
11.
Arch Med Res ; 49(7): 486-496, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30853125

RESUMO

BACKGROUND: Paraoxonase-1(PON1) exhibits hydrolytic activity and prevents the oxidation of high and low-density lipoproteins. Polymorphisms in the PON1 gene have been associated with variations in paraoxonase activity and with the risk of coronary artery disease (CAD). AIM OF THE STUDY: This study analyzed the association between the frequencies of genotypes of the L55 M and Q192 R SNPs in the PON1 gene with the PON1 activity and with CAD risk factors. METHODS: Women, determined by body composition, biochemical markers, and arylesterase (AREase) and paraoxonase (CMPase) activities were studied. Genotyping of L55 M and Q192 R polymorphisms was performed by TaqMan. Seventeen studies were used in the meta-analysis. RESULTS: A significant decrease in PON1 activity in carrying the LM/MM and QQ genotypes is identified, correlations are found between the AREase activity with glucose, cholesterol and atherogenic risk index. Carriers of the LM or MM genotype were related with obesity (OR = 1.6; p = 0.039), and the MQ haplotype has an effect on the decrease in AREase (ß = â€’22.4; p <0.001) and CMPase (ß = â€’3.8; p <0.001). In addition, a lower proportion of Native American admixture was observed in women with LM or MM genotype, while it was higher for the European proportion compared with the LL genotype (p <0.001). CONCLUSIONS: The LL-L55 M and QR-Q192 R genotypes are identified as the most frequently in the different states or cities of the country, and genotypic proportions are different, probably depending on the genetic structure of the populations. The association that is reported more frequently in the different studies is with enzymatic activity.


Assuntos
Arildialquilfosfatase/genética , Arildialquilfosfatase/metabolismo , Doença da Artéria Coronariana/genética , Doença da Artéria Coronariana/patologia , Adulto , Idoso , Glicemia/análise , Hidrolases de Éster Carboxílico/metabolismo , Colesterol/sangue , Feminino , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Lipoproteínas HDL/metabolismo , Lipoproteínas LDL/metabolismo , México , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
12.
Sci Rep ; 7(1): 17105, 2017 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-29213072

RESUMO

The effect of Copy Number Variants (CNVs) on Type 2 Diabetes (T2D) remains little explored. The present study characterized large rare CNVs in 686 T2D and 194 non-T2D subjects of Mexican ancestry genotyped using the Affymetrix Genome-Wide Human SNP array 5.0. Rare CNVs with ≥ 100 kb length were identified using a stringent strategy based on merging CNVs calls generated using Birdsuit, iPattern and PennCNV algorithms. We applied three different strategies to evaluate the distribution of CNVs in the T2D and non-T2D samples: 1) Burden analysis, 2) Identification of CNVs in loci previously associated to T2D, and 3) Identification of CNVs observed only in the T2D group. In the CNV burden analysis, the T2D group showed a higher proportion of CNVs, and also a higher proportion of CNVs overlapping at least one gene than the non T2D group. Five of the six loci previously associated with T2D had duplications or deletions in the T2D sample, but not the non-T2D sample. A gene-set analysis including genes with CNVs observed only in the T2D group highlighted gene-sets related with sensory perception (olfactory receptors, OR) and phenylpyruvate tautomerase/dopachrome isomerase activity (MIF and DDT genes).

13.
Lipids Health Dis ; 16(1): 200, 2017 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-29025430

RESUMO

BACKGROUND: Despite ethnic disparities in lipid profiles, there are few genome-wide association studies investigating genetic variation of lipids in non-European ancestry populations. In this study, we present findings from genetic association analyses for total cholesterol, low density lipoprotein cholesterol (LDL), high density lipoprotein cholesterol (HDL), and triglycerides in a large Hispanic/Latino cohort in the U.S., the Hispanic Community Health Study / Study of Latinos (HCHS/SOL). METHODS: We estimated a heritability of approximately 20% for each lipid trait, similar to previous estimates in Europeans. To search for novel lipid loci, we performed conditional association analysis in which the statistical model was adjusted for previously reported SNPs associated with any of the four lipid traits. SNPs that remained genome-wide significant (P < 5 × 10-8) after conditioning on known loci were evaluated for replication. RESULTS: We identified eight potentially novel lipid signals with minor allele frequencies <1%, none of which replicated. We tested previously reported SNP-trait associations for generalization to Hispanics/Latinos via a statistical framework. The generalization analysis revealed that approximately 50% of previously established lipid variants generalize to HCHS/SOL based on directional FDR r-value < 0.05. Some failures to generalize were due to lack of power. CONCLUSIONS: These results demonstrate that many loci associated with lipid levels are shared across populations.


Assuntos
Alelos , Hispano-Americanos/genética , Metabolismo dos Lipídeos/genética , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Adolescente , Adulto , Idoso , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Estudos de Coortes , Feminino , Frequência do Gene , Loci Gênicos , Genoma Humano , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Saúde Pública , Triglicerídeos/sangue , Estados Unidos
14.
Am J Hum Biol ; 29(6)2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28675593

RESUMO

OBJECTIVE: Mexico's current population structure has been defined by admixture between European, Native American, and to some extent African, groups that started in the sixteenth century. The aim of this research was to analyze the relative contributions of these continental population groups to the seven regions of the state of Guerrero, Mexico. METHODS: A total of 104 ancestry informative markers were analyzed in 480 unrelated women from the seven regions of the state of Guerrero. The individual ancestry proportions were estimated using the software ADMIXMAP v3.2. RESULTS: The relative Native American, European and African ancestral contributions to the whole sample were estimated to be 69%, 27%, and 1.9%, respectively. We observed significant differences in admixture proportions across the regions. The highest average Native American ancestry was found in the Montaña region and the lowest in Costa Grande. Conversely, the highest European contribution was observed in Costa Grande. The highest African contributions were observed in the regions of Costa Chica and Costa Grande. CONCLUSIONS: The genetic structure of the population of Guerrero reflects quite well the historical processes that have occurred in this state. Native American population settlements were mainly in the regions of Montaña, Norte, and Centro, where the highest indigenous genetic contribution is observed today. European settlers came from the center of the state to regions with significant agricultural and mining activities. The highest African contributions are observed in coastal regions, in agreement with historical evidence about slave trade routes in the Americas.


Assuntos
Frequência do Gene , Adulto , Grupo com Ancestrais do Continente Africano , Idoso , Grupo com Ancestrais do Continente Europeu , Feminino , Genótipo , Humanos , Índios Norte-Americanos , México , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
16.
Prim Care Diabetes ; 11(3): 297-304, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28343902

RESUMO

AIMS: Describe stepwise strategies (electronic chart review, patient preselection, call-center, personnel dedicated to recruitment) for the successful recruitment of >5000 type 2 diabetes patients in four months. METHODS: Twenty-five family medicine clinics from Mexico City and the State of Mexico participated: 13 usual care, 6 specialized diabetes care and 6 chronic disease care. Appointments were scheduled from 11/3/2015 to 3/31/2016. Phone calls were generated automatically from an electronic database. A telephone questionnaire verified inclusion criteria, and scheduled an appointment, with a daily report of appointments, patient attendance, acceptance rate, and questionnaire completeness. Another recruitment log reviewed samples collected. Absolute number (percentage) of patients are reported. Means and standard deviations were estimated for continuous variables, χ2 test and independent "t" tests were used. OR and 95% CI were estimated. RESULTS: 14,358 appointments were scheduled, 9146 (63.7%) attended their appointment: 5710 (62.4%) fulfilled inclusion criteria and 5244 agreed to participate (91.8% acceptance). Those accepting participation were more likely women, younger and with longer disease duration (p<0.05). The cost of the call-center service was $3,010,000.00 Mexican pesos (∼$31.70 USD per recruited patient). CONCLUSIONS: Stepwise strategies recruit a high number of patients in a short time. Call centers offer a low cost per patient.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Seleção de Pacientes , Sujeitos da Pesquisa , Adolescente , Adulto , Idoso , Agendamento de Consultas , Call Centers , Distribuição de Qui-Quadrado , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/psicologia , Registros Eletrônicos de Saúde , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Pacientes não Comparecentes , Razão de Chances , Participação do Paciente , Estudos Prospectivos , Sujeitos da Pesquisa/psicologia , Tamanho da Amostra , Inquéritos e Questionários , Telefone , Adulto Jovem
17.
PLoS One ; 12(2): e0172880, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28245265

RESUMO

We carried out an admixture mapping study of lipid traits in two samples from Mexico City. Native American locus ancestry was significantly associated with triglyceride levels in a broad region of chromosome 11 overlapping the BUD13, ZNF259 and APOA5 genes. In our fine-mapping analysis of this region using dense genome-wide data, rs964184 is the only marker included in the 99% credible set of SNPs, providing strong support for rs964184 as the causal variant within this region. The frequency of the allele associated with increased triglyceride concentrations (rs964184-G) is between 30-40% higher in Native American populations from Mexico than in European populations. The evidence currently available for this variant indicates that it may be exerting its effect through three potential mechanisms: 1) modification of enhancer activity, 2) regulation of the expression of several genes in cis and/or trans, or 3) modification of the methylation patterns of the promoter of the APOA5 gene.


Assuntos
Apolipoproteína A-V/genética , Proteínas de Transporte/genética , Proteínas de Ligação a RNA/genética , Triglicerídeos/sangue , Adulto , Alelos , Grupo com Ancestrais do Continente Europeu , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Haplótipos/genética , Humanos , Desequilíbrio de Ligação/genética , Masculino , Americanos Mexicanos , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética
18.
Gac Med Mex ; 153(1): 49-56, 2017 Jan-Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28128806

RESUMO

OBJECTIVE: To evaluate the association of the V249I and T280M variants of CX3CR1 fractalkine gene with carotid intima-media thickness in Mexican subjects with and without type 2 diabetes. METHODS: We analyzed the V249I and T280M variants of the CX3CR1 receptor by TaqMan assays in 111 subjects with type 2 diabetes and 109 healthy controls. Hemoglobin A1c, glucose, and lipid profile were determined. RESULTS: A significant increase in carotid intima-media thickness was observed in type 2 diabetes patients (0.979 ± 0.361 mm) compared to healthy controls (0.588 ± 0.175 mm). In subjects carrying the MM variant of the T280M polymorphism, hemoglobin A1c was higher (p = 0.008). Classic risk factors for atherosclerosis showed no differences between carriers of the T280M and V249I variants. Controls with the II249 genotype associated with carotid intima-media thickness (0.747 ± 0.192 mm; p = 0.041), and this difference remained significant even after adjusting factors such as age, gender, and body mass index (OR: 7.7; 95% CI: 1.269-47.31; p = 0.027). CONCLUSIONS: V249I genotype of the fractalkine receptor showed a protector role in patients with type 2 diabetes. The T280M genotype is associated with increased carotid intima-media thickness in Mexican individuals with or without type 2 diabetes.


Assuntos
Espessura Intima-Media Carotídea , Diabetes Mellitus Tipo 2/diagnóstico por imagem , Diabetes Mellitus Tipo 2/genética , Receptores de Quimiocinas/genética , Adulto , Receptor 1 de Quimiocina CX3C , Feminino , Variação Genética , Genótipo , Humanos , Masculino , México , Pessoa de Meia-Idade
19.
Arch Med Res ; 47(6): 476-482, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27986128

RESUMO

BACKGROUND AND AIMS: Obesity is an important health problem worldwide and many studies have suggested a relationship between obesity and thyroid function, with controversial results. Interestingly, high TSH levels have been involved with the presence of inflammatory state and risk for developing cardiovascular diseases in hypothyroid and obese patients. The aim in this work was to determine the prevalence of hypothyroidism in patients with extreme obesity and to determine whether their TSH levels were related to increased serum levels of inflammatory and cardiovascular markers. METHODS: A cross-sectional study in 101 patients with extreme obesity (BMI ≥40) was performed. Anthropometric (weight, height and waist circumference) and biochemical (fasting glucose, glycosylated hemoglobin, triglycerides, total cholesterol, LDL-C, HDL-C and insulin) parameters were measured. TSH and FT4 levels as well as clinical exploration for diagnosis of hypothyroidism were carried out. Serum concentration of IL-10, IL-6, adiponectin, resistin, leptin, ICAM-1, VCAM-1 and E-selectin were determined. RESULTS: A high prevalence for diabetes (37.6%), prediabetes (50.5%), dyslipidemia (74.3%), hypertension (61.4%) and hypothyroidism (48.5%) was observed in patients with extreme obesity. The presence of hypothyroidism increased serum concentration of proinflammatory cytokines IL-6 and leptin and decreased the antiinflammatory cytokine adiponectin. In addition, serum TSH levels showed a correlation for waist circumference, weight, BMI, A1c, insulin, IL-6, leptin, ICAM-1 and E-selectin. CONCLUSION: There is a high prevalence for hypothyroidism in patients with extreme obesity. High levels of TSH contribute to elevate proinflammatory and cardiovascular risk markers, increasing the risk for development of cardiovascular diseases.


Assuntos
Doenças Cardiovasculares/sangue , Obesidade Mórbida/sangue , Tireotropina/sangue , Adiponectina/sangue , Adulto , Biomarcadores/sangue , Peso Corporal , Estudos Transversais , Selectina E/sangue , Feminino , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/complicações , Hipotireoidismo/epidemiologia , Inflamação/sangue , Insulina/sangue , Molécula 1 de Adesão Intercelular/sangue , Interleucina-10/sangue , Interleucina-6/sangue , Leptina/sangue , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/complicações , Prevalência , Resistina , Fatores de Risco , Triglicerídeos/sangue , Molécula 1 de Adesão de Célula Vascular/sangue , Circunferência da Cintura
20.
Gac Med Mex ; 152(Suppl 2): 14-21, 2016 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-27792712

RESUMO

OBJECTIVE: To compare the level of expression of the gene CTSL and its correlation with NKT cells in patients with recent-onset type 1 diabetes (T1D), their siblings, and healthy controls. METHODS: Analytical cross-sectional design. Patients with T1D < 3 months evolution, their siblings, and healthy controls were included. Percentages and absolute numbers of NKT cells were measured with expression of the CTSL gene. RESULTS: 124 subjects: with T1D (n = 48), siblings (n = 44) and controls (n = 32) were included. HbA1c was greater and C-peptide lower in T1D than the other groups and sibling age was higher (p < 0.001). There were no differences in NKT cells between T1D (0.176 ± 0.202) and controls (0.118 ± 0.133), but the percentage was higher in siblings (0.246 ± 0.188; p = 0.002). Lower level of expression of the CTSL gene associated with both absolute number (r: 0.4607; 95% CI: -0.08425 to -0.7935; p = 0.043) and percentage of NKT cells (r: 0.4540; 95% CI: -0.0927 to -0.7903; p = 0.045) in the T1D group. CONCLUSIONS: Patients with T1D have lower percentage and absolute number of NKT cells compared to their siblings. NKT cells absolute numbers are correlated with the expression of CTSL in T1D patients.

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