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Native American genetic ancestry has been remarkably implicated with increased risk of diverse health issues in several Mexican populations, especially in relation to the dramatic changes in environmental, dietary, and cultural settings they have recently undergone. In particular, the effects of these ecological transitions and Westernization of lifestyles have been investigated so far predominantly on Mestizo individuals. Nevertheless, indigenous groups, rather than admixed Mexicans, have plausibly retained the highest proportions of genetic components shaped by natural selection in response to the ancient milieu experienced by Mexican ancestors during their pre-Columbian evolutionary history. These formerly adaptive variants have the potential to represent the genetic determinants of some biological traits that are peculiar to Mexican people, as well as a reservoir of loci with possible biomedical relevance. To test such a hypothesis, we used genome-wide genotype data to infer the unique adaptive evolution of Native Mexican groups selected as reasonable descendants of the main pre-Columbian Mexican civilizations. A combination of haplotype-based and gene-network analyses enabled us to detect genomic signatures ascribable to polygenic adaptive traits plausibly evolved by the main genetic clusters of Mexican indigenous populations to cope with local environmental and/or cultural conditions. Some of these adaptations were found to play a role in modulating the susceptibility/resistance of these groups to certain pathological conditions, thus providing new evidence that diverse selective pressures have contributed to shape the current biological and disease-risk patterns of present-day Native and Mestizo Mexican populations.
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Adaptación Fisiológica , Selección Genética , Genotipo , Haplotipos , Humanos , Herencia MultifactorialRESUMEN
BACKGROUND: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Peninsula. Dissecting the evolutionary history of the ancestors of present-day Italians may thus improve the understanding of demographic and biological processes that contributed to shape the gene pool of European populations. However, previous SNP array-based studies failed to investigate the full spectrum of Italian variation, generally neglecting low-frequency genetic variants and examining a limited set of small effect size alleles, which may represent important determinants of population structure and complex adaptive traits. To overcome these issues, we analyzed 38 high-coverage whole-genome sequences representative of population clusters at the opposite ends of the cline of Italian variation, along with a large panel of modern and ancient Euro-Mediterranean genomes. RESULTS: We provided evidence for the early divergence of Italian groups dating back to the Late Glacial and for Neolithic and distinct Bronze Age migrations having further differentiated their gene pools. We inferred adaptive evolution at insulin-related loci in people from Italian regions with a temperate climate, while possible adaptations to pathogens and ultraviolet radiation were observed in Mediterranean Italians. Some of these adaptive events may also have secondarily modulated population disease or longevity predisposition. CONCLUSIONS: We disentangled the contribution of multiple migratory and adaptive events in shaping the heterogeneous Italian genomic background, which exemplify population dynamics and gene-environment interactions that played significant roles also in the formation of the Continental and Southern European genomic landscapes.
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Evolución Molecular , Variación Genética , Genoma Humano , Arqueología , ADN Antiguo/análisis , Humanos , Italia , Población BlancaRESUMEN
Hepatitis C virus (HCV) is a lipid-enveloped virion particle that causes infection to the liver, and as part of its life cycle, it disrupts the host lipid metabolic machinery, particularly the cholesterol synthesis pathway. The innate immune response generated by liver resident immune cells is responsible for successful viral eradication. Unfortunately, most patients fail to eliminate HCV and progress to chronic infection. Chronic infection is associated with hepatic fat accumulation and inflammation that triggers fibrosis, cirrhosis, and eventually hepatocellular carcinoma. Despite that the current direct-acting antiviral agents have increased the cure rate of HCV infection, viral genotype and the host genetic background influence both the immune response and lipid metabolism. In this context, recent evidence has shown that cholesterol and its derivatives such as oxysterols might modulate and potentialize the hepatic innate immune response generated against HCV. The impairment of the HCV life cycle modulated by serum cholesterol could be relevant for the clinical management of HCV-infected patients before and after treatment. Alongside, cholesterol levels are modulated either by genetic variations in IL28B, ApoE, and LDLR or by dietary components. Indeed, some nutrients such as unsaturated fatty acids have demonstrated to be effective against HCV replication. Thus, cholesterol modifications may be considered as a new adjuvant strategy for HCV infection therapy by providing a biochemical tool that guides treatment decisions, an improved treatment response and favoring viral clearance. Herein, the mechanisms by which cholesterol contributes to the immune response against HCV infection and how genetic and environmental factors may affect this role are reviewed.
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Antivirales/uso terapéutico , Colesterol/inmunología , Hepacivirus/efectos de los fármacos , Hepatitis C/tratamiento farmacológico , Inmunidad Innata , Hígado/efectos de los fármacos , Animales , Antivirales/efectos adversos , Colesterol/sangre , Hepacivirus/crecimiento & desarrollo , Hepacivirus/inmunología , Hepatitis C/sangre , Hepatitis C/inmunología , Hepatitis C/virología , Interacciones Huésped-Patógeno , Humanos , Hígado/inmunología , Hígado/metabolismo , Hígado/virología , Resultado del Tratamiento , Replicación Viral/efectos de los fármacosRESUMEN
BACKGROUND: Alcohol intake has been associated with the bitter taste receptor T2R38. TAS2R38 gene expresses two common haplotypes: PAV and AVI. It has been reported that AVI homozygotes consume more alcohol than heterozygotes and PAV homozygotes. The aim of this study was to determine the prevalence of the TAS2R38 haplotypes among Mexican-Mestizo population and to analyze its association with alcohol intake. MATERIAL AND METHODS: In a cross-sectional study, a total of 375 unrelated Mestizo individuals were genotyped for TAS2R38 polymorphisms (A49P, V262A and I296V) by a Real-Time PCR System (TaqMan). Haplotype frequencies were calculated. Association of TAS2R38 haplotypes with alcohol intake was estimated in drinkers (DRS) and nondrinkers (NDRS). RESULTS: Two haplotypes accounted for over 96% of all haplotypes(AVV, 60%, and PAI, 36.5%). The frequency of AVV homozygotes was significantly higher in DRS than NDRS(47.2 vs. 32.2%, respectively; p < 0.05). Additionally, the AVV/AVV genotype was associated with alcohol intake when compared with heterozygotes and PAI homozygotes (OR = 1.79, 95% CI 1.13-2.84, p < 0.05 and OR = 2.23, 95% CI 1.11-4.48; p < 0.05, respectively). CONCLUSIONS: In conclusion, two TAS2R38 haplotypes(AVV and PAI) prevailed in Mexican-Mestizo population. The novel AVV haplotype was associated with alcohol intake. The high prevalence of this allelic profile in our population could help to explain, at least in part, the preference for alcohol among the Mexicans.
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Consumo de Bebidas Alcohólicas/genética , Haplotipos , Indígenas Norteamericanos/genética , Receptores Acoplados a Proteínas G/genética , Adulto , Consumo de Bebidas Alcohólicas/etnología , Consumo de Bebidas Alcohólicas/psicología , Estudios Transversales , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Heterocigoto , Homocigoto , Humanos , Indígenas Norteamericanos/psicología , Masculino , México , Persona de Mediana Edad , Oportunidad Relativa , Fenotipo , Reacción en Cadena en Tiempo Real de la Polimerasa , Gusto/genética , Percepción del Gusto/genética , Adulto JovenRESUMEN
Cardiovascular diseases (CVD) represent a major health problem worldwide. In Italy, despite the decline in CVD mortality and disability-adjusted life years recently observed, CVD remains the leading cause of death. The development of CVD has a complex and multifactorial etiology that involves environmental, lifestyle/behavioral (e.g., unhealthy diet, physical inactivity, smoking, and alcohol abuse), metabolic, and genetic factors. Although a large number of CVD susceptibility genetic variants have been identified, some seem to confer risk according to the genetic background or ethnicity of the population. Some CVD-associated polymorphisms with appreciable frequency in the Italian population may be important contributors to the development and progression of the most prevalent CVD in the population. This literature review aims to provide an overview of the epidemiology of CVD in Italy, as well as to highlight the main genetic, lifestyle/behavioral, and metabolic factors contributing to CVD risk in this population.
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Chronic liver disease is a global health issue. Patients with chronic liver disease require a fresh approach that focuses on the genetic and environmental factors that contribute to disease initiation and progression. Emerging knowledge in the fields of Genomic Medicine and Genomic Nutrition demonstrates differences between countries in terms of genetics and lifestyle risk factors such as diet, physical activity, and mental health in chronic liver disease, which serves as the foundation for the implementation of Personalized Medicine and Nutrition (PerMed-Nut) strategies. Most of the world's populations have descended from various ethnic groupings. Mexico's population has a tripartite ancestral background, consisting of Amerindian, European, and African lineages, which is common across Latin America's regional countries. The purpose of this review is to discuss the genetic and environmental components that could be incorporated into a PerMed-Nut model for metabolic-associated liver disease, viral hepatitis B and C, and hepatocellular carcinoma in Mexico. Additionally, the implementation of the PerMed-Nut approach will require updated medicine and nutrition education curricula. Training and equipping future health professionals and researchers with new clinical and investigative abilities focused on preventing liver illnesses in the field of genomic hepatology globally is a vision that clinicians and nutritionists should be concerned about.
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BACKGROUND: Dyslipidemias are metabolic abnormalities associated with chronic diseases caused by genetic and environmental factors. The Mexican population displays regional differences according to ethnicity with an impact on the type of dyslipidemia. AIM: To define the main dyslipidemias, the frequency of lipid-related risk alleles, and their association with hyperlipidemic states among different ethnic groups in West Mexico. METHODS: In a retrospective study, 1324 adults were selected to compare dyslipidemias and lipid-related gene polymorphisms. Demographic, clinical, and laboratory data were collected. A subgroup of 196 normal weight subjects without impaired glucose was selected for the association analyses. Genotyping was determined by allelic discrimination assay. RESULTS: Hypercholesterolemia was the most prevalent dyslipidemia (42.3%). The frequency of the risk alleles associated with hypoalphalipoproteinemia (ABCA1) and hypercholesterolemia (APOE, LDLR) was higher in the Native Americans (P = 0.047). In contrast, the Mestizos with European ancestry showed a higher frequency of the risk alleles for hypertriglyceridemia (APOE2, MTTP) (P = 0.045). In normal weight Mestizo subjects, the APOB TT and LDLR GG genotypes were associated risk factors for hypercholesterolemia (OR = 5.33, 95%CI: 1.537-18.502, P = 0.008 and OR = 3.90, 95%CI: 1.042-14.583, P = 0.043, respectively), and displayed an increase in low-density lipoprotein cholesterol levels (APOB: ß = 40.39, 95%CI: 14.415-66.366, P = 0.004; LDLR: ß = 20.77, 95%CI: 5.763-35.784, P = 0.007). CONCLUSION: Gene polymorphisms and dyslipidemias showed a differential distribution. Regional primary health care strategies are required to mitigate their prevalence considering the genetic and environmental features which could have important implications for personalized medicine within the new era of precision medicine.
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The Genome-based Mexican (GENOMEX) diet is a strategy for preventing and managing obesity. Emotion and eating behavior in the context of a nutrigenetic intervention have not been thoroughly studied. We aimed to explore the influence of the GENOMEX diet on emotions, self-efficacy, and rewarding behaviors in unhealthy eating among subjects with risk factors for obesity-related chronic diseases. Twenty-eight subjects included in the six-month GENOMEX intervention answered questions regarding emotions that influence food consumption. Additionally, the Patient Health Questionnaire (PHQ-9) and the Reward-based eating drive scale (RED) were applied. In the study, minimal, mild, moderate, and severe depression were present in 46.4%, 39.3%, 10.7%, and 3.6%, respectively. RED did not change, but it correlated with a higher intake of fats (r2 = 0.684, ß = 2.066, p = 0.003). Mood influenced unhealthy eating in 71.7% of subjects, and 76.9% experienced binge episodes triggered by anxiety. Sugars were the most consumed foods during binge episodes (42.2%). Both low self-efficacy levels and binge episodes were associated with high consumption of unhealthy foods. After the intervention, 10.7% of subjects reported a high level of self-efficacy. In conclusion, a culturally acceptable and genetically compatible regional Mexican food diet reduced negative emotions and unhealthy eating while increasing self-efficacy.
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Ingestión de Alimentos/genética , Ingestión de Alimentos/psicología , Emociones , Nutrigenómica , Recompensa , Autoeficacia , Adulto , Anciano , Depresión/epidemiología , Dieta/psicología , Dieta Saludable/psicología , Grasas de la Dieta/administración & dosificación , Azúcares de la Dieta/administración & dosificación , Conducta Alimentaria/psicología , Humanos , México/epidemiología , Persona de Mediana Edad , Obesidad/epidemiología , Obesidad/prevención & control , Proyectos Piloto , Encuestas y CuestionariosRESUMEN
Traditional diets are known to be beneficial; however, both Italian and Mexican populations are gradually moving away from the Mediterranean and traditional Mexican diets. Since women play a key role in safeguarding dietary traditions and may reflect population dietary changes, we aimed to identify Italian and Mexican women's current dietary patterns (DPs) and characterize their nutrient content. Cross-sectional analyses were separately conducted on two convenience samples of 811 women from Southern Italy and 215 women from Western Mexico. Food frequency questionnaires, 24 h recalls, and a principal component analysis (PCA) approach were used to derive a posteriori DPs. In Italian women, the first DP was characterized by the consumption of legumes, vegetables, and fish (8.8% of the total variance), while the second DP was characterized by snack foods, processed meats, and non-olive oils. In Mexican women, the first DP was characterized by the consumption of meats and processed foods (12.6% of the total variance), while the second DP by fruits, vegetables, and whole grains. In both populations, adhering to the DPs rich in healthy foods (i.e., fruits, vegetables, legumes, and fish) was associated with a higher quality of diet in terms on nutrient content. However, adherence to the Western-type DPs was more common among women of younger age (p < 0.035). Thus, more extraordinary efforts are needed in promoting each country's traditional healthy diet, especially among the new generations.
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Dieta , Conducta Alimentaria , Estudios Transversales , Dieta Occidental , Femenino , Humanos , Masculino , México , VerdurasRESUMEN
Hepatitis C virus (HCV) infection is influenced by genetic (e.g., APOE polymorphisms) and environmental factors between the virus and the host. HCV modulates the host's lipid metabolism but dietary components influence lipids and in vitro HCV RNA replication. Few data exist on the role of dietary features or patterns (DPs) in HCV infection. Herein, we aimed to evaluate the nutritional profiles of chronic HCV (CHC) and spontaneous clearance (SC) Mexican patients in the context of APOE alleles and their correlation with HCV-related variables. The fibrosis-related APOEε3 allele prevailed in CHC and SC patients, who had four DPs ("meat and soft drinks", DP1; "processed animal and fried foods", DP2; "Mexican-healthy", DP3; and "fish-rich", DP4). In CHC subjects, polyunsaturated fatty acid intake (PUFA ≥ 4.9%) was negatively associated, and fiber intake (≥21.5 g/day) was positively associated with a high viral load (p < 0.036). High adherence to fish-rich DP4 was associated with a higher frequency of CHC individuals consuming PUFA ≥ 4.9% (p = 0.004) and low viral load (p = 0.036), but a lower frequency of CHC individuals consuming fiber ≥21.5 g/day (p = 0.038). In SC and CHC individuals, modifying unhealthy DPs and targeting HCV-interacting nutrients, respectively, could be part of a nutritional management strategy to prevent further liver damage.
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Dieta , Peces , Hepatitis C Crónica/virología , Fenómenos Fisiológicos de la Nutrición , Cooperación del Paciente , Carga Viral , Animales , Apolipoproteínas E/genética , Análisis Factorial , Femenino , Genotipo , Hepacivirus/fisiología , Hepatitis C Crónica/sangre , Humanos , Lípidos/sangre , Modelos Logísticos , Masculino , Persona de Mediana Edad , Curva ROC , Resultado del TratamientoRESUMEN
Adoption of diets based on some cereals, especially on rice, signified an iconic change in nutritional habits for many Asian populations and a relevant challenge for their capability to maintain glucose homeostasis. Indeed, rice shows the highest carbohydrates content and glycemic index among the domesticated cereals and its usual ingestion represents a potential risk factor for developing insulin resistance and related metabolic diseases. Nevertheless, type 2 diabetes and obesity epidemiological patterns differ among Asian populations that rely on rice as a staple food, with higher diabetes prevalence and increased levels of central adiposity observed in people of South Asian ancestry rather than in East Asians. This may be at least partly due to the fact that populations from East Asian regions where wild rice or other cereals such as millet have been already consumed before their cultivation and/or were early domesticated have relied on these nutritional resources for a period long enough to have possibly evolved biological adaptations that counteract their detrimental side effects. To test such a hypothesis, we compared adaptive evolution of these populations with that of control groups from regions where the adoption of cereal-based diets occurred many thousand years later and which were identified from a genome-wide dataset including 2,379 individuals from 124 East Asian and South Asian populations. This revealed selective sweeps and polygenic adaptive mechanisms affecting functional pathways involved in fatty acids metabolism, cholesterol/triglycerides biosynthesis from carbohydrates, regulation of glucose homeostasis, and production of retinoic acid in Chinese Han and Tujia ethnic groups, as well as in people of Korean and Japanese ancestry. Accordingly, long-standing rice- and/or millet-based diets have possibly contributed to trigger the evolution of such biological adaptations, which might represent one of the factors that play a role in mitigating the metabolic risk of these East Asian populations.
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Obesity-related chronic diseases (CD) are highly prevalent in Mexicans who show moderate to high frequencies of diet-related adaptive gene (DRAG) polymorphisms and recent shifts in traditional dietary habits and lifestyles. This study first evaluated the effects of a regionalized genome-based Mexican (GENOMEX) diet on anthropometric and biochemical parameters and, subsequently their relationship with the genetic profile of DRAG polymorphisms in subjects with metabolic risk factors for obesity-related CD. Thirty-seven eligible subjects underwent a 24-week dietary intervention with a GENOMEX diet. The DRAG polymorphisms were determined by an allelic discrimination real-time assay to evaluate their association with the clinical response to diet. The GENOMEX diet significantly improved anthropometric parameters such as total weight, body mass index, waist circumference, and body fat percentage, with an average weight loss of 6.6% (5.3 ± 5.3 kg). The frequency of subjects with insulin resistance, hypertriglyceridemia and elevated VLDL-c (48.5% vs. 24.2%, p = 0.041; 45.5% vs. 12.1%, p = 0.003; and 39.4% vs. 15.2%, p = 0.027, baseline vs. 24-weeks, respectively) was reduced. A more significant favorable effect in HOMA-IR and insulin was observed in MTHFR 677T adaptive allele carriers, but no other DRAG polymorphism was associated with clinical changes. The GENOMEX diet improved the metabolic risk factors for obesity-related CD. The recommendation and habitual consumption of a traditional Mexican diet based on knowledge of the population´s genetic and cultural history may be effective in preventing current obesity-related CD.
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Dieta Reductora , Genoma Humano , Obesidad/dietoterapia , Obesidad/metabolismo , Adulto , Antropometría , Enfermedad Crónica , Femenino , Homeostasis , Humanos , Insulina/metabolismo , Resistencia a la Insulina/genética , Masculino , México , Obesidad/genética , Polimorfismo Genético , Factores de RiesgoRESUMEN
BACKGROUND: Cholesterol is related to improvements in the rate of sustained virological response and a robust immune response against the hepatitis C virus (HCV). APOE gene polymorphisms regulate cholesterol levels modifying the course of the HCV infection. The relationship between cholesterol, APOE alleles, and the outcome of HCV infection has not been evaluated in the admixed population of Mexico. AIM: To investigate the role of APOE -ε2, -ε3, and -ε4 alleles and the metabolic profile in the outcome of HCV infection. METHODS: A total of 299 treatment-naïve HCV patients were included in this retrospective study. Patients were stratified in chronic hepatitis C (CHC) (n = 206) and spontaneous clearance (SC) (n = 93). A clinical record was registered. Biochemical tests were assessed by dry chemistry assay. APOE genotypes were determined using a Real-Time polymerase chain reaction assay. RESULTS: Total cholesterol, low-density lipoprotein cholesterol (LDL-c), triglycerides, and hypercholesterolemia were higher in SC than CHC patients as well as the frequency of the APOE ε4 allele (12.4% vs 7.3%). SC patients were overweight (54.8%). The ε4 allele was associated with SC (OR = 0.55, 95%CI: 0.31-0.98, P = 0.042) and mild fibrosis (F1-F2) in CHC patients (OR 0.091, 95%CI 0.01-0.75, P = 0.020). LDL-c ≥ 101.5 mg/dL (OR = 0.20, 95%CI: 0.10-0.41, P < 0.001) and BMI ≥ 26.6 kg/m2 (OR= 0.37, 95%CI: 0.18-0.76, P < 0.001) were associated with SC status; while ALT ≥ 50.5 IU/L was negatively associated (OR = 5.67, 95%CI: 2.69-11.97, P < 0.001). CONCLUSION: In SC patients, the APOE ε4 allele and LDL-c conferred a protective effect in the course of the HCV infection in the context of excess body weight.
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Apolipoproteínas E/genética , LDL-Colesterol/sangre , Hepatitis C/genética , Hipercolesterolemia/metabolismo , Sobrepeso/metabolismo , Adulto , Alelos , Apolipoproteínas E/metabolismo , Peso Corporal , LDL-Colesterol/metabolismo , Femenino , Hepacivirus/aislamiento & purificación , Hepacivirus/metabolismo , Hepacivirus/patogenicidad , Hepatitis C/sangre , Hepatitis C/virología , Interacciones Huésped-Patógeno/genética , Humanos , Hipercolesterolemia/sangre , Hipercolesterolemia/genética , Masculino , México , Persona de Mediana Edad , Sobrepeso/sangre , Sobrepeso/genética , Polimorfismo Genético , Factores Protectores , Remisión Espontánea , Estudios Retrospectivos , Carga Viral/genéticaRESUMEN
OBJECTIVE: To identify nonalcoholic steatohepatitis (NASH) and liver stiffness in Mexican subjects with different body mass index (BMI). METHODS: A cross-sectional study was conducted in 505 adults. Risk for NASH was defined as the presence of one or more of the following biochemical and metabolic parameters (BMPs): fasting glucose ≥100 mg/dl, triglycerides (TG) ≥150 mg/dl, homeostatic model assessment of insulin resistance (HOMA-IR) ≥2.5, aspartate aminotransferase (AST) >54 IU/L and alanine aminotransferase (ALT) >42 IU/L. Body mass index measurement and nutritional assessment were performed by standard procedures. Liver fibrosis stage was determined by liver stiffness measurement using transitional elastography (TE) or by liver biopsy (LB). RESULTS: Risk for NASH was 57% (290/505). Most BMPs values incremented by BMI category. Among 171 at-risk patients, 106 subjects were evaluated by TE and 65 subjects by LB. Abnormal liver stiffness (≥6.0 kPa) was prevalent in 54% (57/106) of the cases, whereas by LB, 91% (59/65) of patients with obesity had NASH and liver fibrosis. Furthermore, liver fibrosis was prevalent in 46% (6/13) in normal weight individuals, whereas 4.6% (3/65) of patients with a BMI ≥ 35 kg/m2 showed no histopathological abnormalities. Overall, 67.8% (116/171) of the patients had abnormal liver stiffness or NASH. The normal weight patients with liver damage consumed relatively a higher fat-rich diet compared to the other groups whereas the remaining subgroups shared a similar dietary pattern. CONCLUSION: Young patients with overweight and obesity showed a high prevalence of altered BMPs related to abnormal liver stiffness assessed by TE and NASH by LB. Early diagnostic strategies are required to detect the risk for NASH and avoid further liver damage in populations with a rising prevalence of obesity by defining the risk factors involved in the onset and progression of NASH.
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Enfermedad del Hígado Graso no Alcohólico/epidemiología , Obesidad/epidemiología , Adulto , Biopsia , Índice de Masa Corporal , Estudios Transversales , Diagnóstico por Imagen de Elasticidad , Femenino , Humanos , Resistencia a la Insulina/fisiología , Hígado/metabolismo , Hígado/patología , Masculino , Persona de Mediana Edad , Enfermedad del Hígado Graso no Alcohólico/metabolismo , Obesidad/metabolismo , Sobrepeso/epidemiología , Sobrepeso/metabolismo , Prevalencia , Factores de Riesgo , Adulto JovenRESUMEN
Diet-related adaptive gene (DRAG) polymorphisms identified in specific populations are associated with chronic disorders in carriers of the adaptive alleles due to changes in dietary and lifestyle patterns in recent times. Mexico's population is comprised of Amerindians (AM) and Mestizos who have variable AM, European (EUR) and African genetic ancestry and an increased risk of nutrition-related chronic diseases. Nutritional advice based on the Mexican genome and the traditional food culture is needed to develop preventive and therapeutic strategies. Therefore, we aimed to provide a prevalence profile of several DRAG polymorphisms in the Mexican population, including Central West (CW) Mexico subpopulations. Geographic heat maps were built using ArcGIS10 (Esri, Redlands, CA, USA) software, based on the published data of the MTHFR C677T (rs1801133), ABCA1 Arg230Cys (rs9282541), APOE T388C (rs429358)/C526T (rs7412), LCT C-13910T (rs4988235) polymorphisms and AMY1 copy number variation (CNV). Also, new data obtained by allelic discrimination-real-time polymerase chain reaction (RT-PCR) assays for the MTHFR, ABCA1, and APOE polymorphisms as well as the AMY1 CNV in the CW Mexico subpopulations with different proportions of AM and EUR ancestry were included. In the CW region, the highest frequency of the MTHFR 677T, ABCA1 230C and APOE ε4 adaptive alleles was observed in the AM groups, followed by Mestizos with intermediate AM ancestry. The LCT-13910T allele frequency was highest in Mestizos-EUR but extremely low in AM, while the AMY1 diploid copy number was 6.82 ± 3.3 copies. Overall, the heat maps showed a heterogeneous distribution of the DRAG polymorphisms, in which the AM groups revealed the highest frequencies of the adaptive alleles followed by Mestizos. Given these genetic differences, genome-based nutritional advice should be tailored in a regionalized and individualized manner according to the available foods and Mexican traditional food culture that may lead to a healthier dietary pattern.
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BACKGROUND AND OBJECTIVE: Liver cirrhosis is usually detected at the later stages of disease. This study is aimed to detect liver damage in patients with chronic liver disease using transitional elastography (TE) and to assess the biochemical parameters associated with liver damage. METHODS: In 578 patients, chronic liver disease based on etiology was diagnosed by clinical and laboratory tests. Liver damage was evaluated with TE (FibroScan®), while its association with biochemical parameters was performed using the logistic regression tests. RESULTS: Overall, the main etiologies of liver damage were hepatitis C virus (HCV) (37%), alcoholic liver disease (ALD) (33%) and non-alcoholic steatohepatitis (NASH) (26%). Patients were 40 to 50 years of age. ALD and hepatitis B prevailed in men, whereas HCV and NASH in women. The stages of fibrosis were F0 (n = 121, 21%), F1 (n = 122, 21%), F2 (n = 58, 10%), F3 (n = 46, 8%) and F4 (n = 87, 15%). In patients with liver cirrhosis, ALD (n = 96/217, 45%), HCV (n = 94/217, 43%) and NASH (n = 21/217, 10%) were the leading etiologies. Platelets count (OR=3.31, 95%CI 1.61-6.78), glucose (OR=3.07, 95%CI 1.50-6.26), gamma-glutamyl-transferase (OR=3.60, 95%CI 1.79-7.25), albumin (OR=3.89, 95%CI 1.61-9.36), and total bilirubin (OR=3.93, 95%CI 1.41-10.91) were associated to advanced stages of fibrosis (F3-F4) regardless of etiology. The concordance and positive predictive values of these parameters were higher as compared to other scores. CONCLUSION: Asymptomatic liver disease due to HCV, ALD and NASH prevailed in young adults. Advanced liver damage assessed by TE was associated with five biochemical parameters. In conjunction, both methodologies may be useful for the early detection of fibrosis and cirrhosis in Latin America.
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BACKGROUND/AIM: Lactase (LCT) -13910 C>T and -22018 G>A polymorphisms associated with the lactase non-persistence (LNP)/persistence (LP) phenotypes vary globally. LP has been associated with obesity in Europeans. However, it has not been genetically evaluated in Mexico, a country with admixed population, recent introduction of dairy, and a high prevalence of obesity. Thus, we aimed to determine the distribution of the LCT polymorphisms and their association with the nutritional profile of West Mexico's populations. METHODS: Genotyping of 1,196 individuals (natives and mestizos) was carried out by a Taqman allelic discrimination assay. Descriptive statistics and interpopulation analyzes were performed by SPSS, Arlequin, and Structure software. Demographic, anthropometric, biochemical and dietary data were analyzed in 212 mestizos. RESULTS: LNP genotypes mainly prevailed (CC 68.7% and GG 68.2%); both predominated in native Huicholes and Nahuas (>97.7%). Among the mestizos, the LP genotypes were associated with a higher intake of saturated fat (9.9 ± 3.9% vs. 8.5 ± 4.0%, p = 0.018; OR = 2.55, 95% CI 1.29-5.03, p = 0.006) and a daily/more frequent consumption of dairy (88.8 vs. 78.0%; p = 0.049) than LNP genotypes. CONCLUSION: The LNP trait was predominant in Mexicans with a major Amerindian ancestry. A daily consumption of dairy was associated with a higher intake of saturated fat in LP individuals.
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Dieta , Lactasa/genética , Adulto , Estudios Transversales , Productos Lácteos , Dieta Alta en Grasa , Etnicidad/genética , Femenino , Genotipo , Humanos , Indígenas Norteamericanos/genética , Lactasa/metabolismo , Masculino , México , Persona de Mediana Edad , Nutrigenómica , Estado Nutricional , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Adulto JovenRESUMEN
OBJECTIVE: To evaluate by the h index the scientific output of researchers from the University of Guadalajara who belong to the Sistema Nacional de Investigadores in the field of Medicine and Health Sciences. METHODS: Researchers from the University of Guadalajara were selected from the Active SNI Researchers 2013 file. The scientific output of researchers in the fields of Medicine/Health Sciences and Biology/Chemistry was evaluated using the h index estimated by the Scopus website. A sample of capital researchers and Emeritus scientists was taken to perform the same procedure and compare data. RESULTS: The total number of researchers in the University of Guadalajara who are members of the SNI was 711, of which 67.2 % were level I and in less proportion were level II and III. Only 24.2 % of them were classified in the fields of Medicine/Health Sciences and Biology/Chemistry. The average h index value of researchers level I, II and III in Medicine/Health Sciences field was 5.4, 10.5 and 14.5, respectively. Capital and Emeritus scientists had an average h index of 23.4 and 19.8, respectively. CONCLUSION: The h index measures the quantity and quality of the scientific output and it also avoids bias in the evaluation process. It should be useful for future evaluations of the SNI members and for medical doctors who sign up for the National Academy of Medicine.
Objetivo: evaluar mediante el índice h la productividad científica de investigadores de la Universidad de Guadalajara (UDG) que pertenecen al Sistema Nacional de Investigadores (SNI), en el área de Medicina y Ciencias de la Salud. Métodos: investigadores de la UDG fueron seleccionados del archivo Investigadores Vigentes 2013 del sitio web del SNI. La productividad científica de aquellos registrados en el área de Medicina y Ciencias de la Salud y en Biología y Química se evaluó con el índice h calculado por la base de datos Scopus. Del mismo archivo se seleccionó una muestra de investigadores Eméritos y de aquellos laborando en instituciones capitalinas para realizar el mismo procedimiento y comparar resultados. Resultados: en el SNI, 711 investigadores pertenecieron a la UDG, de los cuales 67.2 % fueron SNI nivel I, y en menor proporción nivel II y III. Solo 24.2 % de ellos, se clasificaron en las áreas de Medicina y Ciencias de la Salud y Biología y Química. El índice h promedio de investigadores nivel I, II y III en Medicina y Ciencias de la Salud fue 5.4, 10.5 y 14.5, respectivamente. Los investigadores capitalinos y Eméritos tuvieron un índice h promedio de 23.4 y 19.8 respectivamente. Conclusión: el índice h permite medir cuantitativa y cualitativamente la productividad científica de los investigadores, evitando sesgo en procesos de evaluación. Se propone su uso en futuras evaluaciones de los miembros del SNI y para médicos que se inscriban a la Academia Nacional de Medicina.