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1.
Nat Genet ; 53(11): 1553-1563, 2021 11.
Article in English | MEDLINE | ID: mdl-34663923

ABSTRACT

Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. Mutational profiles were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development.


Subject(s)
Esophageal Neoplasms/epidemiology , Esophageal Neoplasms/genetics , Esophageal Squamous Cell Carcinoma/epidemiology , Esophageal Squamous Cell Carcinoma/genetics , Mutation , APOBEC Deaminases/genetics , Adult , Aged , Aged, 80 and over , Aldehyde Dehydrogenase, Mitochondrial/genetics , Brazil/epidemiology , China/epidemiology , Female , Humans , Incidence , Iran/epidemiology , Male , Middle Aged , Tumor Suppressor Protein p53/genetics , United Kingdom/epidemiology , Whole Genome Sequencing
2.
Rev Panam Salud Publica ; 28(3): 174-81, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20963264

ABSTRACT

OBJECTIVE: To estimate prevalence of type 2 diabetes (diabetes) and impaired fasting glucose (IFG) in the border region between the United States of America and Mexico, by ethnic origin and country of residence; identify risk factors associated with both conditions; and explore the extent to which these factors account for cross-border or ethnic disparities in prevalence. METHODS: From April 2001 to November 2002, Phase I of the U.S.-Mexico Border Diabetes Prevention and Control Project, a prevalence study of diabetes and its risk factors, was conducted at the U.S.-Mexico border using multistage cluster sampling. A questionnaire was administered on diabetes (self-reported) and lifestyle and a physical examination and blood sample were obtained. A total of 4,027 adults participated in the study: 2,120 Hispanics from the Mexican side of the border and 1,437 Hispanics and 470 non-Hispanics (of whom 385 were classified as "white") from the U.S. side of the border. RESULTS: The age-adjusted prevalence of self-reported and unrecognized diabetes in Hispanics was 15.4% (16.6% on the Mexican side of the border and 14.7% on the U.S. side). The age-adjusted prevalence of IFG was similar on both sides of the border (14.1% on the Mexican side and 13.6% on the U.S. side). CONCLUSIONS: Established risk factors for diabetes (e.g., age, obesity, and family history) were relevant and there was an inverse relationship between diabetes and education and socioeconomic level. While diabetes prevalence is high on both sides of the U.S.-Mexico border, one-third of the cases remain undiagnosed, suggesting a need for development and implementation of a public health program for prevention, diagnosis, and control of diabetes in the region.


Subject(s)
Diabetes Mellitus, Type 2/epidemiology , Ethnicity/statistics & numerical data , Adult , Aged , Anthropometry , Blood Glucose/analysis , Cross-Sectional Studies , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/ethnology , Female , Habits , Health Surveys , Humans , Life Style , Male , Mexican Americans/statistics & numerical data , Mexico/epidemiology , Mexico/ethnology , Middle Aged , Prevalence , Reproductive History , Risk Factors , Socioeconomic Factors , Southwestern United States/epidemiology , Surveys and Questionnaires , White People/statistics & numerical data
3.
Rev. panam. salud pública ; 28(3): 174-181, Sept. 2010. tab
Article in English | LILACS | ID: lil-561460

ABSTRACT

OBJETIVE: To estimate prevalence of type 2 diabetes (diabetes) and impaired fasting glucose (IFG) in the border region between the United States of America and Mexico, by ethnic origin and country of residence; identify risk factors associated with both conditions; and explore the extent to which these factors account for cross-border or ethnic disparities in prevalence. METHODS: From April 2001 to November 2002, Phase I of the U.S.-Mexico Border Diabetes Prevention and Control Project, a prevalence study of diabetes and its risk factors, was conducted at the U.S.-Mexico border using multistage cluster sampling. A questionnaire was administered on diabetes (self-reported) and lifestyle and a physical examination and blood sample were obtained. A total of 4 027 adults participated in the study: 2 120 Hispanics from the Mexican side of the border and 1 437 Hispanics and 470 non-Hispanics (of whom 385 were classified as "white") from the U.S. side of the border. RESULTS: The age-adjusted prevalence of self-reported and unrecognized diabetes in Hispanics was 15.4 percent (16.6 percent on the Mexican side of the border and 14.7 percent on the U.S. side). The age-adjusted prevalence of IFG was similar on both sides of the border (14.1 percent on the Mexican side and 13.6 percent on the U.S. side). CONCLUSIONS: Established risk factors for diabetes (e.g., age, obesity, and family history) were relevant and there was an inverse relationship between diabetes and education and socioeconomic level. While diabetes prevalence is high on both sides of the U.S.-Mexico border, one-fourth of the cases remain undiagnosed, suggesting a need for development and implementation of a public health program for prevention, diagnosis, and control of diabetes in the region.


OBJETIVO: Calcular la prevalencia de la diabetes de tipo 2 (diabetes) y de la alteración de la glucosa en ayunas en la zona fronteriza entre México y los Estados Unidos, por origen étnico y país de residencia; identificar los factores de riesgo asociados a ambas afecciones, y explorar en qué grado estos factores explican las diferencias transfronterizas o étnicas en la prevalencia. MÉTODOS: Entre abril del 2001 y noviembre del 2002, se realizó la fase I del Proyecto de Prevención y Control de la Diabetes en la Frontera México-Estados Unidos, un estudio de prevalencia de la diabetes y sus factores de riesgo, mediante un muestreo por conglomerados en varias fases. Se utilizó un cuestionario acerca de la diabetes (autonotificada) y el modo de vida, se realizó una exploración física y se extrajo una muestra de sangre. En total, participaron 4 027 adultos en el estudio: 2 120 hispanos del lado mexicano de la frontera, y 1 437 y 470 no hispanos (de los cuales, 385 se clasificaron como "blancos") del lado estadounidense de la frontera. RESULTADOS: La prevalencia (ajustada según la edad) de la diabetes autonotificada y no diagnosticada en los hispanos fue de 15,4 por ciento (16,6 por ciento en el lado mexicano de la frontera y 14,7 por ciento en el lado estadounidense). La prevalencia (ajustada según la edad) de la alteración de la glucosa en ayunas fue similar en ambos lados de la frontera (14,1 por ciento en el lado mexicano y 13,6 por ciento en el lado estadounidense). CONCLUSIONES: Los factores de riesgo conocidos para la diabetes (por ejemplo edad, obesidad y antecedentes familiares) resultaron relevantes y hubo una relación inversa entre la diabetes y el nivel socioeconómico y la escolaridad. Si bien la prevalencia de la diabetes es alta en ambos lados de la frontera entre México y los Estados Unidos, un cuarto de los casos sigue sin diagnóstico, lo que indica la necesidad de crear y ejecutar un programa de salud pública para la prevención, el diagnóstico y el control de la diabetes en la zona.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , /epidemiology , Ethnicity/statistics & numerical data , Anthropometry , Blood Glucose/analysis , Cross-Sectional Studies , /blood , /diagnosis , /ethnology , White People/statistics & numerical data , Habits , Health Surveys , Life Style , Mexican Americans/statistics & numerical data , Mexico/epidemiology , Mexico/ethnology , Prevalence , Surveys and Questionnaires , Reproductive History , Risk Factors , Socioeconomic Factors , Southwestern United States/epidemiology
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