Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.

Introduction: Educational attainment, widely used in epidemiologic studies as a surrogate for socioeconomic status, is a predictor of cardiovascular health outcomes. Methods: A two-stage genome-wide meta-analysis of low-density lipoprotein cholesterol (LDL), high-density lipoprotein cholesterol (HDL), and triglyceride (TG) levels was performed while accounting for gene-educational attainment interactions in up to 226,315 individuals from five population groups. We considered two educational attainment variables: "Some College" (yes/no, for any education beyond high school) and "Graduated College" (yes/no, for completing a 4-year college degree). Genome-wide significant (p < 5 × 10-8) and suggestive (p < 1 × 10-6) variants were identified in Stage 1 (in up to 108,784 individuals) through genome-wide analysis, and those variants were followed up in Stage 2 studies (in up to 117,531 individuals). Results: In combined analysis of Stages 1 and 2, we identified 18 novel lipid loci (nine for LDL, seven for HDL, and two for TG) by two degree-of-freedom (2 DF) joint tests of main and interaction effects. Four loci showed significant interaction with educational attainment. Two loci were significant only in cross-population analyses. Several loci include genes with known or suggested roles in adipose (FOXP1, MBOAT4, SKP2, STIM1, STX4), brain (BRI3, FILIP1, FOXP1, LINC00290, LMTK2, MBOAT4, MYO6, SENP6, SRGAP3, STIM1, TMEM167A, TMEM30A), and liver (BRI3, FOXP1) biology, highlighting the potential importance of brain-adipose-liver communication in the regulation of lipid metabolism. An investigation of the potential druggability of genes in identified loci resulted in five gene targets shown to interact with drugs approved by the Food and Drug Administration, including genes with roles in adipose and brain tissue. Discussion: Genome-wide interaction analysis of educational attainment identified novel lipid loci not previously detected by analyses limited to main genetic effects.

COVID-19 and outpatient care: a nationwide household survey / COVID-19 e assistência ambulatorial: uma pesquisa domiciliar de abrangência nacional / COVID-19 y atención ambulatoria: una encuesta domiciliaria a escala nacional

We aimed to assess the proportion of the population in 133 Brazilian municipalities who - from March to August 2020 - had a health problem but failed to seek care or failed to attend to a health service for routine appointment or examination. We conducted a household survey from August 24-27 in 133 Brazilian cities by asking the subjects if, since the beginning of the COVID-19 pandemic in March 2020, they had suffered from a health problem but did not seek care or failed to attend to a routine or screening examination. Poisson regression was used for the analyses. We interviewed 33,250 subjects and 11.8% (95%CI: 11.4-12.1) reported that, since March 2020, they failed to seek care despite being ill, 17.3% (95%CI: 16.9-17.7) failed to attend to a routine or screening examination and 23.9% (95%CI: 23.4-24.4) reported one or both outcomes. Health service closure and fear of the COVID-19 infection were the main reasons for not seeking care. Women and the poorest were more likely to not look for a health service, despite having a health problem or a scheduled routine appointment. On the other hand, those subjects who self-identified as white were less likely to not look for a health service. The COVID-19 pandemic is more critical for the indigenous people and the poorest, and these people are also more likely to not seek care for other health conditions during the pandemic.

O estudo teve como objetivo avaliar a proporção da população de 133 cidades brasileiras que apresentou algum problema de saúde entre março e agosto de 2020, mas que deixou de procurar atendimento, ou que deixou de buscar um serviço de saúde para consultas ou exames de rotina. Foram realizadas entrevistas domiciliares entre 24 e 27 de agosto de 2020 em 133 áreas urbanas brasileiras. Perguntava-se aos indivíduos se, desde o início da pandemia de COVID-19 em março de 2020, haviam sofrido algum problema de saúde mais não haviam procurado atendimento, ou se haviam deixado de realizar consultas ou exames de rotina. A regressão de Poisson foi utilizada para as análises. Foram entrevistados 33.250 indivíduos, entre os quais 11,8% (IC95%: 11,4-12,1) relataram que desde março de 2020 haviam deixado de procurar atendimento apesar de estarem doentes, 17,3% (IC95%: 16,9-17,7) haviam deixado de comparecer a consultas de rotina ou triagem e 23,9% (IC95%: 23,4-24,4) relataram um ou ambos os desfechos. O fechamento dos serviços de saúde e o medo da infecção pelo SARS-CoV-2 foram os principais motivos para não buscar atendimento. As mulheres e os indivíduos com menor nível socioeconômico mostraram maior probabilidade de não procurarem serviços de saúde em caso de doença, ou de faltar a consultas de rotina previamente agendadas. Por outro lado, indivíduos que se identificavam como brancos eram menos propensos a deixar de procurar os serviços de saúde. A pandemia da COVID-19 está afetando mais duramente os indígenas e as pessoas com menor nível socioeconômico, que também são mais propensos a deixar de procurar atendimento para outras condições de saúde durante a pandemia.

Se realizó un estudio con el fin de evaluar la proporción de población en 133 ciudades brasileñas que -de marzo a agosto 2020- tuvieron un problema de salud, pero no consiguieron buscar cuidados, o presentarse en un servicio de salud para consultas de rutina o exámenes. Se llevó a cabo una encuesta domiciliaria entre el 24 y 27 de agosto en 133 áreas urbanas brasileñas. A los encuestados se les preguntó si, desde el principio de la pandemia de COVID-19 en marzo de 2020, habían sufrido algún problema de salud, pero no habían buscado asistencia, o no consiguieron presentarse a exámenes de rutina o de exploración. Se utilizó una regresión de Poisson para los análisis. Se entrevistó a 33.250 individuos, y un 11,8% (IC95%: 11,4-12,1) informaron que desde marzo de 2020 no consiguieron buscar asistencia, a pesar de estar enfermos, un 17,3% (IC95%: 16,9-17,7) no consiguieron presentarse a exámenes de rutina o visitas de exploración, y un 23,9% (IC95%: 23,4-24,4) informaron de uno o ambos resultados. El cierre de los servicios de salud y el miedo a contraer COVID-19 fueron las razones principales para no buscar cuidados. Las mujeres y aquellos que tenían un estatus socioeconómico bajo eran más propensos a no buscar asistencia sanitaria, tanto si tenían un problema médico, como para un chequeo rutinario o se saltaban una cita médica programada. Por otro lado, estas personas que se autoidentificaron como blancas eran menos propensas a no buscar asistencia sanitaria. La pandemia de COVID-19 está golpeando duramente a los indígenas y a quienes tienen un estatus socioeconómico bajo, y estas personas también son más propensas a no conseguir buscar asistencia sanitaria relacionada con otros problemas de salud durante la pandemia.

Uso de máscara durante a pandemia de COVID-19 no Brasil: resultados do estudo EPICOVID19-BR / Mask use during the COVID-19 pandemic in Brazil: results of the EPICOVID19-BR study / Uso de mascarillas durante la pandemia de COVID-19 en Brasil: resultados del estudio EPICOVID19-BR

A pandemia de COVID-19 já causou mais de 399 milhões de infecções e custou a vida de mais de cinco milhões de pessoas no mundo, até 3 de março de 2022. Para reduzir a taxa de infecção, uma série de medidas de prevenção indicadas pela Organização Mundial da Saúde (OMS) foram adotadas pelos países, entre elas, o uso de máscara. O objetivo deste estudo é descrever a utilização de máscara na população brasileira, através da análise de dados do EPICOVID19-BR, um estudo de base populacional realizado em 133 cidades do país, em quatro fases entre março e agosto de 2020. A proporção de indivíduos que preferiram usar máscara quando saíam de casa foi de 97,9% (IC95%: 97,8-98,0). O entrevistador não visualizou a máscara do entrevistado em 50% (IC95%: 49,9-51,1) dos casos no momento da entrevista, no entanto, entre a fase uma e quatro da pesquisa, observou-se uma diminuição de 4,4 pontos percentuais na proporção de entrevistados que não usaram máscara no momento da entrevista. A não visualização da máscara foi mais observada em mulheres, participantes com idade entre 10-19 e 20-29 anos, de cor de pele indígena, preta, e parda, entre as pessoas com Ensinos Fundamental e Médio e na Região Centro-oeste. O uso de máscara de tecido foi predominante 91,4% (IC95%: 91,2-91,5) com um aumento de 4,9 pontos percentuais entre as fases 1 e 4. Os resultados do estudo trazem informações importantes para reforçar as políticas de controle de COVID-19 no Brasil. O alto percentual de pessoas sem máscara na hora da entrevista sugere que ainda é importante reforçar o aspecto preventivo e de autocuidado, não fazendo do uso da máscara algo apenas ligado à obrigatoriedade.

By March 3, 2022, the COVID-19 pandemic has caused more than 399 million infections and claimed the lives of more than five million people worldwide. To reduce infection rates, a series of prevention measures indicated by the World Health Organization (WHO) were adopted by countries, including the use of masks. This study aims to describe mask use in Brazil via data analysis from the EPICOVID19-BR, a population-based study conducted in 133 cities in the country in four phases between March and August 2020. The proportion of individuals who reported wearing a mask when they left their homes was 97.9% (95%CI: 97.8-98.0). The interviewer did not see interviewees' mask in 50% (95%CI: 49.9-51.1) of the cases at the time of the interview. However, between phase one and four of the survey, we observed a 4.4% decrease in the proportion of interviewees who failed to wear masks at the time of the interview. Mask non-visualization was more prominent in women, participants aged 10-19 and 20-29 years of indigenous, black, and brown skin color, and those with elementary and high school education and in the Central-West Region. The use of cloth masks showed a 91.4% predominance (95%CI: 91.2-1.5) with a 4.9% increase between phases 1 and 4. The results of the study bring important information to reinforce COVID-19 control policies in Brazil. The high percentage of people who failed to wear masks at the time of the interview suggests that it is still important to reinforce prevention and self-care, rather than relating mask wear to a mandatory measure.

La pandemia del COVID-19 ha provocado más de 399 millones de infecciones y se ha cobrado la vida de más de cinco millones de personas en todo el mundo hasta el 3 de Marzo de 2022. Para reducir la tasa de contagios, los países adoptaron una serie de medidas de prevención indicadas por la Organización Mundial de la Salud (OMS), entre ellas el uso de mascarillas. El objetivo de este estudio es describir el uso de mascarillas en la población brasileña, utilizando el análisis de datos de EPICOVID19-BR, un estudio de base poblacional realizado en 133 ciudades del país, en cuatro fases entre marzo y agosto de 2020. La proporción de personas que informaron usar mascarillas al salir de casa fue del 97,9% (IC95%: 97,8-98,0). El entrevistador no vio la mascarilla del entrevistado en el 50% (IC95%: 49,9-51,1) de los casos al momento de la entrevista, sin embargo entre las fases uno y cuatro de la investigación se observó una disminución de 4,4 puntos porcentuales en la proporción de los encuestados que no llevaban mascarilla durante la entrevista. Se observó una mayor visualización de falta de uso de mascarillas en las mujeres, en participantes con edades entre 10-19 y 20-29 años, de color de piel indígena, negra y parda, entre personas con educación primaria y secundaria y en la Región Centro-oeste. Hubo un mayor predominio de uso de mascarillas de tela en el 91,4% (IC95%: 91,2-91,5) con un aumento de 4,9 puntos porcentuales entre las fases 1 y 4. Los resultados muestran la importancia de fortalecer las políticas de prevención del COVID-19 en Brasil. El alto porcentaje de personas sin mascarilla al momento de la entrevista sugiere que es importante reforzar la prevención y el autocuidado en general no solo relacionado a la obligatoriedad en el uso de mascarillas.

Time-dependent decay of detectable antibodies against SARS-CoV-2: A comparison of ELISA with two batches of a lateral-flow test

ABSTRACT Background: Large-scale epidemiological studies of seroprevalence of antibodies against SARS-CoV-2 often rely on point-of-care tests that provide immediate results to participants. Yet, little is known on how long rapid tests remain positive after the COVID-19 episode, or how much variability exists across different brands and even among batches of the same test. Methods: In November 2020, we assessed the sensitivity of three tests applied to 133 individuals with a previous positive PCR result between April and October. All subjects provided finger prick blood samples for two batches (A and B) of the Wondfo lateral-flow IgG/IgM test, and dried blood spot samples for the S-UFRJ ELISA test. Results: Overall sensitivity levels were 92.5% (95% CI 86.6-96.3), 63.2% (95% CI 54.4-71.4) and 33.8% (95% CI 25.9-42.5) for the S-UFRJ test, Wondfo A and Wondfo B tests, respectively. There was no evidence of a decline in the positivity of S-UFRJ with time since the diagnosis, but the two Wondfo batches showed sharp reductions to as low as 41.9% and 19.4%, respectively, for subjects with a positive PCR in June or earlier. Positive results for batch B of the rapid test were 35% to 54% lower than for batch A at any given month of diagnosis. Interpretation: Whereas the ELISA test showed high sensitivity and stability of results over the five months of the study, both batches of the rapid test showed substantial declines, with one of the batches consistently showing lower sensitivity levels than the other. ELISA tests based on dried-blood spots are an inexpensive alternative to rapid lateral-flow tests in large-scale epidemiological studies.

Population-level seropositivity trend for SARS-Cov-2 in Rio Grande do Sul, Brazil

ABSTRACT OBJECTIVE To describe the evolution of seropositivity in the State of Rio Grande do Sul, Brazil, through 10 consecutive surveys conducted between April 2020 and April 2021. METHODS Nine cities covering all regions of the State were studied, 500 households in each city. One resident in each household was randomly selected for testing. In survey rounds 1-8 we used the rapid WONDFO SARS-CoV-2 Antibody Test (Wondfo Biotech Co., Guangzhou, China). In rounds 9-10, we used a direct ELISA test that identifies IgG to the viral S protein (S-UFRJ). In terms of social distancing, individuals were asked three questions, from which we generated an exposure score using principal components analysis. RESULTS Antibody prevalence in early April 2020 was 0.07%, increasing to 10.0% in February 2021, and to 18.2% in April 2021. In round 10, self-reported whites showed the lowest seroprevalence (17.3%), while indigenous individuals presented the highest (44.4%). Seropositivity increased by 40% when comparing the most with the least exposed. CONCLUSIONS The proportion of the population already infected by SARS-Cov-2 in the state is still far from any perspective of herd immunity and the infection affects population groups in very different levels.

COVID-19 and social distancing among children and adolescents in Brazil

ABSTRACT OBJECTIVE To estimate the prevalence of SARS-CoV-2 antibodies and the adherence to measures of social distancing in children and adolescents studied in three national surveys conducted in Brazil between May-June 2020. METHODS Three national serological surveys were conducted in 133 sentinel cities located in all 27 Federative Units. Multistage probability sampling was used to select 250 individuals per city. The total sample size in age ranges 0-9 and 10-19 years old are of 4,263 and 8,024 individuals, respectively. Information on children or adolescents was gathered with a data collection app, and a rapid point-of-case test for SARS-CoV-2 was conducted on a finger prick blood sample. RESULTS The adjusted prevalence of antibodies was 2.9% (2.2-3.6) among children 0-9 years, 2.2% (1.8-2.6) among adolescents 10-19 years, and 3.0% (2.7-3.3) among adults 20+years. Prevalence of antibodies was higher among poor children and adolescents compared to those of rich families. Adherence to social distancing measures was seen in 72.4% (71.9-73.8) of families with children, 60.8% (59.6-61.9) for adolescents, and 57.4% (56.9-57.8) for adults. For not leaving the house except for essential matters the proportions were 81.7% (80.5-82.9), 70.6% (69.6-61.9), and 65.1% (64.7-65.5), respectively. Among children and adolescents, social distancing was strongly associated with socioeconomic status, being much higher in the better-off families. CONCLUSIONS The prevalence of antibodies against SARS-CoV-2 showed comparable levels among children, adolescents, and adults. Adherence to social distancing measures was more prevalent in children, followed by adolescents. There were important socioeconomic differences in the adherence to social distancing among children and adolescents.

Evolução da prevalência de infecção por COVID-19 no Rio Grande do Sul, Brasil: inquéritos sorológicos seriados / Trends in the prevalence of COVID-19 infection in Rio Grande do Sul, Brazil: repeated serological surveys

Resumo A COVID-19 é uma doença produzida pelo vírus SARS-CoV-2. Esse vírus se espalhou rapidamente pelo mundo, o que levou a Organização Mundial da Saúde a classificar a COVID-19 como uma emergência de saúde internacional e, posteriormente, a declará-la uma pandemia. O número de casos confirmados, no dia 11 de abril de 2020, já passa de 1.700.000, porém esses dados não refletem a real prevalência de COVID-19 na população, visto que, em muitos países, os testes são quase que exclusivamente realizados em pessoas com sintomas, especialmente os mais graves. Para definir políticas de enfrentamento, é essencial dispor de dados sobre a prevalência real de infecção na população. Este estudo tem por objetivos avaliar a proporção de indivíduos já infectados pelo SARS-CoV-2 no Rio Grande do Sul, Brasil, analisar a velocidade de expansão da infecção e estimar o percentual de infectados com e sem sintomas. Serão realizados quatro inquéritos sorológicos repetidos a cada 15 dias, com amostragem probabilística de nove cidades sentinela, em todas as sub-regiões do Estado. As entrevistas e testes ocorrerão no âmbito domiciliar. Serão utilizados testes rápidos para detecção de anticorpos, validados previamente ao início da coleta de dados.

Abstract COVID-19, the disease produced by the virus SARS-CoV-2, has spread quickly throughout the world, leading the World Health Organization to first classify it as an international health emergency and, subsequently, declaring it pandemic. The number of confirmed cases, as April 11, surpassed 1,700,000, but this figure does not reflect the prevalence of COVID-19 in the population as, in many countries, tests are almost exclusively performed in people with symptoms, particularly severe cases. To properly assess the magnitude of the problem and to contribute to the design of evidence-based policies for fighting COVID-19, one must accurately estimate the population prevalence of infection. Our study is aimed at estimating the prevalence of infected individuals in the state of Rio Grande do Sul, Brazil, to document how fast the infection spreads, and to estimate the proportion of infected persons who present or presented symptoms, as well as the proportion of asymptomatic infections. Four repeated serological surveys will be conducted in probability samples of nine sentinel cities every two weeks. Tests will be performed in 4,500 participants in each survey, totaling18,000 interviews. Interviews and tests will be conducted at the participants' household. A rapid test for the detection of antibodies will be used; the test was validated prior to the beginning of the fieldwork.

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.

Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene-smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene-smoking interaction analysis and 38 were newly identified (P < 5 × 10-8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings.

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Additionally, we demonstrate the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings.

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

A person's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions into a multiancestry genome-wide association study of levels of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. We included 45 studies in stage 1 (genome-wide discovery) and 66 studies in stage 2 (focused follow-up), for a total of 394,584 individuals from 5 ancestry groups. Analyses covered the period July 2014-November 2017. Genetic main effects and interaction effects were jointly assessed by means of a 2-degrees-of-freedom (df) test, and a 1-df test was used to assess the interaction effects alone. Variants at 495 loci were at least suggestively associated (P < 1 × 10-6) with lipid levels in stage 1 and were evaluated in stage 2, followed by combined analyses of stage 1 and stage 2. In the combined analysis of stages 1 and 2, a total of 147 independent loci were associated with lipid levels at P < 5 × 10-8 using 2-df tests, of which 18 were novel. No genome-wide-significant associations were found testing the interaction effect alone. The novel loci included several genes (proprotein convertase subtilisin/kexin type 5 (PCSK5), vascular endothelial growth factor B (VEGFB), and apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1) complementation factor (A1CF)) that have a putative role in lipid metabolism on the basis of existing evidence from cellular and experimental models.

Ewing Sarcoma: influence of TP53 Arg72Pro and MDM2 T309G SNPs.

The Ewing Sarcoma is an important tumor of bone and soft tissue. The SNPs Arg72Pro of TP53 and T309G of MDM2 have been associated with many cancer types and have been differently distributed among populations worldwide. Based on a case-control design, this study aimed to assess the role of these SNPs in 24 Ewing Sarcoma patients, compared to 91 control individuals. DNA samples were extracted from blood and genotyped for both SNPs by PCR-RFLP and confirmed by DNA sequencing. The results showed an association between the G allele of the T309G and Ewing Sarcoma (P=0.02). Comparing to the TT carriers, the risk of G allele carriers was 3.35 (95% CI=1.22-9.21) with P=0.02. At the genotypic level, an association of the TT genotype with the control group (P=0.03) was found. Comparing to the TT genotype, the risk of TG and GG was 2.97 (95% CI=1.03-8.58) with P=0.04 and 5.00 (95% CI=1.23-20.34) with P=0.02, respectively. No associations regarding the Arg72Pro SNP were found. Considering that the T309G has been associated with several types of cancer, including sarcomas, our results indicate that this SNP may also be important to Ewing Sarcoma predisposition.

Telomeres and tissue engineering: the potential roles of TERT in VEGF-mediated angiogenesis.

Telomeres are protective structures located at the end of eukaryotic chromosomes which are shortened after each cell division, leading to senescence. Telomerase activity prevents telomere shortening by reverse transcription catalyzed by the subunit called TERT (telomerase reverse transcriptase). TERT expression has shown interesting cellular properties, which may be appealing for tissue engineering, such as the enhancement of cell proliferation and differentiation abilities in vitro. Despite some evidence for playing these roles in VEGF (vascular endothelial growth factor)-mediated angiogenesis, it is still unclear whether TERT can contribute to this essential event to generate functional organs. This review suggests a hypothesis that TERT and VEGF potentially regulates the transcriptional expression of each other, which would give new perspectives in the roles of telomerase in regulating several cellular processes, and also contributing for a better comprehension of the molecular mechanisms underlying VEGF signaling (both paracrine and autocrine). In general, based on the literature revised, it is possible to conclude that TERT is a potential VEGF enhancer; however, it is necessary to elaborate methodological approaches to explore this potential and to assess the potential benefits on tissue engineering approaches.

TP53 gene polymorphism: importance to cancer, ethnicity and birth weight in a Brazilian cohort.

Arg72Pro SNP of p53 has been associated with many types of cancer as well as with survival and longevity. We evaluated the Arg72Pro SNP frequencies of a Brazilian birth cohort and their association with current, demographic and birth epidemiological parameters available. In 1982, all hospital births of Pelotas, southern Brazil, were identified and studied prospectively. In 2004-5, blood samples were collected and DNA extracted. PCR-RFLP was used to genotype the Arg72Pro SNP in 3794 individual samples of the Brazil birth cohort and DNA sequencing was performed to confirm the genotypes. The genotype distribution, which was in Hardy-Weinberg equilibrium, showed a predominance of the arginine amino acid with a frequency of 46.9% Arg/Arg, 42.2% Arg/Pro and 10.9% Pro/Pro. The allele frequency was 0.68 of Arginine and 0.32 of Proline. The Arg72Pro SNP genotype and allelic frequency were related to skin colour where proline amino acid was observed more among black subjects, while arginine amino acid was observed more among white subjects. The individuals without family history of cancer and those with low birth weight were associated with arginine amino acid. The Arg72Pro SNP was strongly associated with important epidemiological variables confirming that genetic profiles on cohort studies can improve our understanding of the susceptibility of diseases and its risk factors.