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1.
Clinics (Sao Paulo) ; 79: 100450, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39096855

RESUMO

OBJECTIVE: The purpose of the present study was to examine the association of oxidative stress markers with sarcopenia in the general United States population under the age of 60. METHODS: We used the National Health and Nutrition Examination Survey data from 2011‒2014 and performed Restricted Cubic Spline (RCS) plots, weighted multivariable logistic regression analysis to calculate ratio ratios and 95% Confidence Intervals, and subgroup analysis based on age, sex, hypertension, diabetes mellitus, and body mass index stratification to determine the association of markers of oxidative stress with the prevalence of sarcopenia. RESULTS: The present analysis included a total of 8,782 participants. Firstly, the RCS plots showed a roughly L-shaped curve association of total bilirubin and serum iron with a prevalence of sarcopenia. Secondly, albumin was negatively and linearly associated with the risk of sarcopenia. Finally, with the increase in gamma-glutamyl transferase, the prevalence of sarcopenia showed a trend of first rising and then declining as a result of the iron increase. CONCLUSIONS: We demonstrated a nonlinear association between markers of oxidative stress and sarcopenia. The need to focus more on levels of oxidative stress in the body could provide better prevention strategies for sarcopenia.


Assuntos
Biomarcadores , Inquéritos Nutricionais , Estresse Oxidativo , Sarcopenia , Humanos , Estresse Oxidativo/fisiologia , Sarcopenia/epidemiologia , Sarcopenia/sangue , Feminino , Masculino , Biomarcadores/sangue , Prevalência , Pessoa de Meia-Idade , Adulto , Estados Unidos/epidemiologia , Fatores de Risco , Ferro/sangue , Índice de Massa Corporal , gama-Glutamiltransferase/sangue , Adulto Jovem , Bilirrubina/sangue , Estudos Transversais , Fatores Etários , Fatores Sexuais
2.
Mol Cell Biochem ; 479(11): 2955-2972, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38310174

RESUMO

Angiotensin-converting enzyme (ACE) is a key component of the renin-angiotensin system and plays an important role in homeostasis and maintenance of blood pressure. However, little is known about allele and genotypic frequencies, as well as phenotypic characteristics associated with ACE polymorphism genotypes in South American populations. This study aimed to verify the allelic predominance and genotype frequency of ACE I/D polymorphism in South America and its association with the main diseases and related conditions. We conducted a systematic review considering studies published in the last 25 years available in PubMed, Scielo, LILACS, LIPECS, Coleciona SUS, CUMED, BINACIS, IBECS, and MEDLINE databases, resulting in the inclusion of 121 studies. Quality of the studies was assessed according to the Strengthening the Reporting of Genetic Association (STREGA) guidelines. We mapped the frequency of the ACE I/D polymorphism in South American populations. 8,856 (32.1%) subjects were DD, 13,050 were ID (47.4%), and 5,644 were II (20.5%) carriers. The main associated conditions included systemic arterial hypertension and other cardiovascular conditions, cardiorespiratory or respiratory characteristics, physical activity level, kidney conditions, aging-related diseases, as well as different types of cancers and metabolic conditions. 61.1% of the studies found no significant association between the respective conditions investigated and the ACE I/D polymorphism. Considering DD genotype or D allele, 21.5% of the studies observed negative and 4.9% positive outcomes. Regarding ID genotype, 4.1% of the studies identified negative and 0.8% positive outcomes, and for II genotype or I allele, 4.1% of the results had negative and 10.7% positive associations.


Assuntos
Peptidil Dipeptidase A , Polimorfismo Genético , Humanos , América do Sul , Peptidil Dipeptidase A/genética , Frequência do Gene , Mutação INDEL , Hipertensão/genética , Hipertensão/epidemiologia
3.
Nutrients ; 15(13)2023 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-37447193

RESUMO

BACKGROUND: Few studies have evaluated the association between diet-related inflammation and gastric adenocarcinoma (GA) and evidence is scarce in Brazil. This study evaluated the association between a pro-inflammatory diet and GA. METHODS: A multicenter case-control study was conducted in Brazil. A total of 1645 participants-492 cases, 377 endoscopy controls, and 776 hospital controls-were included. Energy-adjusted Dietary Inflammatory Index (E-DIITM) scores were derived from a validated food frequency questionnaire. We used binary and multinomial logistic regression models for the analysis of total GA, and its subtypes (cardia and non-cardia, intestinal, and diffuse histological subtypes). RESULTS: In cases versus endoscopy controls, a pro-inflammatory diet, estimated by higher E-DII scores, was associated with a higher risk GA (ORQ4vsQ1: 2.60, 1.16-5.70), of non-cardia GA (OR: 2.90, 1.06-7.82), and diffuse subtype (OR: 3.93, 1.59-9.70). In cases versus hospital controls, higher E-DII scores were associated with a higher risk of GA (OR: 2.70, 1.60-4.54), of cardia GA (OR: 3.31, 1.32-8.24), non-cardia GA (OR: 2.97, 1.64-5.39), and both intestinal (OR: 2.82, 1.38-5.74) and diffuse GA (OR: 2.50, 1.54-5.11) subtypes. CONCLUSIONS: This study provides evidence that a pro-inflammatory diet is associated with an increased risk of GA in Brazil. E-DII requires the inclusion of sodium due to its importance in carcinogenesis.


Assuntos
Adenocarcinoma , Dieta , Humanos , Fatores de Risco , Estudos de Casos e Controles , Brasil/epidemiologia , Dieta/efeitos adversos , Inflamação/complicações , Adenocarcinoma/etiologia , Adenocarcinoma/complicações
4.
Front Oncol ; 13: 1146008, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37182128

RESUMO

Introduction: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. Methods: We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. Results: Overall, we found 22 variants -9 of them reported for the first time- and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. Discussion: Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population.

5.
J Med Case Rep ; 17(1): 152, 2023 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-37016461

RESUMO

BACKGROUND: Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus. The 17q12 deletion syndrome is a cause of maturity-onset diabetes of the young subtype 5 that should be considered. CASE PRESENTATION: We present the case of a 35-year-old Hispanic female patient with a history of bicornuate uterus and polycystic renal disease that required kidney transplant. She had insulin-dependent diabetes, with her mother, maternal grandmother, and great-grandmother showing a similar clinical manifestation. Molecular analysis showed a deletion in chromosome 17q12 involving 15 genes, including HNF1B. Therefore, a diagnosis of deletion syndrome was made. CONCLUSIONS: The 17q12 deletion syndrome represents a rare genetic syndrome that involves different genes, including HNF1B. Principally, it is characterized by the combination of genitourinary tract malformations and diabetes mellitus, similar to our patient.


Assuntos
Transtornos Cromossômicos , Diabetes Mellitus Tipo 2 , Gravidez , Humanos , Feminino , Adulto , Deleção Cromossômica , América Latina , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/diagnóstico , Transtornos Cromossômicos/genética , Síndrome
6.
mSystems ; 7(3): e0003322, 2022 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-35477306

RESUMO

Mexican Americans have a high prevalence of diabetes and burden of diabetes-related complications, highlighting the need for novel preventive strategies and noninvasive predictors of diabetes risk tailored to this population. Changes in the gut microbiome have the potential to predict diabetes. Here, we aimed to identify alterations in the gut microbiome associated with diabetes in the high-risk population of Mexican Americans in South Texas. Stool samples were collected from 216 subjects from the population-based Cameron County Hispanic Cohort. Among them, 75 had type 2 diabetes. Taxonomic and functional profiling of the stool samples were assessed by 16S and shotgun metagenomic sequencing, and the influence of genetic factors was explored. The gut microbiome of subjects with diabetes was enriched with proinflammatory Proteobacteria members (Enterobacteriaceae, Escherichia-Shigella) and depleted of butyrate-producing Clostridiales members (Faecalibacterium prausnitzii, Peptostreptococcaceae, and Clostridium sensu stricto 1). The accompanying metagenomic changes in subjects with diabetes suggested dysregulated amino acid metabolism, reduced galacturonate and glucuronate catabolism (correlating with Faecalibacterium prausnitzii abundance), and enriched heme biosynthesis (correlating with Enterobacteriaceae abundance). Polymorphism rs7129790 near MMP27 was strongly associated with high Proteobacteria abundance and was more frequent in this cohort and in individuals of Mexican ancestry than in Europeans. In conclusion, Mexican Americans in South Texas with diabetes display distinct gut microbiome and metagenomic signatures. These signatures may have utility in risk modeling and disease prevention in this high-risk population. IMPORTANCE The gut microbiome composition varies across ethnicities and geographical locations, yet studies on diabetes-associated microbiome changes specific to high-risk Mexican Americans are lacking. Here, we aimed to identify specific alterations associated with diabetes in this population, as well as host genetic factors that may explain increased disease susceptibility in this ethnic group. Using samples from a population-based cohort of Mexican Americans with a high prevalence of obesity and diabetes, we confirmed findings from studies on other ethnicities that suggested promotion of a chronic proinflammatory environment, loss of butyrate production, and compromised intestinal barrier integrity. High abundance of proinflammatory Proteobacteria was associated with a polymorphism that was more frequent in this cohort and in individuals of Mexican ancestry than in Europeans. Validation of microbiome-based risk models for diabetes should be evaluated in prospective cohort studies.


Assuntos
Diabetes Mellitus Tipo 2 , Microbioma Gastrointestinal , Humanos , Butiratos , Diabetes Mellitus Tipo 2/epidemiologia , Enterobacteriaceae , Microbioma Gastrointestinal/genética , Americanos Mexicanos/genética , Estudos Prospectivos , Texas/etnologia
7.
Genes (Basel) ; 13(1)2022 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-35052497

RESUMO

Spinocerebellar ataxias (SCAs) conform a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Five of the most frequent SCAs are caused by a CAG repeat expansion in the exons of specific genes. The SCAs incidence and the distribution of polymorphic CAG alleles vary among populations and ethnicities. Thus, characterization of the genetic architecture of ethnically diverse populations, which have undergone recent admixture and demographic events, could facilitate the identification of genetic risk factors. Owing to the great ethnic diversity of the Mexican population, this study aimed to analyze the allele frequencies of five SCA microsatellite loci (SCA1, SCA2, SCA3, SCA6, and SCA7) in eleven Mexican Native American (MNA) populations. Data from the literature were used to compare the allelic distribution of SCA loci with worldwide populations. The SCA loci allelic frequencies evidenced a certain genetic homogeneity in the MNA populations, except for Mayans, who exhibited distinctive genetic profiles. Neither pathological nor large normal alleles were found in MNA populations, except for the SCA2 pre-mutated allele in the Zapotec population. Collectively, our findings demonstrated the contribution of the MNA ancestry in shaping the genetic structure of contemporary Mexican Mestizo populations. Our results also suggest that Native American ancestry has no impact on the origin of SCAs in the Mexican population. Instead, the acquisition of pathological SCA alleles could be associated with European migration.


Assuntos
Indígena Americano ou Nativo do Alasca/genética , Ataxina-1/genética , Etnicidade/genética , Genética Populacional , Repetições de Microssatélites , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos , Frequência do Gene , Humanos , México/epidemiologia , Ataxias Espinocerebelares/epidemiologia
8.
Pharmacogenomics ; 23(4): 225-233, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35042408

RESUMO

Aim: To explore the pharmacogenetic differentiation across Latin American populations, using the fixation index statistics (FST). Materials & methods: FST analyses were applied to 1519 pharmacogenetic markers in the 1000 Genomes admixed American superpopulation (1KG_AMR) and an admixed Brazilian sample. Results: Allele-specific FST values for the overall cohort point to little overall pharmacogenetic differentiation (average FST = 0.017); however, moderate differentiation (FST = 0.05-0.15) was observed for 83 markers, while large differentiation (FST = 0.15-0.25) was restricted to three markers. Pairwise FST analysis identified three markers with very large differentiation (FST >0.25). Conclusion: The present study verifies and extends previous reports of little overall pharmacogenetic divergence across Latin America, although a number of markers display substantial differentiation.


Assuntos
Genética Populacional , Humanos , América Latina
9.
Clin Rheumatol ; 39(9): 2715-2726, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32232735

RESUMO

INTRODUCTION: Although low back pain (LBP) is a high-impact health condition, its burden has not been examined from the syndemic perspective. OBJECTIVE: To compare and assess clinical, socioeconomic, and geographic factors associated with LBP prevalence in low-income and upper-middle-income countries using syndemic and syndemogenesis frameworks based on network and cluster analyses. METHODS: Analyses were performed by adopting network and cluster design, whereby interrelations among the individual and social variables and their combinations were established. The required data was sourced from the databases pertaining to the six Latin-American countries. RESULTS: Database searches yielded a sample of 55,724 individuals (mean age 43.38 years, SD = 17.93), 24.12% of whom were indigenous, and 60.61% were women. The diagnosed with LBP comprised 6.59% of the total population. Network analysis showed higher relationship individuals' variables such as comorbidities, unhealthy habits, low educational level, living in rural areas, and indigenous status were found to be significantly associated with LBP. Cluster analysis showed significant association between LBP prevalence and social variables (e.g. Gender inequality Index, Human Development Index, Income Inequality). CONCLUSIONS: LBP is a highly prevalent condition in Latin-American populations with a high impact on the quality of life of young adults. It is particularly debilitating for women, indigenous individuals, and those with low educational level, and is further exacerbated by the presence of comorbidities, especially those in the mental health domain. Thus, the study findings demonstrate that syndemic and syndemogenesis have the potential to widen the health inequities stemming from LBP in vulnerable populations. Key points • Syndemic and syndemogenesis evidence health disparities in Latin-American populations, documenting the complexity of suffering from a disease such as low back pain that is associated with comorbidities, unhealthy habits, and the social and regional context where they live. • The use of network and cluster analyses are useful tools for documenting the complexity and the multifaceted impact in health in large populations as well as the differences between countries. • The variability and impact of socioeconomic indicators (e.g., Gini index) related to low back pain and comorbidities could be felt through the use of cluster analysis, which generates evidence of regional inequality in Latin America. • Populations can be studied from different models (network and cluster analysis) and grouping, presenting new interpretations beyond geographical groupings, such as syndemic and inequity in health.


Assuntos
Dor Lombar , Adulto , Análise por Conglomerados , Feminino , Humanos , América Latina/epidemiologia , Dor Lombar/epidemiologia , Masculino , Qualidade de Vida , Sindemia , Estados Unidos , Adulto Jovem
10.
Cancers (Basel) ; 11(9)2019 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-31454914

RESUMO

The presence of germline and somatic deleterious mutations in the BRCA1 and BRCA2 genes has important clinical consequences for breast cancer (BC) patients. Analysis of the mutational status in BRCA genes is not yet common in public Latin American institutions; thus, our objective was to implement high-performance technology with highly reliable results with the possibility of analyzing several patients simultaneously, therefore reducing cost and work time. A prospective cohort of 252 unrelated sporadic breast cancer patients from the Mexican-mestizo population were analyzed using next generation sequencing (NGS) based on ion semiconductor sequencing. We found 28 pathogenic mutations (25 in BRCA1 and 13 in BRCA2), 11 of which had not been reported previously in Hispanic or Latin American populations. A total of 38 patients were positive for a pathogenic mutation representing 15% of our Mexican women cohort with breast cancer; 25 for BRCA1; and 13 for BRCA2. Our results revealed that there are mutations not analyzed by mutations panels, and our findings support the suitability of massive sequencing approaches in the public institutions of developing countries. Hence, BRCA screening should be offered to patients with breast cancer regardless of their family history of cancer in order to identify unaffected family carriers.

11.
Mol Biol Evol ; 36(12): 2698-2713, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31350885

RESUMO

Studies of Native South American genetic diversity have helped to shed light on the peopling and differentiation of the continent, but available data are sparse for the major ecogeographic domains. These include the Pacific Coast, a potential early migration route; the Andes, home to the most expansive complex societies and to one of the most widely spoken indigenous language families of the continent (Quechua); and Amazonia, with its understudied population structure and rich cultural diversity. Here, we explore the genetic structure of 176 individuals from these three domains, genotyped with the Affymetrix Human Origins array. We infer multiple sources of ancestry within the Native American ancestry component; one with clear predominance on the Coast and in the Andes, and at least two distinct substrates in neighboring Amazonia, including a previously undetected ancestry characteristic of northern Ecuador and Colombia. Amazonian populations are also involved in recent gene-flow with each other and across ecogeographic domains, which does not accord with the traditional view of small, isolated groups. Long-distance genetic connections between speakers of the same language family suggest that indigenous languages here were spread not by cultural contact alone. Finally, Native American populations admixed with post-Columbian European and African sources at different times, with few cases of prolonged isolation. With our results we emphasize the importance of including understudied regions of the continent in high-resolution genetic studies, and we illustrate the potential of SNP chip arrays for informative regional-scale analysis.


Assuntos
Genoma Humano , Migração Humana/história , História Antiga , Humanos , Idioma , Peru , Filogeografia
12.
Genes (Basel) ; 9(9)2018 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-30135399

RESUMO

Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G>C or rs3746444:A>G and BC risk. The rs12975333:G>T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4⁻0.9] p = 0.006 and OR = 0.6 [95% CI 0.5⁻0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C>T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.

13.
Bull Soc Pathol Exot ; 111(3): 167-175, 2018.
Artigo em Francês | MEDLINE | ID: mdl-30793571

RESUMO

The situation of the Amerindian village of Camopi in French Guiana is particular because of its geographical isolation and its socio-cultural environment. Does this unique context affect the morbidity of the children? This study describes the morbidity of children aged 0-5 years in Camopi. The study population included all the children living in Camopi, born between 01/01/2009 and 31/12/2013. Sociodemographic and medical data were collected from Child Health Record until 05/01/2016, with a maximum of five years. 149 children were included and received 5916 consultations during the period of study. ENT and upper respiratory diseases were the most frequent diseases that were followed by digestive disorders. Lower respiratory conditions were the leading cause of hospitalization. Tropical diseases were rare. Antibiotics were delivered in 32.5% of the consultations. The vaccination coverage exceeded 95% for BCG, DTP, HBVand yellow fever, remove than that of MMR which was little lower (89.9%) and only 4 children were vaccinated against pneumococcus. Despite the Amazonian context, the morbidity of Camopi's children mainly includes classic disorders. Traumas seem uncommon but can be violent. Facilitating access to rapid diagnostic tests, setting up protocols, and training staff could reduce the prescription of antibiotics.


La situation du village amérindien de Camopi en Guyane française est particulière de par son isolement géographique et son environnement socioculturel. Ce contexte singulier influe-t-il sur la morbidité des enfants de ce village ? Le but de cette étude était de décrire lamorbidité des enfants âgés de zéro à cinq ans dans ce village. La population étudiée comprenait tous les enfants résidant à Camopi, nés entre le 1er janvier 2009 et le 31 décembre 2013. Des données sociodémographiques et médicales ont été recueillies à partir des carnets de santé jusqu'au 1er mai 2016, avec une durée maximale de suivi de cinq ans. Les 149 enfants inclus ont bénéficié de 5 916 consultations au cours de la période étudiée. Les pathologies ORL et respiratoires hautes étaient les plus fréquentes suivies par les affections digestives. Les affections respiratoires basses étaient la première cause d'hospitalisation. Les pathologies tropicales étaient peu fréquentes. La prescription d'antibiotiques concernait 32,5 % des consultations. La couverture vaccinale dépassait les 95 % pour le BCG, le DTP, le VHB et la fièvre jaune, celle du ROR un peu inférieure (89,9 %), et seuls quatre enfants avaient été vaccinés contre le pneumocoque. Malgré le contexte amazonien, la morbidité des enfants de Camopi regroupe majoritairement des affections classiques. Les traumatismes semblent peu fréquents, mais peuvent être violents. La facilitation de l'accès aux tests de diagnostic rapide, la mise en place de protocoles et la formation du personnel devraient permettre de diminuer la prescription d'antibiotiques.


Assuntos
Indígenas Norte-Americanos/estatística & dados numéricos , Morbidade , Pediatria/estatística & dados numéricos , Pré-Escolar , Feminino , Guiana Francesa/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Prontuários Médicos/estatística & dados numéricos
14.
BMC Genet ; 17(1): 109, 2016 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-27421647

RESUMO

BACKGROUND: MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable of regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) can alter miRNA expression, resulting in diverse functional consequences. Previous studies have examined the association of miRNA SNPs with breast cancer (BC) susceptibility. The contribution of miRNA gene variants to BC susceptibility in South American women had been unexplored. Our study evaluated the association of the SNPs rs895819 in pre-miR27a, rs11614913 in pre-miR-196a2, rs6505162 in pre-miR-423, rs4919510 in miR-608, and rs2682818 in pre-mir-618 with familial BC and early-onset non-familial BC in non-carriers of BRCA1/2 mutations from a South American population. RESULTS: We evaluated the association of five SNPs with BC risk in 440 cases and 807 controls. Our data do not support an association of rs11614913:C > T and rs4919510:C > G with BC risk. The rs6505162:C > A was significantly associated with increased risk of familial BC in persons with a strong family history of BC (OR = 1.7 [95 % CI 1.0-2.0] p = 0.05). The rs2682818:C > A genotype C/A is associated with an increased BC risk in non-familial early-onset BC. For the rs895819:A > G polymorphism, the genotype G/G is significantly associated with reduced BC risk in families with a moderate history of BC (OR = 0.3 [95 % CI 0.1-0.8] p = 0.01). CONCLUSIONS: The contribution of variant miRNA genes to BC in South American women had been unexplored. Our findings support the following conclusions: a) rs6505162:C > A in pre-miR-423 increases risk of familial BC in families with a strong history of BC; b) the C/A genotype at rs2682818:C > A (pre-miR-618) increases BC risk in non-familial early-onset BC; and c) the G/G genotype at rs895819:A > G (miR-27a) reduces BC risk in families with a moderate history of BC.


Assuntos
Neoplasias da Mama/genética , Predisposição Genética para Doença/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Precursores de RNA/genética , Feminino , Frequência do Gene , Humanos , Pessoa de Meia-Idade , Mutação , América do Sul
15.
Med Sci (Basel) ; 4(3)2016 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-29083376

RESUMO

Cervical cancer affects millions of Americans, but the rate for cervical cancer in the Mexican American is approximately twice that for non-Mexican Americans. The etiologies of cervical cancer are still not fully understood. A number of somatic mutations, including several copy number alterations (CNAs), have been identified in the pathogenesis of cervical carcinomas in non-Mexican Americans. Thus, the purpose of this study was to investigate CNAs in association with cervical cancer in the Mexican American population. We conducted a pilot study of genome-wide CNA analysis using 2.5 million markers in four diagnostic groups: reference (n = 125), low grade dysplasia (cervical intraepithelial neoplasia (CIN)-I, n = 4), high grade dysplasia (CIN-II and -III, n = 5) and invasive carcinoma (squamous cell carcinoma (SCC), n = 5) followed by data analyses using Partek. We observed a statistically-significant difference of CNA burden between case and reference groups of different sizes (>100 kb, 10-100 kb and 1-10 kb) of CNAs that included deletions and amplifications, e.g., a statistically-significant difference of >100 kb deletions was observed between the reference (6.6%) and pre-cancer and cancer (91.3%) groups. Recurrent aberrations of 98 CNA regions were also identified in cases only. However, none of the CNAs have an impact on cancer progression. A total of 32 CNA regions identified contained tumor suppressor genes and oncogenes. Moreover, the pathway analysis revealed endometrial cancer and estrogen signaling pathways associated with this cancer (p < 0.05) using Kyoto Encyclopedia of Genes and Genomes (KEGG). This is the first report of CNAs identified for cervical cancer in the U.S. Latino population using high density markers. We are aware of the small sample size in the study. Thus, additional studies with a larger sample are needed to confirm the current findings.

16.
Rev. cuba. salud pública ; Rev. cuba. salud pública;32(3): 0-0, jul.-sep. 2006.
Artigo em Espanhol | LILACS | ID: lil-703469

RESUMO

Los procesos migratorios implican una diferenciación por género, que va desde la decisión del desplazamiento hasta las distintas opciones de inserción en las sociedades receptoras. Por otra parte, la migración es una de las fuerzas responsables del cambio en las relaciones de género. El objetivo de este trabajo es analizar las diferencias de género en dos colectivos inmigrantes asentados en Madrid. Se seleccionaron, de una población de 96 mujeres magrebíes y 125 latinoamericanas, a aquellas que tenían o habían tenido pareja estable. Se examinaron las diferencias entre cónyuges respecto a la edad al matrimonio, el nivel de estudios, el acceso laboral y los sectores ocupacionales en sus países de origen y en España, así como el impacto de la migración. Se encontraron mayores diferencias entre cónyuges en el colectivo magrebí y un acceso mayor al mercado laboral por parte de las mujeres inmigrantes en España. Los resultados encontrados señalan hacia un cambio en las relaciones de género con la emigración que puede repercutir desfavorablemente sobre la salud física y psíquica de la mujer.


The migratory processes imply a gender differentiation ranging from the decision to migrate to the different options for incorporation into the welcoming societies. On the other hand, migration is one of the responsible forces for a change in gender relationships. The objective of this paper was to analyze gender differences in two immigrant populations living in Madrid . From a population of 96 Maghrebian women and 125 Latin American women, we selected those who had or had had a stable couple. Differences between spouses as to age at marriage, schooling, access to work and working sectors in their respective countries of origin and in Spain as well as the impact of migration were also analyzed. Greater differences between spouses were found in the Maghrebian population and a greater access to work market for the immigrant women living in Spain. The results pointed to a shift in gender relationships in the context of migration that might negatively affect physical and psychical health of women.

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