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1.
Blood Cancer J ; 11(4): 74, 2021 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-33854038

RESUMO

Telomeres are involved in processes like cellular growth, chromosomal stability, and proper segregation to daughter cells. Telomere length measured in leukocytes (LTL) has been investigated in different cancer types, including multiple myeloma (MM). However, LTL measurement is prone to heterogeneity due to sample handling and study design (retrospective vs. prospective). LTL is genetically determined; genome-wide association studies identified 11 SNPs that, combined in a score, can be used as a genetic instrument to measure LTL and evaluate its association with MM risk. This approach has been already successfully attempted in various cancer types but never in MM. We tested the "teloscore" in 2407 MM patients and 1741 controls from the International Multiple Myeloma rESEarch (IMMeNSE) consortium. We observed an increased risk for longer genetically determined telomere length (gdTL) (OR = 1.69; 95% CI 1.36-2.11; P = 2.97 × 10-6 for highest vs. lowest quintile of the score). Furthermore, in a subset of 1376 MM patients we tested the relationship between the teloscore and MM patients survival, observing a better prognosis for longer gdTL compared with shorter gdTL (HR = 0.93; 95% CI 0.86-0.99; P = 0.049). In conclusion, we report convincing evidence that longer gdTL is a risk marker for MM risk, and that it is potentially involved in increasing MM survival.

2.
Artigo em Inglês | MEDLINE | ID: mdl-33827984

RESUMO

BACKGROUND: Given the increased use and diversity of diagnostic procedures, it is important to understand genetic susceptibility to radiation-induced thyroid cancer. METHODS: Based on self-declared diagnostic radiology examination records in addition to existing literature, we estimated the radiation dose delivered to the thyroid gland from diagnostic procedures during childhood and adulthood in two case-control studies conducted in France. A total of 1071 differentiated thyroid cancer (DTC) cases and 1188 controls from the combined studies were genotyped using a custom-made Illumina OncoArray DNA chip. We focused our analysis on variants in genes involved in DNA damage response and repair pathways, representing a total of 5817 single-nucleotide polymorphisms in 571 genes. We estimated the odds ratio per milli-Gray (OR/mGy) of the radiation dose delivered to the thyroid gland using conditional logistic regression. We then used an unconditional logistic regression model to assess the association between DNA repair gene variants and DTC risk. We performed a meta-analysis of the two studies. RESULTS: The OR/mGy was 1.02 (95% CI: 1.00, 1.03). We found significant associations between DTC and rs7164173 in CHD2 (p = 5.79 10-5), rs6067822 in NFATc2 (p = 9.26 10-5), rs1059394 and rs699517 both in ENOSF1/THYS, rs12702628 in RPA3, and an interaction between rs7068306 in MGMT and thyroid radiation doses (p= 3.40 10-4). CONCLUSIONS: Our results suggest a role for variants in CDH2, NFATc2, ENOSF1/THYS, RPA3 and MGMT in DTC risk. IMPACT: CDH2, NFATc2, ENOSF1/THYS and RPA3 have not previously been shown to be associated with DTC risk.

3.
PLoS Comput Biol ; 17(3): e1008819, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33735170

RESUMO

Genome-wide association studies (GWAS) explore the genetic causes of complex diseases. However, classical approaches ignore the biological context of the genetic variants and genes under study. To address this shortcoming, one can use biological networks, which model functional relationships, to search for functionally related susceptibility loci. Many such network methods exist, each arising from different mathematical frameworks, pre-processing steps, and assumptions about the network properties of the susceptibility mechanism. Unsurprisingly, this results in disparate solutions. To explore how to exploit these heterogeneous approaches, we selected six network methods and applied them to GENESIS, a nationwide French study on familial breast cancer. First, we verified that network methods recovered more interpretable results than a standard GWAS. We addressed the heterogeneity of their solutions by studying their overlap, computing what we called the consensus. The key gene in this consensus solution was COPS5, a gene related to multiple cancer hallmarks. Another issue we observed was that network methods were unstable, selecting very different genes on different subsamples of GENESIS. Therefore, we proposed a stable consensus solution formed by the 68 genes most consistently selected across multiple subsamples. This solution was also enriched in genes known to be associated with breast cancer susceptibility (BLM, CASP8, CASP10, DNAJC1, FGFR2, MRPS30, and SLC4A7, P-value = 3 × 10-4). The most connected gene was CUL3, a regulator of several genes linked to cancer progression. Lastly, we evaluated the biases of each method and the impact of their parameters on the outcome. In general, network methods preferred highly connected genes, even after random rewirings that stripped the connections of any biological meaning. In conclusion, we present the advantages of network-guided GWAS, characterize their shortcomings, and provide strategies to address them. To compute the consensus networks, implementations of all six methods are available at https://github.com/hclimente/gwas-tools.

4.
Int J Cancer ; 2021 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-33527407

RESUMO

Incidence of differentiated thyroid carcinoma (DTC) varies considerably between ethnic groups, with particularly high incidence rates in Pacific Islanders. DTC is one of the cancers with the highest familial risk suggesting a major role of genetic risk factors, but only few susceptibility loci were identified so far. In order to assess the contribution of known DTC susceptibility loci and to identify new ones, we conducted a multiethnic genome-wide association study (GWAS) in individuals of European ancestry and of Oceanian ancestry from Pacific Islands. Our study included 1554 cases/1973 controls of European ancestry and 301 cases/348 controls of Oceanian ancestry from seven population-based case-control studies participating to the EPITHYR consortium. All participants were genotyped using the OncoArray-500K Beadchip (Illumina). We confirmed the association with the known DTC susceptibility loci at 2q35, 8p12, 9q22.33 and 14q13.3 in the European ancestry population and suggested two novel signals at 1p31.3 and 16q23.2, which were associated with thyroid-stimulating hormone levels in previous GWAS. We additionally replicated an association with 5p15.33 reported previously in Chinese and European populations. Except at 1p31.3, all associations were in the same direction in the population of Oceanian ancestry. We also observed that the frequencies of risk alleles at 2q35, 5p15.33 and 16q23.2 were significantly higher in Oceanians than in Europeans. However, additional GWAS and epidemiological studies in Oceanian populations are needed to fully understand the highest incidence observed in these populations.

5.
Eur J Health Econ ; 22(2): 223-228, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33386472

RESUMO

OBJECTIVE: The tobacco industry has been reported to employ sex-specific marketing strategies, which include different types of tobacco packaging, publicity, as well as price strategies. We examined whether characteristics associated with the purchase of more expensive cigarette brands varied by sex, in the context of the introduction of plain tobacco packaging and the strengthening of tobacco control policies in France. METHODS: Our study population consists of 1380 regular smokers of manufactured cigarettes from the DePICT study, a nation-wide two-wave survey of French adults aged 18-64 years. Participants were interviewed by telephone in 2016 and 2017. Factors associated with the use of more vs. less expensive cigarette brands were determined by multivariable logistic regression stratified by sex. RESULTS: Several sex-specific factors were associated with the purchase of more expensive cigarette brands. In women, those factors included higher education, cannabis use, and no use of roll-your-own tobacco. While in men purchase of more expensive cigarette brands was linked to younger age, being born outside of France, living with a non-smoker, and attachment to the cigarette brand. DISCUSSION: Factors which predict tobacco purchase patterns are different in women and men, highlighting the need for sex-specific tobacco control initiatives to counter the tobacco industry's gendered marketing.

6.
Int J Cancer ; 148(8): 1895-1909, 2021 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-33368296

RESUMO

Single-nucleotide polymorphisms (SNPs) in over 180 loci have been associated with breast cancer (BC) through genome-wide association studies involving mostly unselected population-based case-control series. Some of them modify BC risk of women carrying a BRCA1 or BRCA2 (BRCA1/2) mutation and may also explain BC risk variability in BC-prone families with no BRCA1/2 mutation. Here, we assessed the contribution of SNPs of the iCOGS array in GENESIS consisting of BC cases with no BRCA1/2 mutation and a sister with BC, and population controls. Genotyping data were available for 1281 index cases, 731 sisters with BC, 457 unaffected sisters and 1272 controls. In addition to the standard SNP-level analysis using index cases and controls, we performed pedigree-based association tests to capture transmission information in the sibships. We also performed gene- and pathway-level analyses to maximize the power to detect associations with lower-frequency SNPs or those with modest effect sizes. While SNP-level analyses identified 18 loci, gene-level analyses identified 112 genes. Furthermore, 31 Kyoto Encyclopedia of Genes and Genomes and 7 Atlas of Cancer Signaling Network pathways were highlighted (false discovery rate of 5%). Using results from the "index case-control" analysis, we built pathway-derived polygenic risk scores (PRS) and assessed their performance in the population-based CECILE study and in a data set composed of GENESIS-affected sisters and CECILE controls. Although these PRS had poor predictive value in the general population, they performed better than a PRS built using our SNP-level findings, and we found that the joint effect of family history and PRS needs to be considered in risk prediction models.

7.
Int J Cancer ; 2020 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-33152124

RESUMO

We evaluated the association between germline genetic variants located within the 3'-untranlsated region (polymorphic 3'UTR, ie, p3UTR) of candidate genes involved in multiple myeloma (MM). We performed a case-control study within the International Multiple Myeloma rESEarch (IMMEnSE) consortium, consisting of 3056 MM patients and 1960 controls recruited from eight countries. We selected p3UTR of six genes known to act in different pathways relevant in MM pathogenesis, namely KRAS (rs12587 and rs7973623), VEGFA (rs10434), SPP1 (rs1126772), IRF4 (rs12211228) and IL10 (rs3024496). We found that IL10-rs3024496 was associated with increased risk of developing MM and with a worse overall survival of MM patients. The variant allele was assayed in a vector expressing eGFP chimerized with the IL10 3'-UTR and it was found functionally active following transfection in human myeloma cells. In this experiment, the A-allele caused a lower expression of the reporter gene and this was also in agreement with the in vivo expression of mRNA measured in whole blood as reported in the GTEx portal. Overall, these data are suggestive of an effect of the IL10-rs3024496 SNP on the regulation of IL10 mRNA expression and it could have clinical implications for better characterization of MM patients in terms of prognosis.

8.
Tob Control ; 2020 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-32747415

RESUMO

BACKGROUND: Recently, France has intensified tobacco control policies which included gradual increase in tobacco product price and the introduction of plain packaging. However, there has been suggestion that cross-border tobacco purchases from neighbouring countries, with lower tobacco prices, will increase. We examine trends in cross-border tobacco purchases among smokers concurrent with the implementation of tobacco control measures between 2016 and 2017. METHODS: Description des Perceptions, Images, et Comportements liés au Tabagisme is a two-wave cross-sectional national telephone survey of French adults aged 18-64 years, which recruited a total of 2167 smokers (2016: n=1238; 2017: n=929). Data were weighted to be representative of the French adult population. The association between study wave and cross-country tobacco purchases was examined across study waves using a multivariable logistic regression model (adjusted ORs: ORa (95% CI)). RESULTS: Less than half (38.5%) of smokers declared cross-border tobacco purchases in the last year, which were mostly done on occasional basis: 22.6% purchased tobacco cross-border once or twice yearly. In 2017, as compared with 2016, cross-border tobacco purchases by French smokers decreased (ORa=0.81, 95% CI 0.68 to 0.98). Other factors associated with cross-border tobacco purchases included sex, and driving distance to a border. CONCLUSION: In France, the increase in tobacco product price and the introduction of plain packaging did not contribute to increasing rates of out-of-country purchases of tobacco products, probably due to the overall decrease in smoking levels. However, a harmonisation of tobacco product prices and plain packaging policies across Europe might further improve tobacco control throughout the continent.

9.
J Affect Disord ; 272: 465-473, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32553390

RESUMO

BACKGROUND: An advantaged socioeconomic position (SEP) and satisfying social support during pregnancy (SSP) have been found to be protective factors of maternal postpartum depression (PDD). An advantaged SEP is also associated with satisfying SSP, making SSP a potential mediator of social inequalities in PPD. SEP, SSP and PPD are associated with migrant status. The aim of this study was to quantify the mediating role of SSP in social inequalities in PPD regarding mother's migrant status. METHODS: A sub-sample of 15,000 mothers from the French nationally-representative ELFE cohort study was used for the present analyses. SEP was constructed as a latent variable measured with educational attainment, occupational grade, employment, financial difficulties and household income. SSP was characterized as perceived support from partner (good relation, satisfying support and paternal leave) and actual support from midwives (psychosocial risk factors assessment and antenatal education). Mediation analyses with multiple mediators, stratified by migrant status were conducted. RESULTS: Study population included 76% of non-migrant women, 12% of second and 12% of first generation migrant. SEP was positively associated with support from partner, regardless of migrant status. Satisfying partner support was associated with a 8 (non-migrant women) to 11% (first generation migrant women) reduction in PPD score. LIMITATIONS: History of depression was not reported. CONCLUSIONS: Partner support could reduce social inequalities in PPD. This work supports the need of interventions, longitudinal and qualitative studies including fathers and adapted to women at risk of PPD to better understand the role of SSP in social inequalities in PPD.

10.
Eur J Public Health ; 30(5): 1001-1006, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32529232

RESUMO

BACKGROUND: Small for gestational age (SGA) birth weight, a risk factor for infant mortality and delayed child development, is associated with maternal educational attainment. Maternal tobacco smoking during pregnancy could contribute to this association. We aimed to quantify the contribution of maternal smoking during pregnancy to social inequalities in child birth weight for gestational age (GA). METHODS: Data come from the French nation-wide ELFE cohort study, which included 17 155 singletons. Birth weights for GA were calculated using z-scores. Associations between maternal educational attainment, tobacco smoking during pregnancy and child birth weight for GA were ascertained using mediation analysis. Mediation analyses were also stratified by maternal pre-pregnancy body mass index. RESULTS: Low maternal educational attainment was associated with an increased odd of tobacco smoking during pregnancy [adjusted OR (ORa) = 2.58 (95% CI 2.34-2.84)] as well as a decrease in child birth weight for GA [RRa = 0.94 (95% CI 0.91-0.98)]. Tobacco smoking during pregnancy was associated with a decrease in offspring birth weight for GA [RRa = 0.73 (95% CI 0.70-0.76)]. Mediation analysis suggests that 39% of the effect of low maternal educational attainment on offspring birth weight for GA was mediated by smoking during pregnancy. A more important direct effect of maternal educational attainment on child birth weight for GA was observed among underweight women [RRa = 0.82 (95% CI 0.72-0.93)]. CONCLUSIONS: The relationship between maternal educational attainment and child birth weight for GA is strongly mediated by smoking during pregnancy. Reducing maternal smoking could lessen the occurrence of infant SGA and decrease socioeconomic inequalities in birth weight for GA.

11.
Int J Soc Psychiatry ; 66(5): 431-441, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32306806

RESUMO

BACKGROUND: Insufficient social support has been intensively studied as a risk factor of postpartum depression (PPD) among mothers. However, to date, no study has examined the role of informal and formal dimensions of social support during pregnancy with regard to joint maternal and paternal depression after birth. AIM: Study associations between insufficient informal and formal support during pregnancy and joint parental PPD. METHODS: Using data from the nationally representative French ELFE (Etude Longitudinale Française depuis l'Enfance) cohort study (N = 12,350), we estimated associations between insufficient informal and formal support received by the mother during pregnancy and joint parental PPD in multi-imputed multivariate multinomial regression models. RESULTS: In 166 couples (1.3%), both parents were depressed. The likelihood of joint parental PPD was increased in case of insufficient informal support (insufficient partner support: odds ratio (OR) = 1.68 (95% confidence interval (CI): 1.57-1.80); frequent quarrels: OR = 1.38 (95% CI: 1.19-1.60)). We also observed associations between formal support during pregnancy and joint parental PPD (early prenatal psychosocial risk assessment: OR = 1.13 (95% CI: 1.05-1.22); antenatal education: OR = 1.13 (95% CI: 1.05-1.23)), which disappeared when analyses were restricted to women with no psychological difficulties during pregnancy. CONCLUSION: Insufficient informal social support during pregnancy appears to predict risk of joint PPD in mothers and fathers and should be identified early on to limit complications and the impact on children.

12.
Addict Behav ; 107: 106393, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32200197

RESUMO

This systematic review seeks to evaluate the efficacy of interventions aimed at preventing unintended pregnancies in women using psychoactive substances. Seven electronic databases (Medline, EMBASE, CINAHL, Web of Science Core Collection, PsycINFO, Cochrane CENTRAL database) were searched in October 2017. Twenty-two articles met our inclusion criteria. Interventions based on behavior change theory yielded an increase in the initiation of effective contraception as compared with provision of written information materials. The effect was more pronounced when the intervention provided on-site contraceptive counseling and free access to birth control. Financial incentives also seemed to effectively increase women's contraception intake. Case management interventions including pregnant and postpartum women with heavy levels of substance use showed promising results in terms of initiation of contraception, but rates of unintended pregnancy over long-term follow-up were nevertheless elevated. Finally, some interventions integrated family planning services into specialized centers taking care of pregnant and postpartum women with substance abuse. However, most studies aimed at postpartum and post-abortion contraception used a non-comparative design and had a number of methodological flaws. The risk of bias in most studies is high. All interventions with a primary or secondary focus on the prevention of unintended pregnancy in women using psychoactive substances short-term improvements in contraception intake, but it is unclear if these effects last or have any impact on unintended pregnancy rates in the long-term.

13.
Cancers (Basel) ; 12(2)2020 01 26.
Artigo em Inglês | MEDLINE | ID: mdl-31991861

RESUMO

Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2-4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.

14.
Subst Use Misuse ; 55(6): 964-972, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31997695

RESUMO

Background: Electronic cigarettes (e-cigarettes) are sold in France since 2010 and have rapidly become popular. However, factors associated with e-cigarette use among young adults are not well known. Methods: We used data from the 2015 French TEMPO community based cohort study, restricted to current and former smokers with data on e-cigarette use (n = 368 adults, 23-41 years). Participants completed a self-administered questionnaire including information on family status, educational attainment, occupation and type of work contract, health problems, alcohol and cannabis use, electronic cigarette use, as well as perceptions of e-cigarettes. Use of traditional tobacco was assessed in 2011 and 2015. Data were analyzed using logistic regression models. Results: Among current and former smokers, 26.9% reported lifetime e-cigarettes use and 15.2% current use. Factors associated with lifetime use were: low socioeconomic position (OR = 2.2; 95% CI = 1.2-4.2), traditional cigarette use (OR associated with smoking in 2011 and 2015 = 13.1; 95% CI = 5.2-32.6) and positive perceptions of e-cigarettes (OR = 4.4; 95% CI = 2.4-8.1) as well as asthma (OR = 2.1; 95% CI = 0.9-4.9) and overweight/obesity (OR = 2.5, 95% CI = 0.9-6.9). Factors associated with current use were traditional cigarette smoking (OR associated with smoking in 2011 and 2015 = 3.9; 95% CI= 1.3-12.2) and positive perceptions of e-cigarettes (OR =4.4; 95% CI = 2.3-8.4). Conclusions: Young adults who use e-cigarettes tend to persist in smoking traditional cigarettes. The conditions under which e-cigarette use can help individuals quit traditional tobacco products remain to be elucidated.

15.
Endocr Relat Cancer ; 26(10): R583-R596, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31476737

RESUMO

The first study establishing exposure to ionizing radiations (IRs) as a risk factor for differentiated thyroid cancer (DTC) was published 70 years ago. Given that radiation exposure causes direct DNA damage, genetic alterations in the different DNA repair mechanisms are assumed to play an important role in long-term IR-induced DNA damage prevention. Individual variations in DNA repair capacity may cause different reactions to damage made by IR exposure. The aim of this review is to recapitulate current knowledge about constitutional genetic polymorphisms found to be significantly associated with DTC occurring after IR exposure. Studies were screened online using electronic databases - only fully available articles, and studies performed among irradiated population or taking radiation exposure as adjustment factors and showing significant results are included. Nine articles were identified. Ten variants in/near to genes in six biological pathways, namely thyroid activity regulations, generic transcription, RET signaling, ATM signaling and DNA repair pathways were found to be associated with radiation-related DTC in these studies. Only seven variants were found to be in interaction with IR exposure in DTC risk. Most of these variants are also associated to sporadic DTC and are not specific to IR-related DTC. In the published studies, no data on children treated with radiotherapy is described. In conclusion, more studies carried out on larger cohorts or on case-control studies with well-documented individual radiation dose estimations are needed to get a comprehensive picture of genetic susceptibility factors involved in radiation-related DTC.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Induzidas por Radiação/genética , Neoplasias da Glândula Tireoide/genética , Reparo do DNA , Humanos , Neoplasias Induzidas por Radiação/metabolismo , Polimorfismo de Nucleotídeo Único , Transdução de Sinais , Glândula Tireoide/metabolismo , Glândula Tireoide/efeitos da radiação , Neoplasias da Glândula Tireoide/metabolismo , Transcrição Genética
16.
Autism Res ; 12(12): 1845-1859, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31373761

RESUMO

A growing body of evidence suggests that children of immigrants may have increased risks of neurodevelopmental disorders. However, evidence based on parent report and on very young children is lacking. We therefore investigated the association between maternal immigrant status and early signs of neurodevelopmental problems in a population-based sample of 2-year-old children using standardized parent-report instruments. We used data from the French representative Étude Longitudinale Française depuis l'Enfance birth cohort, initiated in 2011. The study sample included 9,900 children of nonimmigrant French, 1,403 children of second, and 1,171 children of first generation immigrant women followed-up to age 2 years. Neurodevelopment was assessed using the Modified Checklist for Autism in Toddlers (M-CHAT) and an adaptation of the MacArthur-Bates Communicative Development Inventories (MB-CDI). In fully adjusted linear regression models, maternal immigrant status was associated with M-CHAT scores, with stronger associations in children of first (ß-coefficient: 0.19; 95% CI 0.08-0.29) than second generation immigrants (0.09; 0.01-0.17). This association was especially strong among children of first generation immigrant mothers native of North Africa (vs. nonimmigrant French: 0.33; 0.16-0.49) and French-speaking Sub-Saharan Africa (0.26; 0.07-0.45). MB-CDI scores were lowest among children of first generation immigrant mothers, particularly from mostly non-francophone regions. Children of first generation immigrant mothers were most likely to have simultaneously low MB-CDI and high M-CHAT scores. Our findings suggest that maternal immigrant status is associated with early signs of neurodevelopmental difficulties, with strong variations according to maternal region of origin. Further research is necessary to test whether these associations persist and to determine the underlying mechanisms. Autism Res 2019, 12: 1845-1859. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We asked immigrant and nonimmigrant mothers in France about early signs of neurodevelopmental problems in their 2-year-old children. Overall, we found that children of immigrants may be at higher risk of showing these early warning signs, as compared to children of nonimmigrants. This is in line with previous studies, which were based on doctors' diagnoses at later ages. However, our results differed depending on the mothers' regions of origin. We found the highest risks in children of first generation immigrants from North and French-speaking Sub-Saharan Africa, who also seemed especially at risk of neurodevelopmental problems combined with low language development.


Assuntos
Emigrantes e Imigrantes/estatística & dados numéricos , Mães/estatística & dados numéricos , Transtornos do Neurodesenvolvimento/epidemiologia , Adulto , África/etnologia , Lista de Checagem , Pré-Escolar , Estudos de Coortes , Feminino , França/epidemiologia , Humanos , Idioma , Estudos Longitudinais , Masculino
17.
Prev Med Rep ; 15: 100927, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31321203

RESUMO

Smoking is the major preventable cause of disease and premature death in many countries, including France, where approximately 30% of adults are daily smokers. About 60% of them want to quit, however, long-term smoking cessation rates are low, particularly among individuals with low socio-economic position. The aim of this study is to examine whether motivations for smoking cessation among young adults differ across socio-economic groups. 3 focus groups of smokers and former smokers aged 22-40 years were constituted and conducted in November 2014 in Paris. Data from the focus groups were analyzed thematically and in a cross-cutting manner. Our study shows the existence of social "communities" of smokers, in occupational and festive contexts. In addition, new forms of resistance to public health messages are observed ("neutralization"), particularly among smokers with low socioeconomic position. Finally, stress is often cited as a source of unsuccessful smoking cessation or smoking relapse. Tobacco smoking is a social behavior and is associated with symbolic as well as relational benefits, particularly among smokers who have low socioeconomic position. To be effective, interventions aiming to decrease smoking levels in the population should aim to create group dynamics encouraging smokers to quit and address the physical as well as the psychological consequences of smoking withdrawal.

18.
Hum Mutat ; 40(10): 1781-1796, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31112363

RESUMO

BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review of the published literature and publicly available databases reporting BRCA1/2 PSVs also accessed the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) database to identify African or African descent individuals. Using these data, we inferred which of the BRCA PSVs were likely to be of African continental origin. Of the 43,817 BRCA1/2 PSV carriers in the CIMBA database, 469 (1%) were of African descent. Additional African descent individuals were identified in public databases (n = 291) and the literature (n = 601). We identified 164 unique BRCA1 and 173 unique BRCA2 PSVs in individuals of African ancestry. Of these, 83 BRCA1 and 91 BRCA2 PSVs are of likely or possible African origin. We observed numerous differences in the distribution of PSV type and function in African origin versus non-African origin PSVs. Research in populations of African ancestry with BRCA1/2 PSVs is needed to provide the information needed for clinical management and decision-making in African descent individuals worldwide.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposição Genética para Doença , Variação Genética , Alelos , Feminino , Estudos de Associação Genética , Humanos , Mutação , Vigilância da População
19.
Leuk Lymphoma ; 60(7): 1803-1811, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30633655

RESUMO

Genetic variants in genes acting during the maturation process of immature B-cell to differentiated plasma cell could influence the risk of developing multiple myeloma (MM). During B-cell maturation, several programmed genetic rearrangements occur to increase the variation of the immunoglobulin chains. Class switch recombination (CSR) is one of the most important among these mechanisms. Germline polymorphisms altering even subtly this process could play a role in the etiology and outcome of MM. We performed an association study of 30 genetic variants in the key CSR genes, using 2632 MM patients and 2848 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium, the Heidelberg MM Group and the ESTHER cohort. We found an association between LIG4-rs1555902 and decreased MM risk, which approached statistical significance, as well as significant associations between AICDA-rs3794318 and better outcome. Our results add to our knowledge on the genetic component of MM risk and survival.


Assuntos
Biomarcadores Tumorais/genética , Switching de Imunoglobulina/genética , Mieloma Múltiplo/etiologia , Mieloma Múltiplo/mortalidade , Polimorfismo Genético , Adulto , Idoso , Estudos de Casos e Controles , Estudos de Coortes , Citidina Desaminase/genética , DNA Ligase Dependente de ATP/genética , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Humanos , Ativação Linfocitária , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/patologia , Prognóstico , Taxa de Sobrevida
20.
Tob Control ; 28(e1): e31-e36, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30409812

RESUMO

BACKGROUND: Plain packaging (PP) of tobacco products and increased graphic warnings may contribute to lower attractiveness of smoking, particularly among youths. In France, this policy was introduced on 1 January 2017. We examined changes in smoking-related perceptions and behaviours among a nationwide sample of French adolescents before (2016) and 1 year post (2017) implementation. METHODS: DePICT is a two-wave cross-sectional national telephone survey of adolescents aged 12-17 years per study wave (2016: n=2046 2017: n=1999). All participants reported smoking-related perceptions, as well as ever and current tobacco use. Smokers were also asked about their perceptions of tobacco brands. Data were weighted to be representative of youths in the French population: adjusted prevalence ratios (PRs, 95% CI) estimating changes between the two study waves were calculated using multivariate log-binomial regression models. RESULTS: In 2017, as compared with 2016, French adolescents were more likely to report fear of the consequences of smoking (PR=1.06, 95% CI 1.02 to 1.09) and that smoking is dangerous (PR=1.08, 95% CI 1.05 to 1.11). They were also less likely to report that their friends (PR=0.61, 95% CI 0.54 to 0.70) and family (PR=0.51, 95% CI 0.44 to 0.60) accept smoking. Additionally, smoking initiation significantly decreased (PR=0.96, 95% CI 0.93 to 0.98) and a non-statistically significant drop in current tobacco use was observed (PR=0.93, 95% CI 0.78 to 1.11). Smokers' attachment to their tobacco brand also decreased (PR=0.47, 95% CI 0.30 to 0.73). CONCLUSION: Our findings suggest that PP and increased graphic warnings could contribute to changes in smoking norms and rates among adolescents.


Assuntos
Comportamento do Adolescente/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Rotulagem de Produtos/métodos , Embalagem de Produtos/métodos , Fumar/epidemiologia , Produtos do Tabaco , Adolescente , França/epidemiologia , Humanos , Prevenção do Hábito de Fumar/métodos
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