scholarly journals On Naevi and Melanomas: Two Sides of the Same Coin?

2021 ◽  
Vol 8 ◽  
Author(s):  
Katie J. Lee ◽  
Monika Janda ◽  
Mitchell S. Stark ◽  
Richard A. Sturm ◽  
H. Peter Soyer
Keyword(s):  
Environmental Influence ◽  
Treatment Strategies ◽  
Clinical Genetics ◽  
Risk Variants ◽  
Shared Environmental Influence ◽  
Genetic Overlap ◽  
Total Body ◽  
Prevention Counseling ◽  
Two Sides ◽  
Deep Phenotyping

Benign naevi are closely linked to melanoma, as risk factors, simulators, or sites of melanoma formation. There is a heavy genetic overlap between the two lesions, a shared environmental influence of ultraviolet radiation, and many similar cellular features, yet naevi remain locally situated while melanomas spread from their primary site and may progress systemically to distal organs. Untangling the overlapping contributors and predictors of naevi and melanoma is an ongoing area of research and should eventually lead to more personalized prevention and treatment strategies, through the development of melanoma risk stratification tools and early detection of evolving melanomas. This will be achieved through a range of complementary strategies: risk-adjusted primary prevention counseling; the use of lesion imaging technologies such as sequential 3D total body photography and consumer-performed lesion imaging; artificial intelligence deep phenotyping and clinical assistance; a better understanding of genetic drivers of malignancy, risk variants, clinical genetics, and polygenic effects; and the interplay between genetics, phenotype and the environment.

scholarly journals Perceived Family Cohesion Moderates Environmental Influences on Prosocial Behavior in Nigerian Adolescent Twins

2017 ◽  
Vol 20 (3) ◽  
pp. 226-235 ◽  
Author(s):  
Yoon-Mi Hur ◽  
Jeanette Taylor ◽  
Hoe-Uk Jeong ◽  
Min-Seo Park ◽  
Brett C. Haberstick
Keyword(s):  
Public Schools ◽  
Prosocial Behavior ◽  
Family Environment ◽  
Family Cohesion ◽  
Environmental Influence ◽  
Environmental Influences ◽  
Twin Studies ◽  
Environment Interaction ◽  
Shared Environmental Influence ◽  
Sex Limitation

Research shows that perceived family cohesion is positively related to prosocial behavior in adolescents. In this study, we investigated heritability of prosocial behavior (PB) and perceived family cohesion (FC) among Nigerian twins attending public schools in Lagos State, Nigeria (mean age = 14.7 years, SD = 1.7 years), and explored the issue of whether children's perception of cohesive family environment moderated genetic and environmental influences on (PB). The PB scale of the Strengths and Difficulties Questionnaire and the FC scale of the Family Adaptability and Cohesion Evaluation Scale III were completed by 2,376 twins (241 monozygotic (MZ) male, 354 MZ female, 440 dizygotic (DZ) male, 553 DZ female, and 788 opposite-sex DZ twins). A general sex-limitation and the bivariate genotype by environment interaction (G×E) models were applied to the data. The general sex-limitation model showed no significant sex differences, indicating that additive genetic and non-shared environmental influences were, 38% (95% CI = 31, 46) and 62% (95% CI = 54, 69) for PB and 33% (95% CI = 24, 40) and 67% (95% CI = 60, 76) for FC in both sexes. These estimates were similar to those found in Western and Asian twin studies to date. The correlation between PB and FC was 0.36. The best-fitting bivariate G×E model indicated that FC significantly moderated non-shared environmental influence unique to PB (E×E interaction). Specifically, non-shared environmental contributions to PB were highest when FC was lowest, and decreased as the levels of FC increased. However, genetic variances in PB were stable across all levels of FC. These findings suggest that FC reduces individual differences in PB by changing non-shared environmental experiences rather than genetic factors in PB.

scholarly journals Social Integration and Sleep Disturbance: A Gene-Environment Interaction Study

Collabra ◽  
2016 ◽  
Vol 2 (1) ◽  
Author(s):  
David A. Sbarra
Keyword(s):  
Social Integration ◽  
Sleep Disturbance ◽  
Environmental Influence ◽  
Causal Effect ◽  
Environmental Influences ◽  
The United States ◽  
Environment Interaction ◽  
Increased Risk ◽  
Shared Environmental Influence ◽  
Low Levels

Objective: Low levels of perceived social integration, or loneliness, are associated with increased risk for a range of poor health outcomes. Sleep disturbance plays a central role in the evolutionary theory of loneliness, which provides a mechanistic account of how low levels of social integration may negatively impact health. No studies, however, have examined whether the association between social integration and sleep disturbance is consistent with a causal effect after accounting for genes that are common to both variables. Method: Using twin data (N = 905 twin pairs) from the nationally-representative Midlife in the United States (MIDUS) survey, I evaluated a series of bivariate twin models exploring whether the phenotypic association between low social integration and sleep disturbance can be explained by shared genetics. In addition, the current study specified a series of quantitative models for studying gene x environment (G X E) interactions to determine whether the genetic and environmental influences on sleep disturbance differ as a function of social integration. Results: The phenotypic association between social integration and sleep disturbance was fully accounted for by genes that are common between the two variables, suggesting that within-twin pair differences in social integration do not exert a causal influence on sleep disturbance. Social integration, however, moderated the non-shared environmental influence on sleep disturbances, with the greatest environmental influences observed at the lowest levels of social integration. Conclusions: The results of this study suggest that an essential feature of the evolutionary model of loneliness may need refinement or elaboration. The moderation findings are discussed in terms of the fit with a stress-buffering model of social support in which environmental influences on sleep disturbance are strongest when social resources are low.

scholarly journals Genetic and environmental influence on the human functional connectome

2018 ◽  
Author(s):  
Andrew E. Reineberg ◽  
Alexander S. Hatoum ◽  
John K. Hewitt ◽  
Marie T. Banich ◽  
Naomi P. Friedman
Keyword(s):  
Cognitive Abilities ◽  
Environmental Influence ◽  
Brain Connectivity ◽  
Brain Regions ◽  
Genetic Influence ◽  
Functional Connections ◽  
Functional Connectome ◽  
Intermediate Phenotypes ◽  
Human Connectome Project ◽  
Shared Environmental Influence

AbstractDetailed mapping of genetic and environmental influences on the functional connectome is a crucial step toward developing intermediate phenotypes between genes and clinical diagnoses or cognitive abilities. We analyze resting-state data from two, adult twin samples - 390 twins from the Colorado Longitudinal Twin Sample and 422 twins from the Human Connectome Project - to examine genetic and environmental influence on all pairwise functional connections between 264 brain regions (~35,000 functional connections). Non-shared environmental influence was high, genetic influence was moderate, and shared environmental influence was weak-to-moderate across the connectome. The brain’s genetic organization is diverse and not as one would expect based solely on structure evident in non-genetically informative data or lower-resolution data. As follow-up, we make novel classifications of functional connections and examine highly-localized connections with particularly strong genetic influence. This high-resolution genetic taxonomy of brain connectivity will be useful in understanding genetic influences on brain disorders.

scholarly journals Genetic and Environmental Influence on the Human Functional Connectome

2019 ◽  
Vol 30 (4) ◽  
pp. 2099-2113
Author(s):  
Andrew E Reineberg ◽  
Alexander S Hatoum ◽  
John K Hewitt ◽  
Marie T Banich ◽  
Naomi P Friedman
Keyword(s):  
Resting State ◽  
Environmental Influence ◽  
Brain Regions ◽  
Genetic Influence ◽  
Genetic Influences ◽  
Imaging Data ◽  
Functional Connections ◽  
Functional Connectome ◽  
Intermediate Phenotypes ◽  
Shared Environmental Influence

Abstract Detailed mapping of genetic and environmental influences on the functional connectome is a crucial step toward developing intermediate phenotypes between genes and clinical diagnoses or cognitive abilities. We analyzed resting-state functional magnetic resonance imaging data from two adult twin samples (Nos = 446 and 371) to quantify genetic and environmental influence on all pairwise functional connections between 264 brain regions (~35 000 functional connections). Nonshared environmental influence was high across the whole connectome. Approximately 14–22% of connections had nominally significant genetic influence in each sample, 4.6% were significant in both samples, and 1–2% had heritability estimates greater than 30%. Evidence of shared environmental influence was weak. Genetic influences on connections were distinct from genetic influences on a global summary measure of the connectome, network-based estimates of connectivity, and movement during the resting-state scan, as revealed by a novel connectome-wide bivariate genetic modeling procedure. The brain’s genetic organization is diverse and not as one would expect based solely on structure evident in nongenetically informative data or lower resolution data. As follow-up, we make novel classifications of functional connections and examine highly localized connections with particularly strong genetic influence. This high-resolution genetic taxonomy of brain connectivity will be useful in understanding genetic influences on brain disorders.

scholarly journals Risks and Function of Breast Cancer Susceptibility Alleles

Cancers ◽  
2021 ◽  
Vol 13 (16) ◽  
pp. 3953
Author(s):  
Saeideh Torabi Dalivandan ◽  
Jasmine Plummer ◽  
Simon A. Gayther
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Disease Risk ◽  
Cancer Susceptibility ◽  
Association Studies ◽  
Treatment Strategies ◽  
Polygenic Risk Score ◽  
Genome Wide Association Studies ◽  
Degree Relative ◽  
Risk Variants

Family history remains one of the strongest risk factors for breast cancer. It is well established that women with a first-degree relative affected by breast cancer are twice as likely to develop the disease themselves. Twins studies indicate that this is most likely due to shared genetics rather than shared epidemiological/lifestyle risk factors. Linkage and targeted sequencing studies have shown that rare high- and moderate-penetrance germline variants in genes involved in the DNA damage response (DDR) including BRCA1, BRCA2, PALB2, ATM, and TP53 are responsible for a proportion of breast cancer cases. However, breast cancer is a heterogeneous disease, and there is now strong evidence that different risk alleles can predispose to different subtypes of breast cancer. Here, we review the associations between the different genes and subtype-specificity of breast cancer based on the most comprehensive genetic studies published. Genome-wide association studies (GWAS) have also been used to identify an additional hereditary component of breast cancer, and have identified hundreds of common, low-penetrance susceptibility alleles. The combination of these low penetrance risk variants, summed as a polygenic risk score (PRS), can identify individuals across the spectrum of disease risk. However, there remains a substantial bottleneck between the discovery of GWAS-risk variants and their contribution to tumorigenesis mainly because the majority of these variants map to the non-protein coding genome. A range of functional genomic approaches are needed to identify the causal risk variants and target susceptibility genes and establish their underlying role in disease biology. We discuss how the application of these multidisciplinary approaches to understand genetic risk for breast cancer can be used to identify individuals in the population that may benefit from clinical interventions including screening for early detection and prevention, and treatment strategies to reduce breast cancer-related mortalities.

scholarly journals Risk Factors Influencing Smoking Behavior: A Turkish Twin Study

2014 ◽  
Vol 17 (6) ◽  
pp. 563-573 ◽  
Author(s):  
Sevgi Yurt Öncel ◽  
Danielle M. Dick ◽  
Hermine H. Maes ◽  
Fazil Alıev
Keyword(s):  
Environmental Factors ◽  
Nicotine Dependence ◽  
Twin Study ◽  
Genetic Factors ◽  
Structural Equation Models ◽  
Environmental Influence ◽  
Smoking Behavior ◽  
Smoking Initiation ◽  
Smoking History ◽  
Shared Environmental Influence

Aim: In this study, we introduce the first twin study in Turkey, focusing on smoking behavior, and laying the foundation to register all twins born in Turkey for research purposes. Using Turkish twins will contribute to our understanding of health problems in the context of cultural differences. Materials and methods: We assessed 309 twin pairs (339 males and 279 females) aged between 15 and 45 years living in the Kırıkkale and Ankara regions of Turkey, and administered a health and lifestyle interview that included questions about smoking status and smoking history. We analyzed the data using descriptive statistics, t-tests, chi-square tests, and bivariate and multivariate clustered logistic regression. In addition, we fit bivariate Structural Equation Models (SEM) to determine contributions of latent genetic and environmental factors to smoking outcomes in this sample. Results: One hundred seventy-eight participants (28.8%) were identified as smokers, smoking every day for a month or longer, of whom 79.2% were males and 20.8% were females. Mean values for number of cigarettes per day and the Fagerstrom Test of Nicotine Dependence (FTND; Fagerstrom, 1978) score were higher in males than in females, and age of onset was earlier in males. There was a significant positive correlation between the FTND score and number of cigarettes smoked per day, and a significant negative correlation between both variables and age at onset of smoking. Our study showed that gender, presence of a smoking twin in the family, age, alcohol use, marital status, daily sports activities, and feeling moody all played a significant role in smoking behavior among twins. The twin analysis suggested that 79.5% of the liability to FTND was influenced by genetic factors and 20.5% by unique environment, while familial resemblance for smoking initiation was best explained by common environmental factors. Conclusions: Marked differences in the prevalence of smoking behavior in men versus women were observed for the Turkish population. Genetic analyses showed that common environmental factors primarily contributed to smoking initiation, while genetic factors explained a greater proportion of variance in liability to nicotine dependence. Our study shows higher heritability estimate of the FTND scores and higher shared environmental influence on smoking initiation for both males and females than reported in previous studies.

scholarly journals Current practice in total-body irradiation: results of a Canada-wide survey

2017 ◽  
Vol 24 (3) ◽  
pp. 181 ◽  
Author(s):  
R.C.N. Studinski ◽  
D.J. Fraser ◽  
R.S. Samant ◽  
M.S. MacPherson
Keyword(s):  
Total Body Irradiation ◽  
Best Practice ◽  
Current Practice ◽  
Organs At Risk ◽  
Treatment Strategies ◽  
Marrow Transplant ◽  
Treatment Delivery ◽  
Current State ◽  
Total Body ◽  
Question Survey

Background Total-body irradiation (tbi) is used to condition patients before bone marrow transplant. A variety of tbi treatment strategies have been described and implemented, but no consensus on best practice has been reached. We report on the results of a survey created to assess the current state of tbi delivery in Canada.Results A 19-question survey was distributed to 49 radiation oncology programs in Canada. Responses were received from 20 centres, including 12 centres that perform tbi. A variety of tbi dose prescriptions was reported, although 12 Gy in 6 fractions was used in 11 of the 12 centres performing tbi. Half of the centres also reported using a dose prescription unique to their facility.Most centres use an extended-distance parallel-opposed-pair technique, with the patient standing or lying on a stretcher against a wall. Others translate the patient under the beam, sweep the beam over the patient, or use a more complicated multi-field technique. All but 1 centre indicated that they attenuate the lung dose; only 3 centres indicated attenuating the dose for other organs at risk. The survey also highlighted the considerable resources used for tbi, including extra staff, prolonged planning and treatment times, and use of locally developed hardware or software.Conclusions At transplant centres, tbi is commonly used, but there is no commonly accepted approach to planning and treatment delivery. The important discrepancies in practice between centres in Canada creates an opportunity to prompt more discussion and collaboration between centres, improving consistency and uniformity of practice.

scholarly journals No matter Where You Go, There You Are: The Genetic Foundations of Temporal Stability

2014 ◽  
Vol 5 (2) ◽  
pp. 76 ◽  
Author(s):  
Aurelio José Figueredo ◽  
Tomás Cabeza de Baca ◽  
Candace Black
Keyword(s):  
Life History ◽  
Individual Differences ◽  
Environmental Influence ◽  
Temporal Stability ◽  
Life History Strategy ◽  
The United States ◽  
Significant Degree ◽  
Behavior Genetic ◽  
Stability Parameters ◽  
Shared Environmental Influence

We present empirical tests of the stability of individual differences over the lifespan using a novel methodological technique to combine behavior-genetic data from twin dyads with longitudinal measures of life history-related traits (including health and personality) from non-twin samples.  Using data from The Midlife in the United States (MIDUS) Longitudinal Survey, we constructed a series of “hybrid” models that permitted the estimation of both temporal stability parameters and behavior-genetic variance components to determine the contributions of genetic and environmental influences on individual differences.  Our results indicate that changes in a higher-order factor of life history strategy (Super-K, composed of the K-Factor, Covitality, and Personality) over the study period were very small in magnitude and that this temporal stability is under a considerable degree of shared genetic influence and a substantial degree of non-shared environmental influence, but a statistically non-significant degree of shared environmental influence.  Implications and future directions are discussed. DOI:10.2458/azu_jmmss_v5i1_figueredo

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