Genetic Characterization of Physical Activity Behaviours in University Students Enrolled in Kinesiology Degree Programs

Studies of physical activity behaviours have increasingly shown the importance of heritable factors such as genetic variation. Non-synonymous polymorphisms of alpha-actinin 3 (ACTN3) and the β-adrenergic receptors 1 and 3 (ADRB) have been previously associated with exercise capacity and cardiometabolic health. We thus hypothesized that these polymorphisms are also related to physical activity behaviors in young adults. To test this hypothesis we examined relationships between ACTN3 (R577X), ARDB1 (Arg389Gly) and ADRB3 (Trp64Arg), and physical activity behaviors in university students. We stratified for student enrollment in kinesiology degree programs compared to non-majors as we previously found this to be a predictor of physical activity. We did not identify novel associations between physical activity and ACTN3. However, the minor alleles of ADRB1 and ADRB3 were significantly underrepresented in kinesiology students compared to non-majors. Furthermore, carriers of the ADRB1 minor allele reported reduced participation in moderate physical activity and increased afternoon fatigue compared to ancestral allele homozygotes. Together, these findings suggest that the heritability of physical activity behaviours in young adults may be linked to non-synonymous polymorphisms within β-adrenergic receptors.The accepted manuscript in pdf format is listed with the files at the bottom of this page. The presentation of the authors' names and (or) special characters in the title of the manuscript may differ slightly between what is listed on this page and what is listed in the pdf file of the accepted manuscript; that in the pdf file of the accepted manuscript is what was submitted by the author

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted sequencing of 205 genes for 2,105 CRC cases with survival data. Our data shows several findings in addition to enhancing the existing knowledge of CRC. We identify PRKCI, SPZ1, MUTYH, MAP2K4, FETUB, and TGFBR2 as additional genes significantly mutated in CRC. We find that among hypermutated tumors, an increased mutation burden is associated with improved CRC-specific survival (HR=0.42, 95% CI: 0.21-0.82). Mutations in TP53 are associated with poorer CRC-specific survival, which is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR=1.53, 95% CI: 1.21-1.94). Furthermore, we observe differences in mutational frequency of several genes and pathways by tumor location, stage, and sex. Overall, this large study provides deep insights into somatic mutations in CRC, and their potential relationships with survival and tumor features. Large scale sequencing study is of paramount importance to unravel the heterogeneity of colorectal cancer. Here, the authors sequenced 205 cancer genes in more than 2000 tumours and identified additional mutated driver genes, determined that mutational burden and specific mutations in TP53 are associated with survival odds

Genetic architectures of proximal and distal colorectal cancer are partly distinct.

OBJECTIVE: An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations and the discovery of novel drug targets and repurposable drug candidates for chemoprevention. Known differences in molecular characteristics and environmental risk factors among tumors arising in different locations of the colorectum suggest partly distinct mechanisms of carcinogenesis. The extent to which the contribution of inherited genetic risk factors for CRC differs by anatomical subsite of the primary tumor has not been examined. DESIGN: To identify new anatomical subsite-specific risk loci, we performed genome-wide association study (GWAS) meta-analyses including data of 48 214 CRC cases and 64 159 controls of European ancestry. We characterised effect heterogeneity at CRC risk loci using multinomial modelling. RESULTS: We identified 13 loci that reached genome-wide significance (p<5×10-8) and that were not reported by previous GWASs for overall CRC risk. Multiple lines of evidence support candidate genes at several of these loci. We detected substantial heterogeneity between anatomical subsites. Just over half (61) of 109 known and new risk variants showed no evidence for heterogeneity. In contrast, 22 variants showed association with distal CRC (including rectal cancer), but no evidence for association or an attenuated association with proximal CRC. For two loci, there was strong evidence for effects confined to proximal colon cancer. CONCLUSION: Genetic architectures of proximal and distal CRC are partly distinct. Studies of risk factors and mechanisms of carcinogenesis, and precision prevention strategies should take into consideration the anatomical subsite of the tumour

Exploring genetic variation in reef-building corals from the cellular to the species level

In this dissertation, I investigated biological mechanisms by which reef-building corals (Orbicella faveolata, Acropora millepora, and Acropora hyacinthus) can mitigate the effects of projected increases in sea surface temperatures. Utilizing genomic techniques, I provide new insights about coral biology relevant for predicting responses to climate change. Here I present three major findings: 1) The Caribbean coral Orbicella faveolata has a segregated germline that prevents inheritance of somatic mutations 2) Molecular adaptation of corals collected from a high-temperature reef strongly depends on the type of symbionts that they host 3) Co-recruitment of relatives via cohesive dispersal can lead to emergence of genetic subdivisions amidst an otherwise panmictic coral population.Ecology, Evolution and Behavio

Convergence : mensuel de la solidarité / Secours populaire français ; dir. publ. Julien Lauprêtre ; réd. Antonio Garcia, Valmont Ponceau

janvier 19861986/01 (N47)-1986/01.Appartient à l’ensemble documentaire : UnivJeun

Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs

© 2017, Canadian Science Publishing. All rights reserved. Studies of physical activity behaviours have increasingly shown the importance of heritable factors such as genetic variation. Nonsynonymous polymorphisms of alpha-actinin 3 (ACTN3) and the β-adrenergic receptors 1 and 3 (ADRB1 and ADRB3) have been previously associated with exercise capacity and cardiometabolic health. We thus hypothesized that these polymorphisms are also related to physical activity behaviours in young adults. To test this hypothesis we examined relationships between ACTN3 (R577X), ARDB1 (Arg389Gly), ADRB3 (Trp64Arg), and physical activity behaviours in university students. We stratified for student enrollment in kinesiology degree programs compared with nonmajors as we previously found this to be a predictor of physical activity. We did not identify novel associations between physical activity and ACTN3. However, the minor alleles of ADRB1 and ADRB3 were significantly underrepresented in kinesiology students compared with nonmajors. Furthermore, carriers of the ADRB1 minor allele reported reduced participation in moderate physical activity and increased afternoon fatigue compared with ancestral allele homozygotes. Together, these findings suggest that the heritability of physical activity behaviours in young adults may be linked to nonsynonymous polymorphisms within β-adrenergic receptors

Injury: A Major Cause of Pregnancy-Associated Morbidity in Massachusetts

Hospital visits (inpatient, observation, and emergency department) for injury occurring during pregnancy and 1 year postpartum (the pregnancy-associated period) were examined to determine groups at risk for injuries. The dataset included maternally linked vital records and hospital visit data for a population-based cohort of women residing in Massachusetts who delivered between 2002 and 2003 (n = 100,051). Injury morbidity (injury visits with International Classification of Diseases, Ninth Revision, Clinical Modification codes 800–999.99 or selected E-codes) was evaluated by individual woman- and visit-based analyses. Overall, one in seven women sought hospital care for pregnancy-associated injuries, and rates were as high as one in four for some subgroups. Most pregnancy-associated injury visits (91%) occurred in emergency departments. More than 4% of women had a motor vehicle collision, which was the leading cause of injury. The risk for injury was significantly higher among women who were adolescents (relative risk [RR] = 1.88; 95% confidence interval [CI], 1.78–1.98), black non-Hispanic (RR = 1.88; 95% CI, 1.80–1.97), those who had public insurance (RR = 2.50; 95% CI, 2.41–2.56), or those who had less than a high school education (RR = 2.48; 95% CI, 2.39–2.58) when compared with referent groups. Clinical guidelines for preconception and pregnancy-associated periods should include recommendations for injury history assessment and preventative counseling for women