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- Graff, M., et al.
(författare)
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Genome-wide physical activity interactions in adiposity. A meta-analysis of 200,452 adults
- 2017
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Ingår i: PLoS Genet. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 13:4
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Tidskriftsartikel (refereegranskat)abstract
- Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by similar to 30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.
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- Chauvin, G., et al.
(författare)
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Investigating the young solar system analog HD 95086 A combined HARPS and SPHERE exploration
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 617
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Tidskriftsartikel (refereegranskat)abstract
- Context. HD 95086 (A8V, 17 Myr) hosts a rare planetary system for which a multi-belt debris disk and a giant planet of 4-5 Mjup have been directly imaged.Aims. Our study aims to characterize the global architecture of this young system using the combination of radial velocity and direct imaging observations. We want to characterize the physical and orbital properties of HD 95086 b, search for additional planets at short and wide orbits and image the cold outer debris belt in scattered light.Methods. We used HARPS at the ESO 3.6 m telescope to monitor the radial velocity of HD 95086 over two years and investigate the existence of giant planets at less than 3 au orbital distance. With the IRDIS dual-band imager and the IFS integral field spectrograph of SPHERE at VLT, we imaged the faint circumstellar environment beyond 10 au at six epochs between 2015 and 2017.Results. We do not detect additional giant planets around HD 95086. We identify the nature (bound companion or background contaminant) of all point-like sources detected in the IRDIS field of view. None of them correspond to the ones recently discovered near the edge of the cold outer belt by ALMA. HD 95086 b is resolved for the first time in J-band with IFS. Its near-infrared spectral energy distribution is well fitted by a few dusty and/or young L7-L9 dwarf spectral templates. The extremely red 1-4 mu m spectral distribution is typical of low-gravity objects at the L/T spectral type transition. The planet's orbital motion is resolved between January 2015 and May 2017. Together with past NaCo measurements properly re-calibrated, our orbital fitting solutions favor a retrograde low to moderate-eccentricity orbit e = 0.2(-0.2)(+0.3), with a semi-major axis similar to 52 au corresponding to orbital periods of similar to 288 yr and an inclination that peaks at i = 141 degrees, which is compatible with a planet-disk coplanar configuration. Finally, we report the detection in polarimetric differential imaging of the cold outer debris belt between 100 and 300 au, consistent in radial extent with recent ALMA 1.3 mm resolved observations.
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- Demenais, F, et al.
(författare)
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Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study.
- 2010
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 102, s. 1568-1583
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Tidskriftsartikel (refereegranskat)abstract
- Background Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes, and some variants of the melanocortin-1 receptor gene (MC1R), which is known to have a role in the pigmentation process. However, investigation of the associations of both MC1R variants and host phenotypes with melanoma risk has been limited. Methods We included 815 CDKN2A mutation carriers (473 affected, and 342 unaffected, with melanoma) from 186 families from 15 centers in Europe, North America, and Australia who participated in the Melanoma Genetics Consortium. In this family-based study, we assessed the associations of the four most frequent MC1R variants (V60L, V92M, R151C, and R160W) and the number of variants (1, ≥2 variants), alone or jointly with the host phenotypes (hair color, propensity to sunburn, and number of nevi), with melanoma risk in CDKN2A mutation carriers. These associations were estimated and tested using generalized estimating equations. All statistical tests were two-sided. Results Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007). A consistent pattern of increase in melanoma risk was also associated with increase in number of MC1R variants. The risk of melanoma associated with at least two MC1R variants was 2.6-fold higher than the risk associated with only one variant (odds ratio = 5.83 [95% confidence interval = 3.60 to 9.46] vs 2.25 [95% confidence interval = 1.44 to 3.52]; P(trend) = 1.86 × 10(-8)). The joint analysis of MC1R variants and host phenotypes showed statistically significant associations of melanoma risk, together with MC1R variants (.0001 ≤ P ≤ .04), hair color (.006 ≤ P ≤ .06), and number of nevi (6.9 × 10(-6) ≤ P ≤ .02). Conclusion Results show that MC1R variants, hair color, and number of nevi were jointly associated with melanoma risk in CDKN2A mutation carriers. This joint association may have important consequences for risk assessments in familial settings.
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