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- Horikoshi, Momoko, et al.
(författare)
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New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:1
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Tidskriftsartikel (refereegranskat)abstract
- Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
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| 4. |
- Moayyeri, Alireza, et al.
(författare)
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Genetic determinants of heel bone properties : genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:11, s. 3054-3068
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Tidskriftsartikel (refereegranskat)abstract
- Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant (P < 5 x 10(-8)) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 x 10(-14)). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at P < 5 x 10(-6) also had the expected direction of association with any fracture (P < 0.05), including three SNPs with P < 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.
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| 6. |
- Haberle, R. M., et al.
(författare)
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Preliminary interpretation of the REMS pressure data from the first 100 sols of the MSL mission
- 2014
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Ingår i: Journal of Geophysical Research - Planets. - : John Wiley & Sons. - 2169-9097 .- 2169-9100. ; 119:3, s. 440-453
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Tidskriftsartikel (refereegranskat)abstract
- We provide a preliminary interpretation of the Rover Environmental Monitoring Station (REMS) pressure data from the first 100 Martian solar days (sols) of the Mars Science Laboratory mission. The pressure sensor is performing well and has revealed the existence of phenomena undetected by previous missions that include possible gravity waves excited by evening downslope flows, relatively dust-free convective vortices analogous in structure to dust devils, and signatures indicative of the circulation induced by Gale Crater and its central mound. Other more familiar phenomena are also present including the thermal tides, generated by daily insolation variations, and the CO2 cycle, driven by the condensation and sublimation of CO2 in the polar regions. The amplitude of the thermal tides is several times larger than those seen by other landers primarily because Curiosity is located where eastward and westward tidal modes constructively interfere and also because the crater circulation amplifies the tides to some extent. During the first 100 sols tidal amplitudes generally decline, which we attribute to the waning influence of the Kelvin wave. Toward the end of the 100 sol period, tidal amplitudes abruptly increased in response to a nearby regional dust storm that did not expand to global scales. Tidal phases changed abruptly during the onset of this storm suggesting a change in the interaction between eastward and westward modes. When compared to Viking Lander 2 data, the REMS daily average pressures show no evidence yet for the 1-20 Pa increase expected from the possible loss of CO 2 from the south polar residual cap. Key Points REMS pressure sensor is operating nominally New phenomena have been discovered Familiar phenomena have been detected ©2014. American Geophysical Union. All Rights Reserved.
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| 7. |
- Haberle, R. M., et al.
(författare)
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Secular Climate Change on Mars : An Update Using MSL Pressure Data
- 2013
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Konferensbidrag (refereegranskat)abstract
- The South Polar Residual Cap (SPRC) on Mars is an icy reservoir of CO2. If all the CO2 trapped in the SPRC were released to the atmosphere the mean annual global surface pressure would rise by ~20 Pa. Repeated MOC and HiRISE imaging of scarp retreat rates within the SPRC have led to the suggestion that the SPRC is losing mass. Estimates for the loss rate vary between 0. 5 Pa per Mars Decade to 13 Pa per Mars Decade. Assuming 80% of this loss goes directly into the atmosphere, and that the loss is monotonic, the global annual mean surface pressure should have increased between ~1-20 Pa since the Viking mission (19 Mars years ago). Surface pressure measurements by the Phoenix Lander only 2 Mars years ago were found to be consistent with these loss rates. Here we compare surface pressure data from the MSL mission with that from Viking Lander 2 (VL-2) to determine if the trend continues. We use VL-2 because it is at the same elevation as MSL (-4500 m). However, based on the first 100 sols of data there does not appear to be a significant difference between the dynamically adjusted pressures of the two landers. This result implies one of several possibilities: (1) the cap is not losing mass and the difference between the Viking and Phoenix results is due to uncertainties in the measurements; (2) the cap has lost mass between the Viking and Phoenix missions but it has since gone back to the cap or into the regolith; or (3) that our analysis is flawed. The first possibility is real since post-mission analysis of the Phoenix sensor has shown that there is a 3 (±2) Pa offset in the data and there may also be uncertainties in the Viking data. The loss/gain scenario for the cap seems unlikely since scarps continue retreating, and regolith uptake implies something unique about the past several Mars years. That our analysis is flawed is certainly possible owing to the very different environments of the Viking and MSL landers. MSL is at the bottom of a deep crater in the southern tropics (~5°S), whereas VL-2 is at a high latitude (~48°N) in the northern plains. And in spite of the fact that the two landers are at nearly identical elevations, they are in very different thermal environments (e.g., MSL is warm when VL-2 is cold), which can have a significant affect on pressures. For these reasons, our confidence in the comparison will increase as more MSL data become available. We will report the results up through sol 360 at the meeting.
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| 8. |
- Harri, A.-M., et al.
(författare)
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Pressure observations by the Curiosity rover : Initial results
- 2014
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Ingår i: Journal of Geophysical Research - Planets. - : John Wiley & Sons. - 2169-9097 .- 2169-9100. ; 119:1, s. 82-92
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Tidskriftsartikel (refereegranskat)abstract
- REMS-P, the pressure measurement subsystem of the Mars Science Laboratory (MSL) Rover Environmental Measurement Station (REMS), is performing accurate observations of the Martian atmospheric surface pressure. It has demonstrated high data quality and good temporal coverage, carrying out the first in situ pressure observations in the Martian equatorial regions. We describe the REMS-P initial results by MSL mission sol 100 including the instrument performance and data quality and illustrate some initial interpretations of the observed features. The observations show both expected and new phenomena at various spatial and temporal scales, e.g., the gradually increasing pressure due to the advancing Martian season signals from the diurnal tides as well as various local atmospheric phenomena and thermal vortices. Among the unexpected new phenomena discovered in the pressure data are a small regular pressure drop at every sol and pressure oscillations occurring in the early evening. We look forward to continued high-quality observations by REMS-P, extending the data set to reveal characteristics of seasonal variations and improved insights into regional and local phenomena. Key Points The performance and data quality of the REMS / MSL pressure observations. MSL pressure observations exhibit local phenomena of the Gale crater area. Small pressure oscillations possibly linked to gravity waves. ©2013. American Geophysical Union. All Rights Reserved.
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| 9. |
- Qi, Qibin, et al.
(författare)
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FTO genetic variants, dietary intake and body mass index : insights from 177 330 individuals
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:25, s. 6961-6972
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Tidskriftsartikel (refereegranskat)abstract
- FTO is the strongest known genetic susceptibility locus for obesity. Experimental studies in animals suggest the potential roles of FTO in regulating food intake. The interactive relation among FTO variants, dietary intake and body mass index (BMI) is complex and results from previous often small-scale studies in humans are highly inconsistent. We performed large-scale analyses based on data from 177 330 adults (154 439 Whites, 5776 African Americans and 17 115 Asians) from 40 studies to examine: (i) the association between the FTO-rs9939609 variant (or a proxy single-nucleotide polymorphism) and total energy and macronutrient intake and (ii) the interaction between the FTO variant and dietary intake on BMI. The minor allele (A-allele) of the FTO-rs9939609 variant was associated with higher BMI in Whites (effect per allele = 0.34 [0.31, 0.37] kg/m(2), P = 1.9 × 10(-105)), and all participants (0.30 [0.30, 0.35] kg/m(2), P = 3.6 × 10(-107)). The BMI-increasing allele of the FTO variant showed a significant association with higher dietary protein intake (effect per allele = 0.08 [0.06, 0.10] %, P = 2.4 × 10(-16)), and relative weak associations with lower total energy intake (-6.4 [-10.1, -2.6] kcal/day, P = 0.001) and lower dietary carbohydrate intake (-0.07 [-0.11, -0.02] %, P = 0.004). The associations with protein (P = 7.5 × 10(-9)) and total energy (P = 0.002) were attenuated but remained significant after adjustment for BMI. We did not find significant interactions between the FTO variant and dietary intake of total energy, protein, carbohydrate or fat on BMI. Our findings suggest a positive association between the BMI-increasing allele of FTO variant and higher dietary protein intake and offer insight into potential link between FTO, dietary protein intake and adiposity.
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| 10. |
- Gómez-Elvira, J., et al.
(författare)
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REMS : The environmental sensor suite for the Mars Science Laboratory rover
- 2012
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Ingår i: Space Science Reviews. - : Springer Science and Business Media LLC. - 0038-6308 .- 1572-9672. ; 170:1-4, s. 583-640
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Tidskriftsartikel (refereegranskat)abstract
- The Rover Environmental Monitoring Station (REMS) will investigate environmental factors directly tied to current habitability at the Martian surface during the Mars Science Laboratory (MSL) mission. Three major habitability factors are addressed by REMS: the thermal environment, ultraviolet irradiation, and water cycling. The thermal environment is determined by a mixture of processes, chief amongst these being the meteorological. Accordingly, the REMS sensors have been designed to record air and ground temperatures, pressure, relative humidity, wind speed in the horizontal and vertical directions, as well as ultraviolet radiation in different bands. These sensors are distributed over the rover in four places: two booms located on the MSL Remote Sensing Mast, the ultraviolet sensor on the rover deck, and the pressure sensor inside the rover body. Typical daily REMS observations will collect 180 minutes of data from all sensors simultaneously (arranged in 5 minute hourly samples plus 60 additional minutes taken at times to be decided during the course of the mission). REMS will add significantly to the environmental record collected by prior missions through the range of simultaneous observations including water vapor; the ability to take measurements routinely through the night; the intended minimum of one Martian year of observations; and the first measurement of surface UV irradiation. In this paper, we describe the scientific potential of REMS measurements and describe in detail the sensors that constitute REMS and the calibration procedures. © 2012 Springer Science+Business Media B.V.
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