DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes

PMCID: PMC3708787This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Genome-wide associations for birth weight and correlations with adult disease

Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular disease1. These life-course associations have often been attributed to the impact of an adverse early life environment. Here, we performed a multi-ancestry genome-wide association study (GWAS) meta-analysis of BW in 153,781 individuals, identifying 60 loci where fetal genotype was associated with BW (P < 5 × 10−8). Overall, approximately 15% of variance in BW was captured by assays of fetal genetic variation. Using genetic association alone, we found strong inverse genetic correlations between BW and systolic blood pressure (Rg = −0.22, P = 5.5 × 10−13), T2D (Rg = −0.27, P = 1.1 × 10−6) and coronary artery disease (Rg = −0.30, P = 6.5 × 10−9). In addition, using large -cohort datasets, we demonstrated that genetic factors were the major contributor to the negative covariance between BW and future cardiometabolic risk. Pathway analyses indicated that the protein products of genes within BW-associated regions were enriched for diverse processes including insulin signalling, glucose homeostasis, glycogen biosynthesis and chromatin remodelling. There was also enrichment of associations with BW in known imprinted regions (P = 1.9 × 10−4). We demonstrate that life-course associations between early growth phenotypes and adult cardiometabolic disease are in part the result of shared genetic effects and identify some of the pathways through which these causal genetic effects are mediated

Physical activity attenuates the influence of FTO variants on obesity risk : a meta-analysis of 218,166 adults and 19,268 children

BACKGROUND: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies have not been able to confirm this interaction. To confirm or refute unambiguously whether PA attenuates the association of FTO with obesity risk, we meta-analyzed data from 45 studies of adults (n = 218,166) and nine studies of children and adolescents (n = 19,268). METHODS AND FINDINGS: All studies identified to have data on the FTO rs9939609 variant (or any proxy [r(2)>0.8]) and PA were invited to participate, regardless of ethnicity or age of the participants. PA was standardized by categorizing it into a dichotomous variable (physically inactive versus active) in each study. Overall, 25% of adults and 13% of children were categorized as inactive. Interaction analyses were performed within each study by including the FTO×PA interaction term in an additive model, adjusting for age and sex. Subsequently, random effects meta-analysis was used to pool the interaction terms. In adults, the minor (A-) allele of rs9939609 increased the odds of obesity by 1.23-fold/allele (95% CI 1.20-1.26), but PA attenuated this effect (p(interaction)  = 0.001). More specifically, the minor allele of rs9939609 increased the odds of obesity less in the physically active group (odds ratio  = 1.22/allele, 95% CI 1.19-1.25) than in the inactive group (odds ratio  = 1.30/allele, 95% CI 1.24-1.36). No such interaction was found in children and adolescents. CONCLUSIONS: The association of the FTO risk allele with the odds of obesity is attenuated by 27% in physically active adults, highlighting the importance of PA in particular in those genetically predisposed to obesity.Peer reviewe

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Peer reviewe

Live at Restaurang Valdino, Studio Acusticum

From David Myhr's blog:I’m happy to announce that a date for my first live show ever as a solo artist has been set!It will take place in my birthtown Piteå in the north of Sweden on April 8, 2011. The venue is called Restaurang Valdino Acusticum and normally serves as a lunch restaurant for people working at Department of Art, Communication and Education at Luleå University of Technology (less formally known as “The School of Music in Piteå”). Speaking of which, I am one of those people! More on that in a future blog post…Anyway – this evening the restaurant will change into a cool, hip and happening, and at the same time cosy rock club for one evening and I’m looking forward to playing the majority of the songs from my upcoming solo debut album Soundshine, including of course the first single that came out a couple of weeks ago – Got you where he wanted.The same evening people will have the opportunity to enjoy a live performance by Andreas Mattsson who just like me is releasing a solo album this year, and just like me is returning to his former home town Piteå for this occasion. Mattsson used to be in the brilliant band Popsicle which was highly influential on the Swedish 90′s indie pop scene. A true master of pop! I’ve followed Andreas myself ever since he sang and wrote the song “Naiv pop” with his first(?) band X-akt on a compilation album with bands from Piteå (“Ripp-Rocks skiva”) in the early 80′s but of course also through the 90′s in Popsicle a band which was also influenced the Merrymakers to some extent. Their big hit was “Not forever”.Andreas has also contributed with a lyric for a melody I wrote in Nashville together with the American songwriter Ian Eskelin. The song is called “Looking for a life” and will of course be included in my live set. It’s one of the highlights on the coming album and there’s even a rumour in my head(!) that it might be the next single. Speaking of co-writing by the way, Andreas has a gifted brother called Fredrik who is a friend of mine since many years and he has also been involved in a song on the album, this one called “Cut to the chase”.For this “historic” first live performance I have just put together an absolutely wonderful backing band which consists of the marvelously talented and inspiring Andreas Dahlbäck on drums, who also plays on (and has acted as my co-producer for) Soundshine. On the bass we will find Erik Jonsson who’s a new aquantaince of mine. As I write this I haven’t even met him. But I have seen him in action on YouTube with his cool band The Fix so I know his a great bass player. Banging the piano, wurlitzer and mastering the syntheziers you will find Joel Sjödin from a great band called Mankind. I had the pleasure of getting to know Joel a few years ago while he was a student at the studio musicians program (mentioned above) and now is a good friend of mine. Lastly on guitar I have the pleasure of introducing the Piteå audience to the very gifted and tasteful Krille Eriksson.Apart from being my first live show ever as a solo artist it’s also the first live gig with my original material since 2007 when we made the last two performances with the Merrymakers, one of them being in Valencia, Spain, and my mysterious one-off show at Club Wonder in Osaka, Japan, in november 2009.Hope to see you there at this evening of pure pop for now people!Godkänd; 2011; 20111202 (davmyh)</p

Common variants associated with plasma triglycerides and risk for coronary artery disease

Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD