Recent analyses in Greenlandic Inuit identified six genetic polymorphisms (rs74771917, rs3168072, rs12577276, rs7115739, rs174602 and rs174570) in the fatty acid desaturase gene cluster (FADS1-FADS2-F Show more
Recent analyses in Greenlandic Inuit identified six genetic polymorphisms (rs74771917, rs3168072, rs12577276, rs7115739, rs174602 and rs174570) in the fatty acid desaturase gene cluster (FADS1-FADS2-FADS3) that are associated with multiple metabolic and anthropometric traits. Our objectives were to systematically assess whether dietary polyunsaturated fatty acid (PUFA) intake modifies the associations between genetic variants in the FADS gene cluster and cardiometabolic traits, and to functionally annotate top-ranking candidates to estimate their regulatory potential. Data analyses consisted of the following: interaction analyses between the 6 candidate genetic variants and dietary PUFA intake; gene-centric joint analyses to detect interaction signals in the FADS region; haplotype-centric joint tests across 30 haplotype blocks in the FADS region to refine interaction signals; and functional annotation of top-ranking loci from the previous steps. These analyses were undertaken in Swedish adults from the GLACIER Study (N = 5,160); data on genetic variation and eight cardiometabolic traits were used. Interactions were observed between rs174570 and n-6 PUFA intake on fasting glucose (P The association between FADS variants and triglycerides may be modified by PUFA intake. The intronic FADS2 rs5792235 variant is a potential causal variant in the region, having the highest regulatory potential. However, our results suggest that multiple haplotypes may harbour functional variants in a region, rather than a single causal variant. Show less
The somatotype is a useful method in the analysis of body morphology but no study has identified genetic variants associated with its components. The aim of this study is o replicate the association o Show more
The somatotype is a useful method in the analysis of body morphology but no study has identified genetic variants associated with its components. The aim of this study is o replicate the association of 21 SNPs with obesity and to explore their association with the somatotype components, in a sample from the Basque Country (Spain). A case-control study was performed in 472 adults from 18 to 79 years old. A literature search was conducted in PubMed to select genetic variants associated with obesity in European derived populations. After the quality control of the chosen variants, 21 SNPs were finally used to conduct association analyses. Logistic and linear regressions implemented in PLINK (v1.07) were used to assess the association between SNPs and the somatotype. Two genetic variants (rs925946 in BDNF and rs10146997 in NRXN3) showed a significant association with endomorphy ( Show less