Genomweites long-range phasing und parent-of-origin Effekte für Adipositas in Deutschen Sorben
Final Report Abstract
Genome-wide genotypes and pedigree information from the Sorbs population were used. Phased genotypes among 525 individuals were generated by AlphaImpute (12). Subsequently, 22 SNPs within FTO introns 1 to 3 were selected and parent-of-origin specific association analyses were performed using PLINK (16). Interestingly, we identified several SNPs conferring different genetic effects (P≤0.05) depending on parental origin - among them, rs1861868, rs1121980 and rs9939973. To confirm our findings, we established a close collaboration with the University of Duisburg-Essen and the IFB Center for Sepsis Control and Care (CSCC), Jena University Hospital in order to perform parental asymmetry tests (PAT) in 705 childhood obesity trios from Germany comprising an (extremely) obese child or adolescent and both parents. Again, we observed evidence for POE effects in intron 2 and 3 (P≤0.05). Our results suggest that the obesity risk transmitted by several FTO variants may depend on the parental origin of the allele. Larger family-based studies are warranted to replicate our findings.