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    Eur J Hum Genet. 2010 Sep;18(9):1054-6. Epub 2010 May 26.

    The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels.

    Berulava T, Horsthemke B.

    Source

    Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

    Abstract

    As shown by genome-wide association studies single-nucleotide polymorphisms (SNPs) within intron 1 of the FTO gene are associated with the body mass index and type II diabetes, although the functional significance of these SNPs has remained unclear. Using primer extension assays, we have determined the ratio of allelic FTO transcript levels in unspliced heterogeneous nuclear RNA preparations from blood of individuals heterozygous for SNP rs9939609. Allelic expression ratios of the neighboring RPGRIP1L gene were investigated in individuals who were heterozygous for SNP rs4784319 and heterozygous or homozygous for rs9939609. In each of five individuals, the FTO transcripts containing the A (risk) allele of rs9939609 were more abundant than those with T allele (mean 1.38; 95% confidence interval 1.31-1.44). Similar results were obtained in a fibroblast sample. We also observed skewed allelic expression of the RPGRIP1L gene in blood, but skewing was independent of the FTO genotype. Our data suggest that increased expression of FTO is associated with increased body mass.

    PMID:
    20512162
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2987405
    Free PMC Article

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