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Chunk #22 — IMPRINTED REGIONS ON 11p15 AND 7q32

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Parental origin of sequence variants associated with complex diseases.
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We previously22 correlated SNP genotypes from the Illumina 300K chip to gene expression using RNA samples from adipose tissue (N=603) and peripheral blood (N=745). Here, taking parental origin into account, we re-evaluated the correlation between the six variants in Table 1 and expression of genes at the 7q32 and 11p15.5 loci. Interestingly, the T2D risk allele of rs4731702 at 7q32 correlated with lower expression of KLF14 in adipose tissue (P = 3 × 10−21) when inherited maternally, but there was no effect when inherited paternally (Supplementary Table 7). Similar correlation was not seen in blood. Conversely, no strong correlation with parent of origin specific gene expression was seen for the other disease associated variants on 7q32 or 11p15.5 (Supplementary Table 7).