Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

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Figure 3.
Figure 3.

Expression quantitative trait mapping for ZFP57. Expression of ZFP57 was determined by quantitative real-time RT-PCR in peripheral blood mononuclear cells of 93 healthy volunteers and analyzed for association using 45,237 SNPs enriched for immune and inflammatory genes. (A) Manhattan plot showing a highly significant association for an SNP, rs29228, 16.8 kb centromeric to ZFP57. The horizontal dashed line indicates the genome-wide threshold significance. The absence of other association with neighbor SNPs on chromosome 6 is not unexpected due to moderate SNP coverage in the region and low level of linkage disequilibrium. (B,C) Boxplots of ZFP57 gene expression relative to GAPDH depending on rs29228 genotype in 92 successfully genotyped individuals (Kruskal-Wallis test on genotypes, P = 6.7 × 10−11) (B) or for MHC-homozygous lymphoblastoid cell lines (C).

This Article

  1. Genome Res. 21: 1042-1054

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