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Chunk #33 — DISCUSSION

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Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.
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Very recently, another 21-kb CNV that lies 50 kb upstream of the gene GPRC5B has been reported to be associated with BMI (33). The identification of this CNV was based on the tagging SNP rs12444979 in a large meta-analysis for population-based samples, whereas the deletion allele of the CNV is tagged by the non-risk allele of the SNP. We could also identify this CNV as one of the 244 common CNVRs analysed here. However, a significant association with early-onset (extreme) obesity was observed only in our case–control GWAS discovery sample (one-sided min. PCC = 0.0066 and min. Pfamily-based = 0.0408 for the non-deletion direction).