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Chunk #14 — RESULTS — Replication and exploration of CNVR 11q11

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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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trios.CNVR no.ChromosomeStart – stop CNVR in BPTagging SNPPosition of tagging SNP in BPMax. squared correlation (r2), SNP – CNVR (tagging direction)aSquared correlation (r2), SNP – CNV marker with min. pfamily-based (tagging direction)bSNP obesity effect allelecSNP other alleleFrequency of obesity effect allele in parentsOdds ratio (95% CId)P-valuee111q1155 130 596–55 210 165rs980465955 078 7870.65 (−)0.53 (−)GA27%1.188 (0.939–1.502)0.07641p31.172 541 074–72 583 749rs281575272 585 0280.79 (+)0.56 (+)TC66%1.277 (1.021–1.597)0.016aCorrelation is given as maximal squared Pearson correlation calculated between SNP genotypes and intensities at the copy number markers in the CNVR. A tagging direction of (–) indicates that the SNP minor allele tags the CNV deletion allele, whereas a tagging direction of (+) indicates that the SNP major allele is tagging the CNV deletion allele.bCorrelation is given as squared Pearson correlation calculated between SNP genotypes and intensities at the copy number marker with minimal P-value in the family-based discovery sample. A tagging direction of (–) indicates, that the SNP minor allele tags the CNV deletion allele, whereas a tagging direction of (+) indicates that the SNP major allele is tagging the CNV deletion allele.cSNP effect allele as derived from the family-based discovery GWAS sample.d95% confidence interval.eOne-sided, asymptotic P-values of the TDT.