Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
We investigated whether the three SNP (rs7750458, rs9501251 and rs9500928) at 6p21.32 in the HLA-DPB1 gene were significantly associated with DM (P < 5 × 10<sup>-8</sup> ) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 × 10<sup>-7</sup> , odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 × 10<sup>-7</sup> , OR = 4.39) with suggestive evidence.
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.
Among 128 normal Caucasians, the 385fsInsG mutation was absent and the G178D mutation had a frequency of 0.0078, suggesting that these were rare molecular events that likely contributed to the carboxypeptidase N deficiency phenotype.
We investigated whether the three SNP (rs7750458, rs9501251 and rs9500928) at 6p21.32 in the HLA-DPB1 gene were significantly associated with DM (P < 5 × 10<sup>-8</sup> ) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 × 10<sup>-7</sup> , odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 × 10<sup>-7</sup> , OR = 4.39) with suggestive evidence.