Table 1.
Summary of Subject Genotyping Information
Genotypinga | ||||||
GWASb | ICc | GWAS- only |
IC-only | Bothd | Total | |
Italian PBC Cases | 453 | 622 | 54 | 223 | 399 | 676 |
Italian Controls | 1042 | 597 | 843 | 398 | 199 | 1440 |
MHC region SNP genotypes | ||||||
GWAS | IC | GWAS- only |
IC-only | Both | Total | |
Number of SNPse | 1548 | 4885 | 604 | 3941 | 944 | 5489 |
SNPs overlaping 1000 Genome referencef | 1435 | 4386 | 595 | 3546 | 840 | 4981 |
SNPs overlaping HLA referencef | 648 | 1444 | 166 | 962 | 482 | 1610 |
Additional details on subject set genotyping is in Supplemental Table 1.
GWAS: Genotyped using Illumina platforms with >550K genome-wide association study (GWAS) SNPs. The samples included in previous GWAS study.
IC: Subjects genotyped using Immunochip (IC) array.
Subjects genotyped using both GWAS platform and Immunochip array
Number of SNPs within the region [chromosome 6 bps 28911802 – 33813043 (HG19 map)] used for analyses.
Number of SNPs genotyped in region that overlap the reference sets used for imputation.