DNA was extracted from immortalized cell lines or directly from fresh blood or saliva. All markers [except rs1866146, which was genotyped by the TaqMan technique (30)] were genotyped by the Illumina GoldenGate Assay methodology (Illumina Inc., San Diego, CA, USA). To identify the genetic background of the unrelated subjects, we genotyped an additional 38 AIMs, including 37 short tandem repeat markers (STRs) and SNP marker FY (31), in a majority of the unrelated subjects (139 of 151 AA controls, 444 of 455 AA cases, 112 of 126 EA controls, and 316 of 336 EA cases) which were assessed with the SSADDA instrument. Genotype data for the 38 AIMs were available for all SCID-III-R or SCID-IV assessed control subjects (48 AAs and 357 EAs) (28,31). In total, there were AIM data for 96.1% (1,416/1,473) of the unrelated subjects.
