rs13194504(A;A)

Sekar et al. (2016) Schizophrenia risk from complex variation of complement component 4. Supplementary Figure 7 "The most strongly associating HLA loci were HLA-B (in primary analyses, Fig. 4a and Extended Data Fig. 6a) and HLA-DRB1 and HLA-DQB1 (in analyses controlling for the signal defined by rs13194504, Fig. 4c and Extended Data Fig. 6b). At these loci, the most strongly associating classical HLA alleles were HLA-B*0801, HLA-DRB1*0301, and HLA-DQB*02, respectively. These HLA alleles are all in strong but partial LD with C4 BS, the most protective of the C4 alleles; they are also in partial LD with the low-risk allele at rs13194505, representing the distinct signal several megabases to the left (Fig. 4). In joint analyses with each of these HLA alleles, genetically predicted C4A expression and rs13194505 continued to associate strongly with schizophrenia, while the HLA alleles did not. In further joint analyses with rs13194504 and genetically predicted C4A expression, 0 of 2,514 tested HLA SNP, amino acid and classical-allele polymorphisms (from ref. 55, including all variants with minor allele frequency (MAF) >0.005) associated with schizophrenia as strongly as rs13194504 or predicted C4A expression did."