In this study, we sequenced the coding regions and the flanking intronic regions of 17 NMDAR-related genes in 1520 subjects to study the relationship of RVs at these loci to SD phenotypes (AD, CD and OD). A total of 388 of RVs (MAF ≤ 1% in both EAs and AAs) were observed with high confidence in coding exons and introns within 5 bp of a splice junction (Table 2). Seventeen exonic RVs, the frequency of which were observed in at least three more case pools than control pools, or vice versa, were selected for follow up in an independent sample of 6751 subjects. Eleven RVs were successfully genotyped using the TaqMan method. All variants called in the sequencing stage were validated by TaqMan genotyping and no additional alleles were observed in the subjects of the sequencing stage, indicating high quality of the sequencing data where it could be confirmed directly. SKAT analyses of the 8271 subjects showed a statistically significant association between these 11 RVs and OD in AAs (P=0.00080). Results from gene-based association tests showed that the association signal
