AD causal variants in the PVRL2 and APOC1 regions
We recently reported a WGS study of AD in the mainland Chinese population (n = 1172; Supplementary Table 1), in which multiple variants located in APOE and the surrounding regions exhibited the strongest association with AD27. To further investigate the existence of additional risk signals in this region, we conducted fine-mapping analysis in the extended APOE region (chr19:45,300,000–45,500,000) using the GATK HaplotypeCaller, which enables the simultaneous detection of SNPs and INDELs in the WGS data of this cohort and an AD cohort from Hong Kong. We applied post-filtering, including controlling for imputation quality (allele dosage DR2), allele frequency, and Hardy–Weinberg equilibrium, yielding 682 variants (554 SNPs and 128 INDELs) for subsequent investigation (see Methods section).
To examine whether there are…
