Table 2. Case – control association results in the region of interest harboring APOE gene.
Gene | SNP | Coordinate (Build 36.3) | Type | Consequence Type | Allele frequency [%] cases/controls | p-Value |
TOMM40 | rs8102977 | 50085313 | imputed | 5′UTR | 2.3/1.3 | 0.3 |
TOMM40 | rs157580 | 50087106 | genotyped | intronic | 73.8/62.7 | 1.10×10−3 |
TOMM40 | rs2075650 | 50087459 | genotyped | intronic | 29.9/15.1 | 7.48×10−7 |
TOMM40 | rs11556505 | 50087984 | imputed | synonymous-coding | 26.5/14.3 | 2.96×10−5 |
TOMM40 | rs8106922 | 50093506 | genotyped | intronic | 70.6/64.8 | 0.08 |
TOMM40 | rs1160985 | 50095252 | imputed | intronic | 58.7/52.0 | 0.07 |
APOE | rs405509 | 50100676 | genotyped | 5′UTR | 57.6/49.3 | 0.02 |
APOE | rs769451 | 50102751 | genotyped | intronic | 98.8/97.6 | 0.21 |
APOE | rs429358 | 50103781 | genotyped | non-synonymous-coding | 41.3/14.9 | 2.30×10−16 |
APOE | rs7412 | 50103919 | genotyped | non-synonymous-coding | 97.7/91.9 | 5.00×10−4 |
LOC100129500 | rs439401 | 50106291 | genotyped | intronic | 75.0/62.9 | 4.00×10−4 |
LOC100129500-APOC1 | rs5114 | 50110286 | imputed | intronic | 1.00/99.5 | 0.19 |
LOC100129500-APOC1 | rs389261 | 50112183 | imputed | intronic | 98.3/96.4 | 0.15 |
LOC100129500-APOC1 | rs10424339 | 50112333 | imputed | intronic | 99.0/98.9 | 0.92 |
LOC100129500-APOC1 | rs12721054 | 50114427 | imputed | intronic | 1.00/99.5 | 0.2 |
Case control association analysis in the APOE region with special focus on TOMM40, APOE and APOC1 genes. Gene name, SNP name (rs number), SNP base-pair position (build 36.3), genotype type (either obtained through actual genotyping or through in silico imputation), physical location or SNP function (consequence type), case-control allele frequencies and p-values ordered by base-pair position.