Table 2.
Frequency of Rare AD Risk Variants in Subjects Aged 98–108 Years
| Gene | AA Change |
dbSNP | Centenarian MAF |
ExAC MAF |
gnomAD MAF | AD MAF |
Sex/Age | Ref. |
|---|---|---|---|---|---|---|---|---|
| TREM2 | D87N | rs142232675 | 0.01 (2/200) | 0.0018 | 0.00115 | 0.0028 | F/99; F/100 | (19) |
| TREM2 | R47H | rs75932628 | 0.005 (1/200) | 0.0026 | 0.00248 | 0.01 | F/101 | (19) |
| EPHA1 | P460L | rs202178565 | 0.01 (2/200) | 0.0004 | 0.00022 | 0.004 | M/102;F/100 | (20) |
| ABCA7 | V1599M | rs117187003 | 0.005 (1/200) | 0.0041 | 0.00339 | 0.018 | F/100 | (20) |
| PLD3 | V232M | rs145999145 | 0.01 (2/200) | 0.0045 | 0.00325 | 0.008 | F/103; F/102 | (21) |
Note: All variants were validated by Sanger sequencing. AA = amino acid; AD = Alzheimer’s disease; ExAC = Exome Aggregation Consortium; MAF = minor allele frequency; gnomAD = genome Aggregation Database.