Table 4.
Rare variants associated with AD in East Asian populations
| Gene | dbSNP | Coding DNA | Protein | Minor allele frequency | Association study in East Asians | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| European (non-Finnish) | South Asian | East Asian | Ethnicity | P value | OR | 95% CI | ||||
| APP | rs63750847a | c.2017G > A | p.Ala673Thr | 0.0349% | 0.0000% | 0.0000% | Chinese | No carriers found | ||
| Chinese | No carriers found | |||||||||
| MLKL | rs763812068 | c.142 C > T | p.Gln48Ter | 0.0008% | 0.0000% | 0.1003% | Chinese | 0.006 | NA | NA |
| TREM2 | rs75932628a | c.140 G > A | p.Arg47His | 0.2466% | 0.2321% | 0.0000% | Japanese | 1.00 | 0.57 | 0.05–6.30 |
| Chinese | No carriers found | |||||||||
| Chinese | No carriers found | |||||||||
| rs201280312 | c.389 C > T | p.Ala130Val | 0.0000% | 0.0000% | 0.0109% | Chinese | 0.13 | NA | NA | |
| rs2234255 | c.469 C > T | p.His157Tyr | 0.0294% | 0.0719% | 0.1805% | Japanese | 0.53 | 1.73 | 0.49–6.13 | |
| Chinese | 0.005 | 11.01 | 1.38–88.05 | |||||||
| rs200820365 | c.547 A > T | p.Ser183Cys | 0.0000% | 0.0000% | 0.8525% | Chinese | 0.035 | 2.75 | 1.03–7.34 | |
| rs150277350 | c.574 G > A | p.Ala192Thr | 0.0080% | 0.0294% | 0.0401% | Chinese | 0.18 | NA | NA | |
| rs1391283629 | c.600 G > C | p.Trp200Cys | 0.0000% | 0.0000% | 0.0056% | Chinese | 1.00 | NA | NA | |
| rs2234256 | c.632 T > C | p.Leu211Pro | 0.1115% | 5.8400% | 0.1604% | Japanese | 0.30 | 0.71 | 0.39–1.28 | |
| PLD3 | rs145999145a | c.694 G > A | p.Val232Met | 0.5325% | 0.0851% | 0.0150% | Chinese | No carriers found | ||
| SHARPIN | rs572750141 | c.556 G > A | p.Gly186Arg | 0.0018% | 0.0065% | 0.0558% | Japanese | 0.000012 | 6.1 | 2.4–15.5 |
| rs77359862 | c.820 C > T | p.Arg274Trp | 0.0086% | 0.0818% | 3.7530% | Japanese | 0.0016 | 1.43 | 1.15–1.78 | |
| UNC5C | rs137875858a | c.2504 C > T | p.Thr835Met | 0.0496% | 0.0033% | 0.0000% | Chinese | No carriers found | ||
| NA | c.2508 C > G | p.Val836Val | NA | NA | NA | Chinese | 0.36 | NA | NA | |
| rs368284839 | c.2510 C > A | p.Thr837Lys | 0.0000% | 0.0000% | 0.1203% | Chinese | 0.13 | NA | NA | |
| rs779272234 | c.2527 A > G | p.Ser843Gly | 0.0008% | 0.0000% | 0.1203% | Chinese | 0.36 | NA | NA | |
| rs372767649 | c.2580 G > C | p.Gln860His | 0.0000% | 0.0294% | 0.1253% | Chinese | 0.017 | NA | NA | |
Minor allele frequencies were obtained from gnomAD v2.1.1
CI confidence interval, NA not available, OR odds ratio
arare variants proven in Caucasians