Table 2.
Allele specific interaction between MAPT H2-tagging SNP rs8070723 two new loci (rs11590278 VANGL1 and rs56312722 EMP1)
| SNPs interaction | IPDGC cohort | UKBB cohort | |||
|---|---|---|---|---|---|
| OR (95%CI) | p-value | OR (95%CI) | p-value | ||
| Interaction of rs11590278 (VANGL1) vs H2 MAPT haplotype | |||||
| rs11590278 (VANGL1) | rs8070723 (MAPT) | N (PD) = 4,779 N (controls) = 4,849 | N (PD) = 550 N (controls) = 138,292 | ||
| C/C | G/G | N/A | 1 | 22.91 (0.53–157.71) | 0.057 |
| C/T | G/G | 1.51 (0.97–2.4) | 0.067 | 0.58 (0.07–2.10) | 0.593 |
| T/T | G/G | 0.85 (0.75–0.96) | 0.008 | 0.93 (0.70–1.21) | 0.603 |
| C/C | G/A | 5.08 (0.57–239.93) | 0.122 | N/A | 1 |
| C/T | G/A | 1.73 (1.40–2.18) | 9.93E-08 | 1.40 (0.94–2.01) | 0.083 |
| T/T | G/A | 0.94 (0.84–1.04) | 0.225 | 0.97 (0.78–1.21) | 0.738 |
| Interaction of rs11590278 (VANGL1) vs H1/H1 MAPT haplotype | |||||
| rs11590278 (VANGL1) | rs8070723 (MAPT) | N (PD) = 8,442 N (controls) = 6,765 | N (PD) = 1,004 N (controls) = 204,749 | ||
| C/C | A/A | 1.12 (0.38–4.08) | 0.800 | 3.09 (0.37–11.43) | 0.140 |
| C/T | A/A | 1.1 (0.95–1.28) | 0.218 | 0.89 (0.64–1.21) | 0.505 |
| T/T | A/A | 0.91 (0.78–1.05) | 0.208 | 1.05 (0.8–1.41) | 0.786 |
| OR | p-value | OR | p-value | ||
| Interaction of rs56312722 (EMP1) vs H2 MAPT haplotype | |||||
| rs56312722 (EMP1) | rs8070723 (MAPT) | N (PD) = 4,779 N (controls) = 4,849 | N (PD) = 550 N (controls) = 138,292 | ||
| T/T | G/G | 0.79 (0.62–1.01) | 0.054 | 1.19 (0.72–1.86) | 0.456 |
| T/C | G/G | 0.98 (0.83–1.16) | 0.837 | 0.87 (0.59–1.26) | 0.541 |
| C/C | G/G | 0.83 (0.66–1.06) | 0.131 | 0.81 (0.45–1.34) | 0.477 |
| T/T | G/A | 1.07 (0.97–1.19) | 0.157 | 1.13 (0.92–1.38) | 0.240 |
| T/C | G/A | 0.99 (0.92–1.08) | 0.918 | 1.01 (0.85–1.2) | 0.897 |
| C/C | G/A | 1.01 (0.92–1.12) | 0.751 | 0.91 (0.73–1.12) | 0.411 |
| Interaction of rs56312722 (EMP1) vs H1/H1 MAPT haplotype | |||||
| rs56312722 (EMP1) | rs8070723 (MAPT) | N (PD) = 8,442 N (controls) = 6,765 | N (PD) = 1,004 N (controls) = 204,749 | ||
| T/T | A/A | 0.84 (0.78–0.91) | 5.34E-06 | 1.12 (0.97–1.3) | 0.101 |
| T/C | A/A | 0.95 (0.89–1.01) | 0.122 | 0.96 (0.82–1.06) | 0.297 |
| C/C | A/A | 1.27 (1.18–1.37) | 1.80E-10 | 0.95 (0.82–1.1) | 0.562 |
IPDGC- International Parkinson Disease Genomics Consortium; UKBB – UK biobank, OR- odds ratio; 95%CI- 95% confidence interval for odds ratio; rs8070723 is a MAPT H2-tagging SNP. G/G- H2/H2 haplotype; A/A - H1/H1 haplotype; G/A - H2/H1. N/A- the results are not valid due to the lack of a sufficient number of alleles for analysis.