Research Article
LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan
Table 2
Allele frequency and distribution of the 8 tested LRRK2 variants.
| SNP | Hardy–Weinberg equilibrium p-value | Number of samples | Allele | na | Frequency | Genotype | nb | Frequency |
| p.Gly2019Ser (c.6055G>A) | 1 | 198 controls | | | | GG | 198 | 1.00 | G | 396 | 1.00 | GA | 0 | 0.00 | A | 0 | 0.00 | AA | 0 | 0.00 | 1 | 241 PD | | 482 | 1.00 | GG | 241 | 1.00 | G | 0 | 0.00 | GA | 0 | 0.00 | A | | | AA | 0 | 0.00 |
| p.Arg1441His (c.4322G>A) | 1 | 199 controls | | | | GG | 199 | 1.00 | G | 398 | 1.00 | GA | 0 | 0.00 | A | 0 | 0.00 | AA | 0 | 0.00 | 1 | 240 PD | | 480 | 1.00 | GG | 240 | 1.00 | G | 0 | 0.00 | GA | 0 | 0.00 | A | | | AA | 0 | 0.00 |
| p.Tyr1699Cys (c.5096A>G) | 1 | 196 controls | | | | GG | 196 | 1.00 | G | 392 | 1.00 | GA | 0 | 0.00 | A | 0 | 0.00 | AA | 0 | 0.00 | 1 | 239 PD | | 478 | 1.00 | GG | 239 | 1.00 | G | 0 | 0.00 | GA | 0 | 0.00 | A | | | AA | 0 | 0.00 |
| p.Ile2020Thr (c.6059T>C) | 1 | 198 controls | | | | TT | 198 | 1.00 | T | 396 | 1.00 | TC | 0 | 0.00 | C | 0 | 0.00 | CC | 0 | 0.00 | 1 | 242 PD | | 484 | 1.00 | TT | 242 | 1.00 | T | 0 | 0.00 | TC | 0 | 0.00 | C | | | CC | 0 | 0.00 |
| p.Asn1437His (c.4309A>C) | 1 | 199 controls | | | | AA | 198 | 1.00 | A | 398 | 1.00 | AC | 0 | 0.00 | C | 0 | 0.00 | CC | 0 | 0.00 | 1 | 240 PD | | 480 | 1.00 | AA | 240 | 1.00 | A | 0 | 0.00 | AC | 0 | 0.00 | C | | | CC | 0 | 0.00 |
| p.Gly2385Arg (c.7153G>A) | 0.94 | 199 controls | | | | GG | 197 | 0.99 | G | 396 | 0.995 | GA | 2 | 0.01 | A | 2 | 0.005 | AA | 0 | 0.00 | 0.92 | 239 PD | | | | GG | 236 | 0.99 | G | 475 | 0.993 | GA | 3 | 0.01 | A | 3 | 0.007 | AA | 0 | 0.00 |
| p.Ala419Val (c.1256C>T) | 0.85 | 199 controls | | | | CC | 194 | 0.98 | C | 393 | 0.988 | CT | 5 | 0.02 | T | 5 | 0.012 | TT | 0 | 0.00 | 0.004 | 242 PD | | | 0.98 | CC | 233 | 0.97 | C | 474 | 0.02 | CT | 8 | 0.04 | T | 10 | | TT | 1 | 0.00 |
| p.Arg1628Pro (c.4883G>C) | 0.94 | 199 controls | | | | GG | 197 | 0.99 | G | 396 | 0.995 | GT | 2 | 0.01 | C | 2 | 0.005 | TT | 0 | 0.00 | 1 | 236 PD | | | | GG | 236 | 1.00 | | G | 472 | 1.00 | GT | 0 | 0.00 | | C | 0 | 0.00 | TT | 0 | 0.00 |
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n1—number of alleles, n2—number of genotypes, PD–Parkinson’s disease, HWE–Hardy–Weinberg equilibrium, and NA–not applicable.
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