Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.080 | GeneticVariation | BEFREE | LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case-control association study for Parkinson's disease. | 31487119 | 2019 |
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0.080 | GeneticVariation | BEFREE | Two common LRRK2 variants, R1398H and N551K, have been shown to be protective in multiple PD cohorts. | 29593234 | 2018 |
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0.080 | GeneticVariation | BEFREE | Two common LRRK2 variants, R1398H and N551K, have been shown to be protective in multiple Parkinson's disease cohorts. | 29241968 | 2018 |
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0.080 | GeneticVariation | BEFREE | Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease. | 28395803 | 2017 |
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0.080 | GeneticVariation | BEFREE | Since some pathogenic LRRK2 mutations enhance this effect while the protective R1398H variant relieves it, our data strengthen the notion that decreased canonical Wnt activity is central to Parkinson's disease pathogenesis. | 28103901 | 2017 |
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0.080 | GeneticVariation | BEFREE | Together with the identification of the protective R1398H variant as a valuable control for pathogenic mutations, we have no doubt that these triumphs for the LRRK2 field will accelerate research towards resolving LRRK2 function and towards new treatments for PD. | 27913671 | 2016 |
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0.080 | GeneticVariation | BEFREE | However, a non-significant trend similar to that previously reported for PD was observed for the protective p.N551K-R1398H-K1423K haplotype in the clinical DLB series (OR: 0.76, P = 0.061). | 27521182 | 2016 |
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0.080 | GeneticVariation | BEFREE | Our results indicate that the association of LRRK2 p.R1398H with Parkinson's disease is independent of SNCA and MAPT variants, and vice versa, in Caucasian and Asian populations. | 23962496 | 2014 |