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To visualize the cosegregation of the c.4468A>G, p.Asp1556Gly and c.81C>T, p.Arg27Gln variants, we calculated the odds ratio of having biallelic pathogenic variants (BPVs) in patients with PD with c.4468A>G, p.Asp1556Gly or c.81C>T, p.Arg27Gln compared to those with c.4468A>G, p.Asp1556Gly or c.81C>T, p.Arg27Gln as single BPVs by conditional logistic regression analyses (Table 4 ). We found that the odds ratios for PD with biallelic BPVs were in the range of 25.4-29.6 depending on which subset of patients was compared to the ones with c.4468A>G, p.Asp1556Gly or c.81C>T, p.Arg27Gln as a single BPV. This indicated that the c.4468A>G, p.Asp1556Gly and c.81C>T, p.Arg27Gln variants are highly associated with PD. However, an association between c.4468A>G, p.Asp1556Gly or c.81C>T, p.Arg27Gln and PD as independent BPVs was observed only when c.4468A>G, p.Asp1556Gly or c.81C>T, p.Arg27Gln were present as a biallelic BPV (OR of 2.2). While c.4468A>G, p.Asp1556Gly and c.81C>T, p.Arg27Gln were absent, the ORs were 1.2-1.4.](https://eipub.com/eutils/eupub/html/guidelines-for-human-data-analysis-guidelines-for-human-data-analysis-23.html#OratiofR1702104) Sagara Ghosha Pdf Free Download Additional Human Phenotype Ontology terms were investigated on the basis of the 149 patients with PD who harbored either the c.4468A>G or c.81C>T, or both mutations. The predominate phenotype that was significantly associated with the c.81C>T, p.Arg27Gln variant were eye movement disorders (eyes:7/7, orbit: 3/7, eye lobe: 2/7, eye protrusion: 1/7, bulbar syndrome: 1/7), balance disorders (5/7, balance loss: 3/7, unsteady gait/pansystolic: 2/7, dysmetria/fluctuating: 1/7), and dyskinesias/hyperkinesias (4/7, dyskinesia: 2/7, restless: 1/7, falls/ fainting/ syncope: 1/7). The predominate phenotype that was associated with the c.4468A>G, p.
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