New Evidence Demonstrating Significant Association of V122I TTR Gene Mutation with Clinical Diagnosis of Polyneuropathy

13 Sep, 2019 New Evidence Demonstrating Significant Association of V122I TTR Gene Mutation with Clinical Diagnosis of Polyneuropathy

We presented new results from an analysis of the UK Biobank demonstrating a significant association of the V122I mutation, a highly prevalent mutation in the transthyretin (TTR) gene, with a clinical diagnosis of polyneuropathy. These results were presented at the Heart Failure Society of America (HFSA) 23^rd Annual Scientific Meeting, held September 13-16 in Philadelphia, PA.

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Parker et al. – “The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy”

Historically, the V122I variant has been associated with a predominantly cardiac phenotype. We presented findings from a phenome-wide association study demonstrating a significant association of the TTR V122I genotype with a clinical diagnosis of polyneuropathy in the black subpopulation of the UK Biobank. Among the 6,063 unrelated black participants, 243 subjects were carriers of the TTR V122I mutation. Among the carriers, polyneuropathy was significantly associated with the V122I genotype (odds ratio = 11.2; 95% confidence interval; p = 1.1×10^-6). The significant association of V122I with polyneuropathy was further replicated in the Penn Medicine Biobank from 5,737 black participants with 190 subjects who were V122I carriers.

Other presentations at HFSA included:

Grogan et al. – “Identifying Mixed Phenotype: Evaluating the Presence of Polyneuropathy in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Cardiomyopathy”

Polydefkis et al. – “Risk Factors for Mortality in Patients with Hereditary Transthyretin-Mediated Amyloidosis: Analysis of APOLLO and Global Open Label Extension Studies”

Judge et al. – “Impact of Patisiran, an RNAi Therapeutic, on Orthostatic Intolerance in Patients with Hereditary Transthyretin-Mediated Amyloidosis”

Malladi et al. – “Alnylam Act®: Heterogenous Disease Manifestations of Hereditary Transthyretin-Mediated Amyloidosis”