Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

ABSTRACT: Significant resources have been invested in sequencing studies to investigate the role of rare variants in complex disease etiology. However, the diagnostic interpretation of individual rare variants remains a major challenge, and may require accurate variant functional classification and the collection of large numbers of variant carriers. Utilizing sequence data from 458 individuals with hypertriglyceridemia and 333 controls with normal plasma triglyceride levels, we investigated these issues using GCKR, encoding glucokinase regulatory protein. Eighteen rare non-synonymous GCKR variants identified in these 791 individuals were comprehensively characterized by a range of biochemical and cell biological assays, including a novel high-throughput-screening-based approach capable of measuring

SUBMITTER: Rees MG 

PROVIDER: S-EPMC4168830 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature