Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

ABSTRACT:

Introduction

Osteoarthritis (OA) is the most common degenerative joint disease and one of the major causes of disability worldwide. It is a multifactorial disorder with a significant genetic component. The heritability of OA has been estimated to be 60% for hip OA and 39% for knee OA. Genetic factors behind OA are still largely unknown. Studying families with strong history of OA, facilitates examining the co-segregation of genetic variation and OA. The aim of this study was to identify new, rare genetic factors and novel candidate genes for OA.

Methods

Eight patients from three Finnish families with hip and knee OA were studied using whole exome sequencing. We focused on rare exonic variants with predicted pathogenicity and variants located in active promoter or strong enha

SUBMITTER: Skarp S 

PROVIDER: S-EPMC6114922 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature