VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone.

ABSTRACT:

Background and aims

Paget's disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. The disease affects osteoclasts which increase in size, number, and activity. One of the etiopathogenic hypotheses is that the disease is genetic. It has been reported that Rho GEF Vav3 is an essential factor in the regulation of osteoclast function, and alteration of the VAV3 gene could influence the development of the disease. The aim of our study was to perform an association study between variants of the VAV3 gene and the risk of developing Paget's disease of bone.

Patients and methods

The genotypic and allelic distribution of the VAV3 c.892A>T/p.T298S (rs7528153) polymorphism was compared between a cohort of 238 Spanish subjects with PDB and a cohort of 253 hea

SUBMITTER: Usategui-Martin R 

PROVIDER: S-EPMC4892207 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature