Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

ABSTRACT:

Objective

To identify and investigate the susceptibility genes of Kashin-Beck disease (KBD) in Chinese population.

Methods

Whole-exome capturing and sequencing technology was used for the detection of genetic variations in 19 individuals from six families with high incidence of KBD. A total of 44 polymorphisms from 41 genes were genotyped from a total of 144 cases and 144 controls by using MassARRAY under the standard protocol from Sequenom. Association was applied on the data by using PLINK1.07.

Results

In the sequencing stage, each sample showed approximately 70-fold coverage, thus covering more than 99% of the target regions. Among the single nucleotide polymorphisms (SNPs) used in the transmission disequilibrium test, 108 had a p-value of <0.01, whereas 1056 had a

SUBMITTER: Yang Z 

PROVIDER: S-EPMC4002427 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature