Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.

ABSTRACT:

Background

A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polymorphism region (encompassing 3.8 - 4.5  Mb) located at 8p23. Initially implicated genes included FAM167A-BLK and XKR6, of which BLK received major attention due to its known role in B-cell biology. Recently, additional SLE risk carried in non-inverted background was also reported.

Objective and methods

In this case -control study, we further investigated the 'extended' 8p23 locus (~ 4  Mb) where we observed multiple SLE signals and assessed these signals for their relation to the inversion affecting this region. The study involved a North American discovery data set (~ 1200  subjects) and a replication data set (> 10 000  subjects) compri

SUBMITTER: Demirci FY 

PROVIDER: S-EPMC5610905 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature