Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders.

ABSTRACT:

Background

Copy number variation (CNV) contributes to the variation observed between individuals and can influence human disease progression, but the accurate measurement of individual copy numbers is technically challenging. In the work presented here we describe a modification to a previously described paralogue ratio test (PRT) method for genotyping the CCL3L1/CCL4L1 copy variable region, which we use to ascertain CCL3L1/CCL4L1 copy number in 1581 European samples. As the products of CCL3L1 and CCL4L1 potentially play a role in autoimmunity we performed case control association studies with Crohn's disease, rheumatoid arthritis and psoriasis clinical cohorts.

Results

We evaluate the PRT methodology used, paying particular attention to accuracy and precision, and highlight

SUBMITTER: Carpenter D 

PROVIDER: S-EPMC3166952 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature