The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.

ABSTRACT:

Unlabelled

To explore the potential influence of the polymorphic 8p23.1 inversion on known autoimmune susceptibility risk at or near BLK locus, we validated a new bioinformatics method that utilizes SNP data to enable accurate, high-throughput genotyping of the 8p23.1 inversion in a Caucasian population.

Methods

Principal components analysis (PCA) was performed using markers inside the inversion territory followed by k-means cluster analyses on 7416 European derived and 267 HapMaP CEU and TSI samples. A logistic regression conditional analysis was performed.

Results

Three subgroups have been identified; inversion homozygous, heterozygous and non-inversion homozygous. The status of inversion was further validated using HapMap samples that had previously undergone Fluor

SUBMITTER: Namjou B 

PROVIDER: S-EPMC4278715 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature