The Effect of Inversion at 8p23 on BLK Association with Lupus in Caucasian Population

摘要: To explore the potential influence of 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 in Caucasian population. Methods: Principal components analysis (PCA) was performed using markers inside territory followed by k-means cluster analyses 7416 European derived and 267 HapMaP CEU TSI samples. A logistic regression conditional performed. Results: Three subgroups have been identified; homozygous, heterozygous non-inversion homozygous. The status further HapMap samples had previously undergone Fluorescence situ hybridization (FISH) assays with concordance rate above 98%. Conditional based were We found overall association signals region remain significant after controlling for status. proportion lupus cases controls (cases/controls) each subgroup determined be 0.97 inverted homozygous group (1067 1095 controls), 1.12 (1935 1717 controls) 1.36 non-inverted (924 678 controls). After calculating linkage disequilibrium between haplotype tends reside background. As result, effect phenotype has identified ((p = 8.18×10−7, OR 1.18, 95%CI 1.10–1.26). Conclusion: Our results demonstrate both act additively pathogenesis lupus. Since regulates expression many genes its territory, altered other might also involved development