Analysis of immune regulatory genes' copy number variants in XXXX .

@entity1 @entity2743 @entity2936 @entity471 @entity5812 @entity4386
BACKGROUND: Copy number variants (CNVs) have recently been reported to be associated with several autoimmune conditions. Moreover, loci involved in immunity are enriched in CNVs. Therefore, we hypothesized that CNVs in immune genes associated with @entity2743 ( @entity2743 ) may contribute to the etiology of disease. METHODS: One hundred ninety-one North American Caucasian @entity2743 @entity1 and 192 Caucasian controls were analyzed for CNVs in three major immune regulatory genes: @entity2936 , @entity5812 , and @entity4386 . Copy number was determined using quantitative-PCR (Q-PCR) assays specifically designed for determining copy numbers in genomic DNA. Additionally, a well-characterized @entity471 in the amylase gene was typed in a separate dataset of DNA samples that were derived from cell lines or blood. RESULTS: No CNVs could be confirmed in the @entity2936 and @entity4386 genes, even though a @entity2936 @entity471 is cataloged in the Database of Genomic Variants. Only the @entity5812 @entity471 was confirmed in our cohort, but it was rare and appeared in only two individuals. A key finding was that the source of DNA has a significant effect on @entity471 typing. There was a statistically significant increase in amylase locus deletions in cell line-derived DNA compared to blood-derived DNA samples. CONCLUSIONS: We conclude that @entity471 analysis should be performed only using blood-derived DNA Samples. Additionally, the @entity4386 , @entity2936 , and @entity5812 loci do not harbor CNVs that play a role in the etiology of @entity2743 .
