title: Extended genetic analysis of BTNL2 in sarcoidosis.
abstract: Single nucleotide polymorphisms in the BTLN2 gene have been recently associated with the risk for sarcoidosis. We now aimed to study additional genetic alterations in BTLN2 as putative genetic risk. The CNV_ID 507, which was highlighted for its possible involvement in sarcoidosis because of its partly deletion of the BTNL2 gene, was tested for association in a cohort of 89 sarcoidosis patients and 89 matched controls, but our results indicated that CNV_ID 507 does not affect the genomic structure of BTLN2 as previously described. Additionally, we identified a heterozygous 1 bp deletion in exon 3, c.450delC. We genotyped 210 patients and 201 controls for c.450delC and observed similar genotype frequencies in both groups without a significant difference (P = 0.4996).
authors.affiliation: Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: S
authors.initials: S
authors.lastname: Pabst
authors.forename: S
authors.initials: S
authors.lastname: Lokhande
authors.forename: C
authors.initials: C
authors.lastname: Grohé
authors.forename: B
authors.initials: B
authors.lastname: Wollnik
mesh_terms: D000071797:Butyrophilins; D005091:Exons / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012507:Sarcoidosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D008562:Membrane Glycoproteins