TY - JOUR T1 - Association study of <em>ANXA11</em>-R230C with sarcoidosis JF - European Respiratory Journal JO - Eur Respir J VL - 40 IS - Suppl 56 SP - 170 AU - Fotini Bardaka AU - Zoe Daniil AU - Katerina M. Antoniou AU - Antigoni Mamara AU - Foteini Malli AU - Konstantinos I. Gourgoulianis AU - Anastasios E. Germenis AU - Matthaios Speletas Y1 - 2012/09/01 UR - http://erj.ersjournals.com/content/40/Suppl_56/170.abstract N2 - Introduction: Recently, a genome wide association study demonstrates that the polymorphism ANXA11-R230C (rs 1049550) is strongly associated with sarcoidosis, a chronic granulomatous disease (GD) of unknown etiology.Aim: Considering that also other diseases are accompanied by granulomas formation, as observed in 10% of patients with common variable immunodeficiency (CVID), the purpose of this study was to confirm the association of ANXA11-R230C with sarcoidosis and to examine its possible association with GD in CVID.Methods: DNA was extracted from peripheral blood of 71 patients with sarcoidosis (M/F:24/47, mean age: 52.5 years, range:20-75), 101 normal individuals (M/F:35/66, mean age: 54.1 years, range:19-76), and 19 CVID patients (M/F:7/12, mean age: 28.1 years, range: 2-60), two of which had granulomatous disease (one with familial CVID history including a sister without GD). A PCR-RFLP protocol was designed to detect ANXA11-R230C and statistical analysis was performed using the SPSS software (ver.-10.0).Results: The difference in the allele frequency of ANXA11-R230C between patients with sarcoidosis and healthy individuals was not marginally reached to be significant (p=0.073). The allele frequency of ANXA11-R230C in CVID patients was 50.0% and no significant difference between patients with and without GD was observed. However, in the family with CVID, the member with GD carried only the R alleles, associated with granulomas formation, while her sister was heterozygous.Conclusions: The association of ANXA11-R230C with sarcoidosis was not confirmed, while the emerged contribution of this polymorphism in the granoulomas formation in CVID needs to be further clarified. ER -