Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis: analysis of 5 members of a family

C. Marie, B. Caroline, F. Nathalie, C. Alain, P. Yves, D. Gilles (Pierre Bénite, Lyon, France)

Source: Annual Congress 2007 - Novel genetic markers in pathology
Session: Novel genetic markers in pathology
Session type: Electronic Poster Discussion
Number: 3208

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
C. Marie, B. Caroline, F. Nathalie, C. Alain, P. Yves, D. Gilles (Pierre Bénite, Lyon, France). Homozygous variant rs2076530 of BTNL2 and familial sarcoidosis: analysis of 5 members of a family. Eur Respir J 2007; 30: Suppl. 51, 3208

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Association between BTNL2 and sarcoidosis evolution is secondary to HLA-DRB1* alleles
Source: Annual Congress 2009 - From genetics to clinics in diffuse parenchymal lung diseases
Year: 2009



CARD15 gene mutations in sarcoidosis
Source: Eur Respir J 2003; 22: 748-754
Year: 2003



CARD15/NOD2 3020insC (1007fs) mutation is not a genetic marker for cytokine network in sarcoidosis
Source: Eur Respir J 2006; 28: Suppl. 50, 520s
Year: 2006

Linkage and haplotype analyses for chemokine receptors clustered in chromosome 3q21.3 in family pedigrees with asthma and atopy
Source: Eur Respir J 2004; 24: Suppl. 48, 135s
Year: 2004

Is the BTNL2 genotype associated with specific HLA-DRB1 and DRB3/4/5 alleles in Danish sarcoidosis patients?
Source: International Congress 2015 – Sarcoidosis: pathogenesis
Year: 2015


Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels
Source: International Congress 2015 – Promising novel findings in translational pulmonary research
Year: 2015

Sarcoidosis is associated with a truncating splice site mutation in the BTNL2 gene
Source: Eur Respir J 2005; 26: Suppl. 49, 468s
Year: 2005

Homozygous mutations of ARFGAP1 gene in severe sarcoidosis
Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases
Year: 2020


Evaluation of ANXA11 rs1049550 SNP linkage with sarcoidosis susceptibility
Source: Annual Congress 2012 - Sarcoidosis
Year: 2012



Positive association of PPARG2 and PPARGC1A gene polymorphisms with sarcoidosis susceptibility
Source: Annual Congress 2007 - Novel therapeutic targets and disease markers in pulmonary pathology
Year: 2007



A BTNL2 gene variant confers to sarcoidosis susceptibility by an increased risk towards the chronic form of the disease
Source: Eur Respir J 2006; 28: Suppl. 50, 148s
Year: 2006

HLA-DRB1 allele distributions in Danish sarcoidosis patients. Increased prevalence of HLA-DRB1*15
Source: Annual Congress 2012 - Sarcoidosis
Year: 2012

Genetic and epigenetic analysis of the 17q12-21 locus in the Saguenay–Lac-Saint-Jean (SLSJ) asthma familial cohort.
Source: International Congress 2018 – Genetics in chronic pulmonary diseases
Year: 2018


Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Source: Eur Respir J 2015; 46: 474-485
Year: 2015



First heterozygous NOP10 mutation in familial pulmonary fibrosis
Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019
Year: 2020



Sarcoidosis and granuloma genes: a family-based study in African-Americans
Source: Eur Respir J 2004; 24: 251-257
Year: 2004



Genetic polymorphism of FOXP3 gene in sarcoidosis patients
Source: Eur Respir J 2006; 28: Suppl. 50, 353s
Year: 2006

Mutations in SFTPC, SFTPA2 and TERT explain 60% of familial pulmonary fibrosis and correlate to specific disease phenotypes
Source: Annual Congress 2011 - Genetic and molecular background in pulmonary fibrosis
Year: 2011

Association of single nucleotide polymorphisms in 4 genes (VDR, COL1A1, CALCR and BGLAP) with susceptibility to steroid osteoporosis in patients with idiopathic pulmonary fibrosis (IPF)
Source: Annual Congress 2011 - Genetic and molecular background in pulmonary fibrosis
Year: 2011


Genotypic diversity of Pseudomonas aeruginosa in cystic fibrosis patients with the CFTR I1234V mutation in a large kindred family
Source: Annual Congress 2012 - Cystic fibrosis (adults and children): risk factors and clinical problems
Year: 2012