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BTNL2 gene polymorphism and sarcoid uveitis
  1. Mayeul Chaperon1,
  2. Yves Pacheco2,
  3. Delphine Maucort-Boulch3,4,
  4. Jean Iwaz3,4,
  5. Laurent Perard5,
  6. Christiane Broussolle1,
  7. Yvan Jamilloux1,
  8. Carole Burillon6,
  9. Laurent Kodjikian7,
  10. Alain Calender8,
  11. Pascal Seve9
  1. 1 Internal Medicine, Hopital de la Croix-Rousse, Lyon, France
  2. 2 Pneumology, Centre Hospitalier Universitaire de Lyon, Lyon, France
  3. 3 Service de Biostatistique, Hospices Civils de Lyon, Lyon, France
  4. 4 UMR5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, CNRS, Lyon, France
  5. 5 Internal Medicine, Centre Hospitalier Saint Joseph Saint Luc, Lyon, France
  6. 6 Department of Ophthalmology, HEH, Hospices Civils de Lyon, Lyon, France
  7. 7 Ophthalmology, Croix-Rousse University Hospital, Hospices Civils de Lyon, Lyon, France
  8. 8 Molecular Genetics, Centre Hospitalier Universitaire de Lyon, Lyon, France
  9. 9 Internal Medicine, University Claude Bernard, Lyon, France
  1. Correspondence to Professor Pascal Seve, Internal Medicine, Hospices Civils de Lyon, Lyon F-69004, France; pascal.seve{at}


Background Uveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.

Methods The study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv), 81 patients with uveitis without sarcoidosis (SaUv+), and 271 controls with no sarcoidosis nor uveitis (SaUv). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.

Results A statistically significant difference in genotype frequencies was found between the groups Sa+Uv and SaUv (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv and Sa+Uv+ subgroup I.

Conclusion No association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

  • immunology
  • inflammation
  • genetics

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  • Contributors MC, YP, DM-B, YJ and PS contributed to study design. LP, ChB, CaB and LK contributed to data acquisition and management. MC, DM-B and YJ contributed to data analysis, result interpretation and manuscript drafting. All authors contributed to manuscript drafting and its critical revision for final content.

  • Funding This work was supported by the French Ministry of Health (grant numbers PHRC D50604 and PHRC D50887).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval The SARCFAM study obtained Agreement N° 914 377 from the Commission Nationale de l'Informatique et des Libertés to collect clinical and genetic information. All included participants gave written informed consent for information and data collection/analysis. The genetic study on BTNL2 was performed in accordance with the recommendations of the French bioethics laws and followed the tenets of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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