title: Association study of 3 rheumatoid arthritis risk loci in systemic sclerosis in European Caucasian population.
abstract: BACKGROUND
  Accumulating evidences show that shared autoimmunity is critical for the pathogenesis of many inflammatory rheumatic conditions. Specific phenotype could arise from specific genes, and/or combination of genetic factors and environment. Systemic sclerosis (SSc) belongs to connective tissue disorders and recent data have highlighted strong associations with some autoimmunity genes shared with other autoimmune diseases.
  
  
  OBJECTIVE
  To determine whether novel risk loci associated with rheumatoid arthritis (RA) may confer susceptibility to SSc. Single nucleotide polymorphism from CCL21, CD244 and CDK6 were tested for association.
  
  
  METHODS
  SNPs harbouring association with RA, CCL21-rs2812378, CDK6-rs42041 and CD244-rs6682654 were genotyped in a cohort of 1031 SSc patients and 1014 controls. All individuals were of European Caucasian origin.
  
  
  RESULTS
  The three polymorphisms were in Hardy-Weinberg equilibrium in the control population and allelic frequencies were similar to those expected in European populations. Allelic and genotypic frequencies for these three polymorphisms were found to be similar in SSc patients and controls. Moreover, sub-phenotype analyses in particular for subgroups having diffuse subcutaneous subtype, specific auto-antibodies or fibrosing alveolitis did not detect any difference between SSc patients and controls.
  
  
  CONCLUSIONS
  These results obtained through a large cohort of European Caucasian SSc patients do not support the implication of CCL21, CD244 and CDK6 genes in the pathogenesis of SSc although these genes were recently identified as RA susceptibility genes.
authors.affiliation: INSERM U1016, Université Paris Descartes, Hôpital Cochin, Paris, France. bcoustet@gmail.com
authors.forename: Baptiste
authors.initials: B
authors.lastname: Coustet
authors.forename: Philippe
authors.initials: P
authors.lastname: Dieude
authors.forename: Julien
authors.initials: J
authors.lastname: Wipft
authors.forename: Jerome
authors.initials: J
authors.lastname: Avouac
authors.forename: Eric
authors.initials: E
authors.lastname: Hachulla
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Diot
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Cracowski
authors.forename: Kiet-Phong
authors.initials: KP
authors.lastname: Tiev
authors.forename: Jean
authors.initials: J
authors.lastname: Sibilia
authors.forename: Luc
authors.initials: L
authors.lastname: Mouthon
authors.forename: Camille
authors.initials: C
authors.lastname: Frances
authors.forename: Zahir
authors.initials: Z
authors.lastname: Amoura
authors.forename: Patrick
authors.initials: P
authors.lastname: Carpentier
authors.forename: Olivier
authors.initials: O
authors.lastname: Meyer
authors.forename: Andre
authors.initials: A
authors.lastname: Kahan
authors.forename: Catherine
authors.initials: C
authors.lastname: Boileau
authors.forename: Yannick
authors.initials: Y
authors.lastname: Allanore
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics / Q000276:immunology; D001172:Arthritis, Rheumatoid / Q000150:complications / Q000235:genetics* / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics*; D054421:Chemokine CCL21 / Q000235:genetics / Q000276:immunology; D051361:Cyclin-Dependent Kinase 6 / Q000235:genetics / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic / Q000235:genetics / Q000276:immunology; D012595:Scleroderma, Systemic / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D000071176:Signaling Lymphocytic Activation Molecule Family; D044465:White People
chemical_list: D015703:Antigens, CD; C515478:CCL21 protein, human; C084093:CD244 protein, human; D054421:Chemokine CCL21; D011971:Receptors, Immunologic; D000071176:Signaling Lymphocytic Activation Molecule Family; C495911:CDK6 protein, human; D051361:Cyclin-Dependent Kinase 6