OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype. METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay. RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes. CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.
OBJECTIVES: Multiple studies indicate the role of the interleukin (IL)-17/IL-23 axis in autoimmune diseases, including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype. METHODS: An initial case-control study in 143 Dutch patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay. RESULTS: Using a Dutch cohort of patients with SSc and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: p = 0.02 and p = 0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R-tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes. CONCLUSIONS: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.
Authors: Lara Bossini-Castillo; Jose-Ezequiel Martin; Jasper Broen; Olga Gorlova; Carmen P Simeón; Lorenzo Beretta; Madelon C Vonk; Jose Luis Callejas; Ivan Castellví; Patricia Carreira; Francisco José García-Hernández; Mónica Fernández Castro; Marieke J H Coenen; Gabriela Riemekasten; Torsten Witte; Nicolas Hunzelmann; Alexander Kreuter; Jörg H W Distler; Bobby P Koeleman; Alexandre E Voskuyl; Annemie J Schuerwegh; Øyvind Palm; Roger Hesselstrand; Annika Nordin; Paolo Airó; Claudio Lunardi; Raffaella Scorza; Paul Shiels; Jacob M van Laar; Ariane Herrick; Jane Worthington; Christopher Denton; Filemon K Tan; Frank C Arnett; Sandeep K Agarwal; Shervin Assassi; Carmen Fonseca; Maureen D Mayes; Timothy R D J Radstake; Javier Martin Journal: Hum Mol Genet Date: 2011-11-10 Impact factor: 6.150
Authors: Debendra Pattanaik; Monica Brown; Bradley C Postlethwaite; Arnold E Postlethwaite Journal: Front Immunol Date: 2015-06-08 Impact factor: 7.561
Authors: Sandeep K Agarwal; Pravitt Gourh; Sanjay Shete; Gene Paz; Dipal Divecha; John D Reveille; Shervin Assassi; Filemon K Tan; Maureen D Mayes; Frank C Arnett Journal: J Rheumatol Date: 2009-11-16 Impact factor: 4.666
Authors: Elisabet Einarsdottir; Lotta L E Koskinen; Emma Dukes; Kati Kainu; Sari Suomela; Maarit Lappalainen; Fabiana Ziberna; Ilma R Korponay-Szabo; Kalle Kurppa; Katri Kaukinen; Róza Adány; Zsuzsa Pocsai; György Széles; Martti Färkkilä; Ulla Turunen; Leena Halme; Paulina Paavola-Sakki; Tarcisio Not; Serena Vatta; Alessandro Ventura; Robert Löfberg; Leif Torkvist; Francesca Bresso; Jonas Halfvarson; Markku Mäki; Kimmo Kontula; Ulpu Saarialho-Kere; Juha Kere; Mauro D'Amato; Päivi Saavalainen Journal: BMC Med Genet Date: 2009-01-28 Impact factor: 2.103