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Jürgen Glas, Julia Seiderer, Cornelia Tillack, Ekaterini Paschos, Martin Wetzke, Julia Diegelmann, Darina Czamara, Stephan Brand, Functional SFTPD gene variants are not associated with susceptibility to inflammatory bowel disease in the German population, Inflammatory Bowel Diseases, Volume 17, Issue 6, 1 June 2011, Pages 1439–1440, https://doi.org/10.1002/ibd.21500
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To the Editor:
Surfactant protein D (SP-D) belongs to the family of collectins that are humoral molecules of the innate immune system present in plasma and on mucosal surfaces. Collectins are oligomeric proteins consisting of carbohydrate recognition domains attached to collagenous structures and recognize pathogen-associated molecular patterns (PAMPs).1 While production of surfactant protein A (SP-A) is restricted to the lung, the more widely expressed SP-D is also found in gastrointestinal epithelial cells. The SP-D encoding gene SFTPD is a functional candidate gene for inflammatory bowel disease (IBD). Within the SFTPD gene, a previous small Japanese study described three single nucleotide polymorphisms (SNPs) that are associated with ulcerative colitis (UC).2 These SFTPD SNPs are located in coding regions (rs721917 = p.Met11Thr, rs2243639 = p.Thr160Ala, and rs3088308 = p.Ser 270Thr).2
Given the remarkable differences in the genetic IBD susceptibility between Caucasian and Asian cohorts, we aimed to replicate the association of SFTPD SNPs in a European cohort of 313 IBD patients (Crohn's disease [CD]: n = 175; UC: n = 138) and 265 healthy, unrelated controls. The demographic data of the study cohort are given in Supporting Table S1. Genotyping of the three SFTPD SNPs (rs721917=p.Met11Thr, rs2243639 = p.Thr160Ala, and rs3088308 = p.Ser 270Thr) was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis (see details in Supporting Material and Supporting Table S2).