title: Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy.
abstract: OBJECTIVE
  Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations support genetic contributions to the susceptibility of these diseases. The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T>C in CDKAL1, rs11584383 T>C near KIF21B, and rs11175593 C>T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA.
  
  
  METHODS
  Genomic DNA was obtained from 71 SAPHO, 125 RA, 67 AS, and 35 SPA Han Chinese patients, as well as 104 healthy controls. SNPs were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Genotype and allele frequencies were analyzed using chi-square test.
  
  
  RESULTS
  rs6908425 T>C in CDKAL1 was significantly different between SAPHO cases and healthy controls (odds ratios = 2.056, 95% confidence intervals: 1.211-3.490; p = 0.007), but no SNPs were associated with the risk of developing RA, AS, or SPA (p > 0.05). Analysis of genotype distributions showed similar results. A significant difference was only found in the genotype frequency of rs6908425 in SAPHO cases (p = 0.004); no significant differences were detected among patients with RA, AS, and SPA (p > 0.05).
  
  
  CONCLUSIONS
  Our results suggest that rs6908425 in CDKAL1 is associated with the risk of developing SAPHO in Han Chinese populations. People who carry the risk allele T of rs6908425 might be more prone to developing SAPHO syndrome.
authors.affiliation: 1 Clinic Laboratory, First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .|2 Key Clinical Laboratory of Henan Province , Zhengzhou, China .
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.affiliation: 1 Clinic Laboratory, First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .|2 Key Clinical Laboratory of Henan Province , Zhengzhou, China .
authors.forename: Junfen
authors.initials: J
authors.lastname: Ma
authors.affiliation: 3 Clinic Laboratory, First Affiliated Hospital of Henan Polytechnic University (Second People's Hospital of Jiaozuo) , Jiaozuo, China .
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.affiliation: 4 National Research Institute for Family Planning , Beijing, China .
authors.forename: Changlong
authors.initials: C
authors.lastname: Guo
authors.affiliation: 1 Clinic Laboratory, First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .|2 Key Clinical Laboratory of Henan Province , Zhengzhou, China .
authors.forename: Liang
authors.initials: L
authors.lastname: Ming
mesh_terms: D020083:Acquired Hyperostosis Syndrome / Q000235:genetics*; D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000209:etiology / Q000235:genetics; D016022:Case-Control Studies; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016547:Kinesins / Q000235:genetics / Q000378:metabolism; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D025242:Spondylarthropathies / Q000209:etiology / Q000235:genetics; D013167:Spondylitis, Ankylosing / Q000209:etiology / Q000235:genetics; D012359:tRNA Methyltransferases / Q000235:genetics* / Q000378:metabolism
chemical_list: D012359:tRNA Methyltransferases; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; C525110:CDKAL1 protein, human; C550348:KIF21B protein, human; D016547:Kinesins
keywords: CDKAL1; Rs6908425; SAPHO syndrome; polymorphism