title: Mutations in the B30.2 domain of pyrin and the risk of ankylosing spondylitis in the Chinese Han population: a case-control study.
abstract: Ankylosing spondylitis (AS) and familial Mediterranean fever (FMF) are a common autoimmune disease and a classic autoinflammatory disease, respectively. Mediterranean fever (MEFV) encodes the pyrin protein and is the causal disease gene in FMF. This protein is an important regulator of innate immunity and may play a key role in the development of AS. To identify the mutations in the B30.2 domain of pyrin and to uncover the relationships between these mutations and AS risk in the Chinese Han population, we extracted genomic DNA from the peripheral blood of 200 AS patients and 200 matched controls and performed polymerase chain reactions (PCRs) and direct sequencing on those samples. Statistical analysis indicated that only Met694Val (rs61752717) in the B30.2 domain of pyrin could affect the risk of AS (P = 0.042; odds ratio [OR] = 5.103; 95% confidence interval [CI] = 1.111-23.437 for the model of Met (M) vs. Val (V), P = 0.040; OR = 5.211; 95% CI = 1.127-24.091 for the model of MM vs. MV+VV). Moreover, M694V is significantly associated with a higher level of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) in AS patients. Our results are the first to suggest that the M694V allele of the pyrin was associated with AS risk in the Chinese Han population and that this mutation may be associated with the inflammatory response in the development of AS.
authors.affiliation: Department of Orthopedics, Changhai Hospital Affiliated to the Second Military Medical University, 168 Changhai Road, Shanghai 200433, People's Republic of China.
authors.forename: Chongru
authors.initials: C
authors.lastname: He
authors.affiliation: Department of Orthopedics, Changhai Hospital Affiliated to the Second Military Medical University, 168 Changhai Road, Shanghai 200433, People's Republic of China.
authors.forename: Jia
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Orthopedics, Changhai Hospital Affiliated to the Second Military Medical University, 168 Changhai Road, Shanghai 200433, People's Republic of China.
authors.forename: Weidong
authors.initials: W
authors.lastname: Xu
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D054730:Protein Interaction Domains and Motifs / Q000235:genetics*; D000071198:Pyrin; D012307:Risk Factors; D013167:Spondylitis, Ankylosing / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Ankylosing spondylitis; Familial Mediterranean fever; MEFV; Mutation; Pyrin