title: Genetic polymorphisms of stromal interaction molecule 1 associated with the erythrocyte sedimentation rate and C-reactive protein in HLA-B27 positive ankylosing spondylitis patients.
abstract: Ankylosing spondylitis (AS) is a chronic inflammation of the sacroiliac joints, spine and peripheral joints. The development of ankylosing spondylitis is still unclear. Genetics factors such as human leukocyte antigen HLA-B27 and ERAP1 have been widely reported to associate to AS susceptibility. In this study, we enrolled 361 AS patients and selected four tagging single nucleotides polymorphisms (tSNPs) at STIM1 gene. The correlation between STIM1 genetic polymorphisms and AS activity index (BASDAI, BASFI, BAS-G) as well as laboratory parameters of inflammation (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) were tested. Our results indicated that HLA-B27 positive AS patients who are carrying the minor allele homozygous G/G genotype of SNP rs3750996 significantly associated with a higher level of ESR in serum. Furthermore, rs3750996/rs3750994 pairwise allele analysis indicated that G-C haplotypes also significantly correlated with higher level of ESR as well as CRP. These findings provide a better understanding of STIM1 genetic contribution to the pathogenesis of AS.
authors.affiliation: Division of Allergy, Immunology and Rheumatology, Department of Medicine, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: James Cheng-Chung
authors.initials: JC
authors.lastname: Wei
authors.forename: Kuo-Sheng
authors.initials: KS
authors.lastname: Hung
authors.forename: Yu-Wen
authors.initials: YW
authors.lastname: Hsu
authors.forename: Ruey-Hong
authors.initials: RH
authors.lastname: Wong
authors.forename: Chun-Huang
authors.initials: CH
authors.lastname: Huang
authors.forename: Ming-Shiou
authors.initials: MS
authors.lastname: Jan
authors.forename: Shyh-Jong
authors.initials: SJ
authors.lastname: Wu
authors.forename: Yung-Shun
authors.initials: YS
authors.lastname: Juan
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001799:Blood Sedimentation; D002097:C-Reactive Protein / Q000235:genetics*; D005838:Genotype; D015796:HLA-B27 Antigen / Q000096:biosynthesis*; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007249:Inflammation; D015850:Interleukin-6 / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000175:diagnosis / Q000235:genetics*; D000071737:Stromal Interaction Molecule 1; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism
chemical_list: D015796:HLA-B27 Antigen; D015850:Interleukin-6; D008565:Membrane Proteins; D009363:Neoplasm Proteins; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1; D014409:Tumor Necrosis Factor-alpha; D002097:C-Reactive Protein