Genetic Polymorphisms of Stromal Interaction Molecule 1 Associated with the Erythrocyte Sedimentation Rate and C-Reactive Protein in HLA-B27 Positive Ankylosing Spondylitis Patients

• Published in: PloS one Vol. 7; no. 12; p. e49698
• Main Authors: Wei, James Cheng-Chung, Hung, Kuo-Sheng, Hsu, Yu-Wen, Wong, Ruey-Hong, Huang, Chun-Huang, Jan, Ming-Shiou, Wu, Shyh-Jong, Juan, Yung-Shun, Chang, Wei-Chiao
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 14.12.2012; Public Library of Science (PLoS)
• Subjects: Adolescent; Adult; Aged; Alleles; Ankylosing spondylitis; Antigens; Arthritis; B cells; Biology; Blood Sedimentation; C-reactive protein; C-Reactive Protein - genetics; Deoxyribonucleic acid; DNA; Enzymes; Erythrocyte sedimentation rate; Erythrocytes; Genes; Genetic aspects; Genetics; Genotype; Haplotypes; Histocompatibility antigen HLA; HLA antigens; HLA-B27 Antigen - biosynthesis; Homozygote; Hospitals; Humans; Immunology; Inflammation; Interleukin-6 - metabolism; Joint diseases; Laboratories; Leukocytes; Medical research; Medical schools; Medicine; Membrane Proteins - genetics; Membrane Proteins - metabolism; Middle Aged; Neoplasm Proteins - genetics; Neoplasm Proteins - metabolism; Nucleotides; Pathogenesis; Patients; Pharmacy; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Proteins; Sequence Analysis, DNA; Severity of Illness Index; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Spine; Spondylitis; Spondylitis, Ankylosing - diagnosis; Spondylitis, Ankylosing - genetics; STIM1 protein; Stromal Interaction Molecule 1; Studies; Tagging; Tumor Necrosis Factor-alpha - metabolism; Tumor necrosis factor-TNF; Taiwan
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0049698

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.