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Association Of FCGR2B Gene Polymorphisms With Ankylosing Spondylitis And Its Epidemiologic Characterization

Posted on:2014-01-13Degree:MasterType:Thesis
Country:ChinaCandidate:Z H DuanFull Text:PDF
GTID:2254330401468957Subject:Epidemiology and Health Statistics
Abstract/Summary:
Objective To understand the epidemiology characters of ankylosing spondylitis (AS)and to analyze the disease history and the distribution of AS-related disease index,which may provide clues to pathogenesis.Methods Totally445patients diagnosed as AS from Department of Rheumatologyand Immunology in the First Affiliated Hospita1of Anhui Medical University wereinvestigated by a self-designed survey questionnaire, which include base information,exposure factors, disease history, Bath Ankylosing Spondylitis Disease Activity Index(BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI). Then weanalyse the epidemiologic characterization of AS and compare the relative disease indexbetween the different gender and age-of-onset.Results The average age of onset of AS patients was23.6±8.3years. The male tofemale ratio was5.54:1. There was a significant difference in the onset age of ASbetween male and female patients (t=3.752, P=1.987×10-4).The median of diseaseduration [M(P25, P75)] was4.42(2.04,8.04) years with a significant difference betweenmale and female (Z=2.499, P=0.012).There were50.1%of the patients reported lowback pain or discomfort as the first symptom. The BASFI score was statisticallysignificant between male and female group (Z=2.259, P=0.024), and the distribution ofJoAS and AoAS was statistically significant (χ2=7.647, P=0.006). The total index ofbackache M (P25, P75) was1.00(0.00,5.00) for JoAS and3.00(0.20,5.00) for AoAS (Z=2.071, P=0.038), the BASFI score between JoAS and AoAS was also statistically significant (Z=2.936, P=0.003).Conclusion AS mainly invades young males, and the average age-onset of men is lessthan women. The young men with peripheral joint symptoms or lower back discomfortshould be early screened, particularly for those with family history of seronegativespondyloarthropathy, it is beneficial to early discovery, early diagnosis, early treatmentof AS. Objective: Ankylosing spondylitis (AS) as a member of the group of thespondyloarthropathies with a strong genetic predisposition. AS is a chronicinflammatory and autoimmune disease, it mainly affects joints in the spine and thesacroiliac joint in the pelvis, and can cause eventual fusion of the spine. AS also couldaffect the eyes, heart, lungs and kidneys. In recent years, with the completedconstruction of HapMap (Human Haplotype Map) and SNP (single-nucleotidepolymorphism) haplotype map, lower-cost, highly efficient and high-throughputgenotyping technologies have appeared. Association analysis has become the mosteffective method to explore complex disease. Recently, single-nucleotidepolymorphisms (SNPs) in the Fc gamma receptor IIB (FCGR2B) gene were found to beassociated with several human autoimmune diseases. We undertook the current study toinvestigate the influence of these polymorphisms on the risk of AS.Methods:306patients with AS fulfilling the modified New York Criteria from theDepartment of Rheumatology&Immunology, the First Affiliated Hospital, AnhuiMedical University and300matched healthy controls were analyzed. All subjects weregenotyped for two SNPs (rs1050501, rs10917661) in the FCGR2B gene, and theSNaPshot Assay was used for genotyping.Results: SNP rs10917661was significantly associated with AS(C vs T: OR=1.732,95%CI=1.086-2.733, P=0.020). Genotype frequencies in the AS patients were asfollows:89.8%CC,10.2%CT,0%TT; in the control group:83.3%CC,16.3%CT,0.3%TT; respectively; these distributions were also significantly different (Fisher’s exact test, P=0.026); while no association was found for rs1050501. Furthermore, nohaplotype was found to be associated with AS.Conclusion: These findings indicated that rs10917661may be a novel SNP involved inAS genetic predisposition in the Han Chinese population.
Keywords/Search Tags:Spondylitis, Ankylosing, Epidemiology, Age of OnsetSpondylitis, FCGR2B, Genetic Susceptibility, Polymorphism
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