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HLA-B27、IL-23R和ERAP1多态性与中国强直性脊柱炎患者的相关性研究

作　者: 庞卡子
导　师: 胡丽华
学　校: 华中科技大学
专　业: 临床诊断学
关键词: WTCC ERAP1 AS IL23R
分类号: R593.23
类　型: 硕士论文
年　份: 2011年
下　载: 10次
引　用: 0次
阅　读: 论文下载

内容摘要

Background: Although HLA-B27 is recognized to be the major gene associated with AS, a role for genes outside the HLA region (non-MHC) is increasingly being recognized, among which interlukin23R and ERAP1 are recently been suggested to be associated with AS by studied performed on a gene-targeted association study of 14500 ncSNP in 1000 AS cases and 1500 controls by (WTCCC-TASC) in 2007. We here aim to see the relationship between HLA-B27, IL23R and ERAP1 polymorphism in Chinese AS patients.Methods: A total of 248 Patients attending orthopedics, rheumatology, and physiotherapy clinic of union Hospital and Tongji medical College were selected. Among these 248, 84(74 Male/ 10 Female) patients satisfied the modified New York criteria of AS.360 ethnically related healthy controls that did not have any previous autoimmune diseases were also included for our study. The AS populations included of 84 patients (35±8.79) years (mean±standard deviation). The mean BASDAI Score (Bath AS Disease Activity Index) and BASFAI (Bath AS Function al Index) was 3.7 Years (SD 2.0) and 2.3 (SD 2.2) respectively.Results: The mean BASDAI, BASFI, and ESR and CRP for as patients were 5.4(SD 1.7), 4.7(SD 2.5), 56.97 mm/h (SD 11.45) and 38.33 mg/L (SD 27.03) respectively. The 6 types of HLA-B27 found were (B*2702, 03,04,05,06 and B* 2713).Four alleles were detected both in AS patients and in controls (B*2702, 03, 04 and B*2705).B*2704 and B*2705 were predominant alleles in the AS group and controls. In total 5 SNP within the IL23R were genotyped. The result showed no association of IL23R polymorphism with AS. The four genotypes selected for ERAP1 (rs30187, rs10050860, rs27044, rs30187) for genotyping were in Hardy Weinberg equilibrium .Significant positive association of AS with ERAP1 SNPS rs27044 (p=9.36X10-7) and rs30187 (p=7.32X10-6) was seen. The four SNPrs17482087.rs10050860, rs27044 and rs30187 formed a LD Block with D ranging from 95 to 100, indicating strong or complete association .two haplotype showed association with AS(GCCT:P=4.71x10-7 , CCCC:P=8.56x10-6) . Conclusion: Our result confirms IL23R polymorphism is not associated in Chinese AS patients while ERAP1 is associated with AS Chinese as Caucasians.

全文目录

ABSTRACT  5-7
1. INTRODUCTION  7-26
  1.1 Ankylosing Spondylitis  8-10
  1.2 Measuring Disease activity in Ankylosing Spondylitis  10
  1.3 Modified New York criteria for diagnosis of AS (33)  10-11
  1.4 Incidence of Ankylosing Spondylitis  11-12
  1.5 Risk Factors for Ankylosing Spondylitis include  12-15
    1.5.1 Genetic predisposition  12-13
    1.5.2 Immune Response Mediators  13-15
  1.6 HLA -B27  15-20
    1.6.1 Changes in the HLA-B gene related to health conditions  15-16
    1.6.2 Classification of HLA  16-19
    1.6.3 Prevalence of HLA-B27 world population  19-20
  1.7 Spondylarthropathies  20-21
  1.8 INTERLEUKIN 23R (interleukin 23 receptor)  21-23
    1.8.1 Changes in the IL23R gene related to health conditions  21-22
    1.8.2 Location of IL23R gene  22-23
  1.9 ERAP1  23-26
    1.9.1Changes in the ERAP1 gene related to health conditions ankylosing spondylitis –  25
    1.9.2 Location of ERAP1 gene  25-26
2. METHODOLOGY  26-34
  2.1 AIMS AND OBJECTIVES  26-27
  2.2 PATIENTS AND CONTROLS  27-28
  2.3 First Part for HLA-B27  28-30
  2.4 Second Part for IL23R  30-32
  2.5 Third Part for ERAP1  32
  2.6 Statistical Analysis  32-34
3. RESULTS  34-37
4. DISCUSSION  37-39
5. CONCLUSION  39-40
6. REFERENCES  40-45
7. ACKNOWLEDGEMENT  45

HLA-B27、IL-23R和ERAP1多态性与中国强直性脊柱炎患者的相关性研究

内容摘要

全文目录

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