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[基因名称1]、[基因名称2]和[基因名称3]多态性与强直性脊柱炎影像学严重程度的关联

Association of , and Polymorphisms with Radiographic Severity of Ankylosing Spondylitis.

作者信息

Ozen Gulsen, Deniz Rabia, Eren Fatih, Erzik Can, Unal Ali Ugur, Yavuz Sule, Aydin Sibel Zehra, Inanc Nevsun, Direskeneli Haner, Atagunduz Pamir

机构信息

Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, Turkey.

Department of Internal Medicine, Faculty of Medicine, Marmara University, Istanbul, Turkey.

出版信息

Open Rheumatol J. 2017 Jan 16;11:1-9. doi: 10.2174/1874312901711010001. eCollection 2017.

Abstract

BACKGROUND

Radiographic severity of ankylosing spondylitis (AS) shows such great variance that some patients never develop syndesmophytes throughout the entire disease span, whereas some develop bamboo spine relatively early.

OBJECTIVE

To study the association between , and single nucleotide polymorphisms (SNPs) and radiographic severity in AS patients.

METHODS

rs27044 and rs30187 (), rs11209032 () and rs10440635 () SNPs were genotyped in 235 AS patients fulfilling the modified New York criteria. Patients were classified as mild- and severe-AS according to modified Stoke AS spinal score (mSASSS). Mild-AS is defined as having mSASSS of "0" following at least 10 years of disease duration. Severe-AS is defined as having mSASSS of >20 (patients with mild vertebral changes ( squaring or erosions) were omitted for clear stratification) regardless of disease duration.

RESULTS

The genotype distributions and allele frequencies of rs27044 and rs30187, rs11209032 and rs10440635 SNPs were similar in mild- (n=171, mSASSS=0, 55.6% HLA-B27 positive) and severe-AS patients (n=64, mSASSS=48.5±17.8, 73.4% HLA-B27 positive). After adjustment for clinical differences between groups (gender, disease duration, HLA-B27 and smoking status) by logistic regression analysis, none of the alleles in the investigated SNPs were found to be associated with radiographic severity of AS.

CONCLUSION

In radiographically well-categorized AS patients, rs27044 and rs30187, rs11209032 and rs10440635 SNPs are not found to be associated with radiographic severity of AS.

摘要

背景

强直性脊柱炎(AS)的影像学严重程度差异很大,一些患者在整个疾病过程中从未出现韧带骨赘,而一些患者则相对较早地发展为竹节样脊柱。

目的

研究[具体基因名称未给出]单核苷酸多态性(SNP)与AS患者影像学严重程度之间的关联。

方法

对235例符合改良纽约标准的AS患者进行rs27044和rs30187([具体基因名称未给出])、rs11209032([具体基因名称未给出])和rs10440635([具体基因名称未给出])SNP基因分型。根据改良斯托克AS脊柱评分(mSASSS)将患者分为轻度AS和重度AS。轻度AS定义为疾病持续至少10年后mSASSS为“0”。重度AS定义为无论疾病持续时间如何,mSASSS>20(为了清晰分层,排除轻度椎体改变(椎体方形变或侵蚀)的患者)。

结果

轻度AS患者(n = 171,mSASSS = 0,55.6% HLA - B27阳性)和重度AS患者(n = 64,mSASSS = 48.5±17.8,73.4% HLA - B27阳性)中,rs27044和rs30187、rs11209032和rs10440635 SNP的基因型分布和等位基因频率相似。通过逻辑回归分析对组间临床差异(性别、疾病持续时间、HLA - B27和吸烟状态)进行校正后,未发现所研究SNP中的任何等位基因与AS的影像学严重程度相关。

结论

在影像学分类明确的AS患者中,未发现rs27044和rs30187、rs11209032和rs10440635 SNP与AS的影像学严重程度相关。

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