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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:

29卷

期数:

2023年02期

页码:

161-164，187

栏目:

临床医学

出版日期:

2023-03-20

文章信息/Info

Title:

Association between STAT4 rs3024877 single nucleotide polymorphisms and ANCA associated vasculitis

文章编号:

1006-8147（2023）02-0161-05

作者:

曹越琦¹; 薛超²

1.天津医科大学第二医院肾 脏病血液净化科，天津 300211;2.广西医科大学第二附属医院肾 内科，南宁530007

Author(s):

CAO Yue-qi¹; XUE Chao²

1.Department of Kidney Disease and Blood Purification，The Second Hospital，Tianjin Medical University，Tianjin 300211，China;2.Department of Nephrology，The Second Affiliated Hospital of Guangxi Medical University，Nanning 530007，China

关键词:

ANCA相关性血管炎; 单核苷酸多态性; STAT4

Keywords:

ANCA associated vasculitis; single nucleotide polymorphism; STAT4

分类号:

R593

DOI:

-

文献标志码:

A

摘要:

目的：分析STAT4rs3024877多态性与原发性中性粒细胞胞浆抗体（ANCA）相关性血管炎（AAV）易感性及肾损害病理特点的关联。方法：研究对象为2005年1月—2018年12月于广西医科大学第二附属医院就诊的AAV患者（AAV组，145例）和健康体检者（对照组，216名），比较AAV组不同性别、基因型间实验室指标的差异。基因分型采取多重聚合酶链式反应-高通量测序（MPCR-HTS）的方法，比较两组间基因型、等位基因的分布频率差异。根据肾脏穿刺结果，分析不同基因型、等位基因与AAV患者肾脏病理类型的相关性。结果：AAV组中，女性比男性患者具有较低的白细胞（t=-2.00，P=0.04）、红细胞计数（t=-2.00，P=0.04），较高的免疫球蛋白M水平（t=-1.99，P=0.04）。AAV组TT和CC基因型、T等位基因频率高于对照组，CT基因型、C等位基因频率低于对照组，分布差异均无统计学意义（基因型：χ2=0.764，P=0.682；等位基因：χ2=0.064，P=0.801）；AAV肾损害不同病理类型间的基因型、等位基因频率差异均有统计学意义（基因型：χ2=16.017，P=0.001；等位基因：χ2=14.306，P=0.003），Logistic回归分析提示，T等位基因为新月体型（OR=7.273，95%CI：1.897~28.145，χ2=8.258，P=0.004）、混合型（OR=4.364，95%CI：1.060~17.961，χ2=4.165，P=0.041）的危险因素；TT基因型为新月体型（OR=16.000，95%CI：2.558~127.925，χ2=6.833，P=0.009）、混合型（OR=16.000，95%CI：2.001~17.961，χ2=4.165，P=0.041）的危险因素。结论：STAT4rs3024877基因多态性与AAV易感性不相关，与肾损害病理类型关联。

Abstract:

Objective：To evaluate the association between STAT4 rs3024877 polymorphism and susceptibility in anti-neutrophilic cytoplasmic antibody（ANCA）associated vasculitis（AAV），as well as the pathological characteristics of renal damage. Methods：A total of 145 primary AAV patients（case group）and 216 healthy volunteers（control group）who visited the Second Affiliated Hospital of Guangxi Medical University from January 2005 to December 2018 were contained. the differences of laboratory indicators between genders and genotypes in AAV group were compared. Multiple polymerase chain reaction-high-throughput sequencing（MPCR-HTS） method was used for genotyping to compare the distribution of genotype and allele frequencies between the two groups. The correlation between different genotypes，alleles and the renal pathological characteristics of AAV patients was analyzed according to the renal biopsy. Results：In case group，female patients had lower white blood cell count（t=-2.00，P=0.04）and red blood cell count（t=-2.00，P=0.04）， higher immunoglobulin M count（t=-1.99，P=0.04）than male patients. The distribution of TT，CC genotype and T allele frequencies in case group was higher than that in control group，while the distribution of CT genotype and C allele frequencies was lower than that in control group，there were no significant differences in genotype and allele distribution between the two groups （genotype：χ2=0.764， P=0.682；allele：χ2=0.064，P=0.801）. The distribution of genotype and allele frequencies in different pathological types were statistically significant（genotype ：χ2=16 . 017 ，P=0 . 001 ；allele ：χ2=14 . 306 ，P=0 . 003）. Logistic regression analysis showed that T allele was the risk factor of crescent type（OR=7.273，95%CI：1.897-28.145，χ2=8.258，P=0.004）and mixed type（OR=4.364，95%CI：1.060-17.961，χ2=4.165，P=0.041）. T allele was the risk factor of crescent type（OR=16.000，95%CI：2.558-127.925，χ2=6.833， P=0.009）and mixed type（OR=16.000，95%CI：2.001-17.961，χ2=4.165，P=0.041）. Conclusion：The polymorphism of STAT4 rs 3024877 gene is not associated with the susceptibility of AAV，but has association with the pathological characteristics of renal damage.

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[1]孟庆娅,詹江华.天津地区肠无神经节细胞症RET基因13号外显子基因多态性研究[J].天津医科大学学报,2014,20(02):108.
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备注/Memo

备注/Memo:

基金项目：国家自然科学基金（81360117）
作者简介：曹越琦（1993-），女，医师，硕士，研究方向：血管炎肾损害及终末肾脏病；
通信作者：薛超，E-mail：xccqh@126.com。

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更新日期/Last Update: 2023-04-30