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墨西哥梅斯蒂索人腹主动脉瘤患者中HLA-DRB1等位基因的遗传多态性。

Genetic polymorphism of HLA-DRB1 alleles in Mexican mestizo patients with abdominal aortic aneurysms.

作者信息

Anaya-Ayala Javier E, Hernandez-Doño Susana, Escamilla-Tilch Monica, Marquez-Garcia Jose, Hernandez-Sotelo Kemberly, Lozano-Corona Rodrigo, Ruiz-Gomez Daniela, Granados Julio, Hinojosa Carlos A

机构信息

Department of Surgery, Section of Vascular Surgery and Endovascular Therapy, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubirán, Vasco De Quiroga 15, Tlalpan, Sección XVI, 14080, México City, Mexico.

Universidad Nacional Autonoma de Mexico, Faculty of Medicine, Division for Postgraduate Studies, Master and Doctoral Degree Program, Mexico City, Mexico.

出版信息

BMC Med Genet. 2019 Jun 7;20(1):102. doi: 10.1186/s12881-019-0833-8.

Abstract

BACKGROUND

Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, genetic predisposition and ethnic susceptibility. Due to the association with autoimmune diseases and proven application in population genetics, we aimed to investigate alleles of the Class II Human Leukocyte Antigens (HLA-DRB1) in the Mexican Mestizo population with aortic aneurysms and determine possible associations with susceptibility.

METHODS

We performed a case Control Study; the HLA molecular typing was completed for DRB1 loci by LabType Sequence-Specific Oligonucleotide (SSO) SSO-OneLambda kit (Applied Biosystems; Thermo Fisher Scientific. Inc.) in the studied individuals. Allele frequencies (af) were determined, associations were assessed by chi square or fisher exact tests at significance level (< 0.05), and Odds Ratios (OR) were calculated using the STATA software version 14.

RESULTS

The genetic polymorphism of HLA-DRB1 of fifty one patients (70% males with a mean age of 71 years) with atherosclerotic or also known as degenerative AAA were compared with 99 unrelated patients (60% males, mean age 65 years) without the disease [Control group (CG)] from the same ethnic group. We examined a total of 102 Class II HLA-DRB1 alleles of AAA patients and 198 from CG. When comparing af, we observed the HLA-DRB101 af of 0.139 in the AAA compared to 0.05 in the CG [p = 0.015, OR 3, 95% confidence interval (CI) 1.29-7.08], the HLA-DRB116 af were 0.109 in the AAA and 0.025 in CG (p = 0.006, OR 4.7, 95% CI 1.59-13.98).

CONCLUSIONS

Our study confirmed increased frequencies of the alleles HLA-DRB101 and HLA-DRB116 and their association to the development of AAA in Mexican Mestizo patients. The utility of genetic testing may assist in identifying individuals at genetic risk for the development of this disease in different ethnic groups, who might benefit from earlier ultrasound screening and closer imaging surveillance.

摘要

背景

腹主动脉瘤(AAA)的病因和发病机制涉及多种因素。先前的遗传学研究文献表明自身免疫、遗传易感性和种族易感性可能发挥作用。由于与自身免疫性疾病相关且在群体遗传学中有已证实的应用,我们旨在研究患有主动脉瘤的墨西哥混血人群中Ⅱ类人类白细胞抗原(HLA - DRB1)的等位基因,并确定其与易感性的可能关联。

方法

我们进行了一项病例对照研究;通过LabType序列特异性寡核苷酸(SSO)SSO - OneLambda试剂盒(应用生物系统公司;赛默飞世尔科技公司)对研究对象的DRB1基因座完成HLA分子分型。确定等位基因频率(af),通过卡方检验或费舍尔精确检验在显著性水平(<0.05)下评估关联,并使用STATA软件版本14计算优势比(OR)。

结果

将51例患有动脉粥样硬化性或也称为退行性AAA的患者(70%为男性,平均年龄71岁)的HLA - DRB1基因多态性与来自同一族群的99例无该疾病的无关患者(60%为男性,平均年龄65岁)[对照组(CG)]进行比较。我们共检测了AAA患者的102个Ⅱ类HLA - DRB1等位基因和对照组的198个。比较等位基因频率时,我们观察到AAA患者中HLA - DRB101的等位基因频率为0.139,而对照组为0.05 [p = 0.015,OR 3,95%置信区间(CI)1.29 - 7.08],AAA患者中HLA - DRB116的等位基因频率为0.109,对照组为0.025(p = 0.006,OR 4.

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8068/6555914/f14c816ac128/12881_2019_833_Fig1_HTML.jpg

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