Suppr超能文献

触珠蛋白基因型及其与 1 型糖尿病无症状性脑小血管病的关系。

Haptoglobin genotype and its relation to asymptomatic cerebral small-vessel disease in type 1 diabetes.

机构信息

Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.

Department of Nephrology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

出版信息

Acta Diabetol. 2023 Jun;60(6):749-756. doi: 10.1007/s00592-023-02059-2. Epub 2023 Mar 1.

Abstract

AIM

Cerebral small-vessel disease (SVD) is prevalent in type 1 diabetes and has been associated with the haptoglobin variant allele Hp1. Contrarily, the Hp2-allele has been linked to cardiovascular disease and the role of haptoglobin-genotype in asymptomatic SVD is unknown. We, therefore, aimed to evaluate the alleles' association with SVD.

METHODS

This cross-sectional study included 179 neurologically asymptomatic adults with type 1 diabetes (women 53%, mean age 39 ± 7 years, diabetes duration 23 ± 10 years, HbA 8.1 ± 3.2% [65 ± 12 mmol/mol]). Examinations included genotyping (genotypes Hp1-1, Hp2-1, Hp2-2) by polymerase chain reaction, clinical investigation, and magnetic resonance brain images assessed for SVD manifestations (white matter hyperintensities, cerebral microbleeds, and lacunar infarcts).

RESULTS

SVD prevalence was 34.6%. Haptoglobin genotype frequencies were 15.6% (Hp1-1), 43.6% (Hp1-2), and 40.8% (Hp2-2). Only diastolic blood pressure differed between the genotypes Hp1-1, Hp1-2, and Hp2-2 (81 [74-83], 75 [70-80], and 75 [72-81] mmHg, p = 0.019). Haptoglobin genotype frequencies by presence versus absence of SVD were 16.1%; 46.8%; 37.1% versus 15.4%; 41.9%; 42.7% (p = 0.758). Minor allele frequencies were 39.5% versus 36.3% (p = 0.553). Hp1 homozygotes and Hp2 carriers displayed equal proportions of SVD (35.7% vs 34.4%, p > 0.999) and SVD manifestations (white matter hyperintensities 14.3% vs 17.9%, p = 0.790; microbleeds 25.0% vs 21.9%, p = 0.904; lacunar infarcts 0% vs 3.6%, p > 0.999). Hp1-1 was not associated with SVD (OR 1.19, 95% CI 0.46-2.94, p = 0.712) when adjusting for age, blood pressure, and diabetic retinopathy.

CONCLUSIONS

Although the SVD prevalence was high, we detected no significant association between SVD and haptoglobin-genotype.

摘要

目的

脑小血管病(SVD)在 1 型糖尿病中很常见,与结合珠蛋白变异等位基因 Hp1 有关。相反,Hp2 等位基因与心血管疾病有关,结合珠蛋白基因型在无症状 SVD 中的作用尚不清楚。因此,我们旨在评估等位基因与 SVD 的关联。

方法

本横断面研究纳入了 179 名神经无症状的 1 型糖尿病成人(女性 53%,平均年龄 39±7 岁,糖尿病病程 23±10 年,HbA1c8.1±3.2%[65±12mmol/mol])。通过聚合酶链反应进行基因型(基因型 Hp1-1、Hp2-1、Hp2-2)检测,进行临床调查,并进行磁共振脑成像评估 SVD 表现(脑白质高信号、脑微出血和腔隙性梗死)。

结果

SVD 患病率为 34.6%。结合珠蛋白基因型频率分别为 15.6%(Hp1-1)、43.6%(Hp1-2)和 40.8%(Hp2-2)。只有舒张压在 Hp1-1、Hp1-2 和 Hp2-2 基因型之间存在差异(81[74-83]、75[70-80]和 75[72-81]mmHg,p=0.019)。有 SVD 与无 SVD 患者的结合珠蛋白基因型频率分别为 16.1%、46.8%、37.1%和 15.4%、41.9%、42.7%(p=0.758)。次要等位基因频率分别为 39.5%和 36.3%(p=0.553)。Hp1 纯合子和 Hp2 携带者的 SVD 比例相等(35.7%与 34.4%,p>0.999)和 SVD 表现(脑白质高信号 14.3%与 17.9%,p=0.790;微出血 25.0%与 21.9%,p=0.904;腔隙性梗死 0%与 3.6%,p>0.999)。调整年龄、血压和糖尿病视网膜病变后,Hp1-1 与 SVD 无显著相关性(OR 1.19,95%CI 0.46-2.94,p=0.712)。

结论

尽管 SVD 的患病率较高,但我们未发现 SVD 与结合珠蛋白基因型之间存在显著关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc41/10148779/3514cbffeb3d/592_2023_2059_Fig1_HTML.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验