Assessment of potential genetic markers for diabetic foot ulcer among Moscow residents.

IF 3 3区医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrine Pub Date : 2024-12-01 Epub Date: 2024-07-17 DOI:10.1007/s12020-024-03966-2

Lev A Usakin, Nadezhda V Maksimova, Ekaterina D Pesheva, Ekaterina L Zaitseva, Alla Yu Tokmakova, Andrey A Panteleyev

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Abstract

Purpose: Diabetic foot ulcer (DFU) is one of the most severe complications of type 2 diabetes, which is manifested in chronic skin ulcers of lower extremities. DFU treatment remains complex and expensive despite the availability of well-established protocols. Early prediction of potential DFU development at the onset of type 2 diabetes can greatly improve the aftermath of this complication.

Methods: To assess potential genetic markers for DFU, a group of diabetic patients from Moscow region with and without DFU was genotyped for a number of SNPs previously reported to be associated with the DFU.

Results: Obtained results did not confirm previously claimed association of rs1024611, rs3918242, rs2073618, rs1800629, rs4986790, rs179998, rs1963645 and rs11549465 (respectively, in MCP1, MMP9, TNFRSF11B, TNFα, TLR4, eNOS, NOS1AP and HIF1α genes) with the DFU. Surprisingly, the t allele of rs7903146 in the TCF7l2 gene known as one of the most prominent risk factors for type 2 diabetes has shown a protective effect on DFU with OR(95%) = 0.68(0.48-0.96).

Conclusion: Non-replication of previously published SNP associations with DFU suggests that the role of genetic factors in the DFU onset is either highly variable in different populations or is not as significant as the role of non-genetic factors.

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评估莫斯科居民糖尿病足溃疡的潜在遗传标记。

目的：糖尿病足溃疡（DFU）是 2 型糖尿病最严重的并发症之一，表现为下肢慢性皮肤溃疡。尽管已有成熟的治疗方案，但糖尿病足溃疡的治疗仍然复杂而昂贵。在2型糖尿病发病初期及早预测DFU的可能发展，可大大改善这一并发症的后遗症：方法：为了评估 DFU 的潜在遗传标记，对莫斯科地区一组有 DFU 和无 DFU 的糖尿病患者进行了基因分型，检测了之前报道的与 DFU 相关的一些 SNPs：结果：所获得的结果并未证实之前声称的 rs1024611、rs3918242、rs2073618、rs1800629、rs4986790、rs179998、rs1963645 和 rs11549465（分别位于 MCP1、MMP9、TNFRSF11B、TNFα、TLR4、eNOS、NOS1AP 和 HIF1α 基因中）与 DFU 的关联。令人惊讶的是，被称为 2 型糖尿病最主要风险因素之一的 TCF7l2 基因中 rs7903146 的 t 等位基因对 DFU 有保护作用，OR(95%) = 0.68(0.48-0.96) ：结论：先前发表的 SNP 与 DFU 相关性未被复制，这表明遗传因素在 DFU 发病中的作用在不同人群中存在很大差异，或者不如非遗传因素的作用显著。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Endocrine ENDOCRINOLOGY & METABOLISM-

CiteScore

6.50

自引率

5.40%

发文量

295

审稿时长

1.5 months

期刊介绍： Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.