Suppr超能文献

伊朗人群中ELMO1基因多态性与糖尿病肾病的关联

Association between ELMO1 gene polymorphisms and diabetic nephropathy in an Iranian population.

作者信息

Mehrabzadeh Mohsen, Pasalar Parvin, Karimi Mostafa, Abdollahi Maryam, Daneshpour Maryam, Asadolahpour Effat, Razi Farideh

机构信息

Department of Medical Biochemistry, Tehran University of Medical Sciences, Tehran, Iran.

Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Science Institute, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

J Diabetes Metab Disord. 2016 Oct 7;15:43. doi: 10.1186/s40200-016-0265-3. eCollection 2015.

Abstract

BACKGROUND

Diabetic nephropathy (DN) is one of the leading causes of death in patients with type 2 diabetes mellitus (T2DM). Several genome-wide association studies have introduced Engulfment and Cell Motility 1 (ELMO1) as a candidate gene which is associated with DN. This study assessed the association of ELMO1 gene polymorphisms with DN in order to investigate the effects of ELMO1 gene on susceptibility to DN in an Iranian population.

METHODS

In the present study, 100 patients with T2DM, 100 patients with DN and 100 healthy subjects who were matched for sex were selected. Allele and genotype frequencies were determined by Tetra-ARMS PCR technique. In all groups, levels of FBS, creatinine, urea, HbA1C, urine levels of albumin creatinine ratio and glomerular filtration rate were measured.

RESULTS

A statistically significant association was shown between G allele of rs741301 (odds ratio (OR) = 1.7 [95 % CI 1.17-2.63]; value = 0.005), and GG genotypes of rs741301 (OR = 2.5 [95 % CI 1.2-5.4]; value = 0.01) and DN. A significant association was not detected between allelic and genotypic frequencies of rs1345365 and DN. Linkage Disequilibrium (LD) between two variants was weak (D' = 0.11, r2 = 0.008). rs1345365A/rs741301A haplotypes were more frequent in patients with T2DM as compared to DN (OR = 0.5 [95 % CI 0.3-0.7]; value = 0.0006). Also, genotypes of variant rs741301 in all subjects had significant difference with respect to the mean of ACR ( Value < 0.05).

CONCLUSION

This study first investigated the association of ELMO1 gene polymorphisms (rs741301) with DN in an Iranian population, supporting its key role as a candidate gene in the susceptibility to DN.

摘要

背景

糖尿病肾病(DN)是2型糖尿病(T2DM)患者的主要死亡原因之一。多项全基因组关联研究已将吞噬与细胞运动蛋白1(ELMO1)作为与DN相关的候选基因。本研究评估ELMO1基因多态性与DN的关联,以探讨ELMO1基因对伊朗人群DN易感性的影响。

方法

在本研究中,选取了100例T2DM患者、100例DN患者和100例性别匹配的健康受试者。采用四引物扩增受阻突变系统聚合酶链反应(Tetra-ARMS PCR)技术测定等位基因和基因型频率。在所有组中,测量空腹血糖(FBS)、肌酐、尿素、糖化血红蛋白(HbA1C)、尿白蛋白肌酐比值和肾小球滤过率水平。

结果

rs741301的G等位基因(比值比(OR)=1.7 [95%置信区间1.17 - 2.63];P值=0.005)以及rs741301的GG基因型(OR = 2.5 [95%置信区间1.2 - 5.4];P值=0.01)与DN之间存在统计学显著关联。未检测到rs1345365的等位基因和基因型频率与DN之间存在显著关联。两个变体之间的连锁不平衡(LD)较弱(D' = 0.11,r2 = 0.008)。与DN相比,rs1345365A/rs741301A单倍型在T2DM患者中更常见(OR = 0.5 [9,5%置信区间0.3 - 0.7];P值=0.0006)。此外,所有受试者中rs741301变体的基因型在尿白蛋白肌酐比值(ACR)平均值方面存在显著差异(P值<0.05)。

结论

本研究首次在伊朗人群中调查了ELMO1基因多态性(rs741301)与DN的关联,支持其作为DN易感性候选基因的关键作用。

相似文献

1
Association between ELMO1 gene polymorphisms and diabetic nephropathy in an Iranian population.
J Diabetes Metab Disord. 2016 Oct 7;15:43. doi: 10.1186/s40200-016-0265-3. eCollection 2015.
2
Association of ELMO1 gene polymorphisms with diabetic nephropathy in Chinese population.
J Endocrinol Invest. 2013 May;36(5):298-302. doi: 10.3275/8525. Epub 2012 Jul 24.
3
Association between engulfment and cell motility 1-gene polymorphisms and diabetic nephropathy in an Egyptian population with type 2 diabetes.
J Diabetes Metab Disord. 2022 Feb 10;21(1):439-444. doi: 10.1007/s40200-022-00990-9. eCollection 2022 Jun.
4
Interaction between gene polymorphisms and environment factors on susceptibility to diabetic nephropathy in Chinese Han population.
Diabetol Metab Syndr. 2019 Nov 27;11:97. doi: 10.1186/s13098-019-0492-0. eCollection 2019.
5
Association of rs11643718 SLC12A3 and rs741301 ELMO1 Variants with Diabetic Nephropathy in South Indian Population.
Ann Hum Genet. 2016 Nov;80(6):336-341. doi: 10.1111/ahg.12174. Epub 2016 Oct 4.
6
Association of ELMO1 gene polymorphism and diabetic nephropathy among Egyptian patients with type 2 diabetes mellitus.
Diabetes Metab Res Rev. 2020 Jul;36(5):e3299. doi: 10.1002/dmrr.3299. Epub 2020 Feb 27.
9
The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome Incidence.
Biochem Genet. 2024 Apr;62(2):1304-1324. doi: 10.1007/s10528-023-10481-y. Epub 2023 Aug 18.

引用本文的文献

3
Association between ELMO1 gene polymorphisms and diabetic kidney disease: A systematic review and meta-analysis.
PLoS One. 2024 Jan 26;19(1):e0295607. doi: 10.1371/journal.pone.0295607. eCollection 2024.
4
Association between engulfment and cell motility 1-gene polymorphisms and diabetic nephropathy in an Egyptian population with type 2 diabetes.
J Diabetes Metab Disord. 2022 Feb 10;21(1):439-444. doi: 10.1007/s40200-022-00990-9. eCollection 2022 Jun.
5
Single-nucleotide polymorphisms as important risk factors of diabetes among Middle East population.
Hum Genomics. 2022 Apr 2;16(1):11. doi: 10.1186/s40246-022-00383-2.
6
WT1 and ACE mRNAs of blood extracellular vesicle as biomarkers of diabetic nephropathy.
J Transl Med. 2021 Jul 10;19(1):299. doi: 10.1186/s12967-021-02964-6.
8
The Role of ERRFI1+808T/G Polymorphism in Diabetic Nephropathy.
Int J Mol Cell Med. 2019 Winter;8(Suppl1):49-55. doi: 10.22088/IJMCM.BUMS.8.2.49. Epub 2019 Jun 15.
9
Interaction between gene polymorphisms and environment factors on susceptibility to diabetic nephropathy in Chinese Han population.
Diabetol Metab Syndr. 2019 Nov 27;11:97. doi: 10.1186/s13098-019-0492-0. eCollection 2019.
10
Genetic and Epigenetic Studies in Diabetic Kidney Disease.
Front Genet. 2019 Jun 7;10:507. doi: 10.3389/fgene.2019.00507. eCollection 2019.

本文引用的文献

1
Diabetic Nephropathy: Perspective on Novel Molecular Mechanisms.
Trends Endocrinol Metab. 2016 Nov;27(11):820-830. doi: 10.1016/j.tem.2016.07.002. Epub 2016 Jul 25.
2
Complication in diabetic nephropathy.
Diabetes Metab Syndr. 2016 Oct-Dec;10(4):247-249. doi: 10.1016/j.dsx.2016.06.005. Epub 2016 Jun 18.
3
Glucose Homeostasis and Cardiovascular Alterations in Diabetes.
Compr Physiol. 2015 Sep 20;5(4):1815-39. doi: 10.1002/cphy.c150001.
4
US Renal Data System 2014 Annual Data Report: Epidemiology of Kidney Disease in the United States.
Am J Kidney Dis. 2015 Jul;66(1 Suppl 1):Svii, S1-305. doi: 10.1053/j.ajkd.2015.05.001.
5
Recent progress in the genetics of diabetic microvascular complications.
World J Diabetes. 2015 Jun 10;6(5):715-25. doi: 10.4239/wjd.v6.i5.715.
6
Genetics of diabetic nephropathy: a long road of discovery.
Curr Diab Rep. 2015 Jul;15(7):41. doi: 10.1007/s11892-015-0610-9.
7
The Economic Costs of Type 2 Diabetes: A Global Systematic Review.
Pharmacoeconomics. 2015 Aug;33(8):811-31. doi: 10.1007/s40273-015-0268-9.
8
Association of genetic variants with diabetic nephropathy.
World J Diabetes. 2014 Dec 15;5(6):809-16. doi: 10.4239/wjd.v5.i6.809.
9
Guidelines for the tetra-primer ARMS-PCR technique development.
Mol Biotechnol. 2014 Jul;56(7):599-608. doi: 10.1007/s12033-014-9734-4.

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