journal article·2023-05-30Open access

Associations between Genetic Variants in DAB, PRKAG, and DACH Genes and Gender in Chronic Kidney Disease

Gabriella Kecskemétiné, Katalin Szilvia Zsóri, Sándor Kőmives, Mária Sohajda, Zoltán Csiki, János Mátyus, László Újhelyi, József Balla, Attila Nagy, Amir Houshang Shemirani

Applied Sciences· Volume 13· Issue 11

Abstract

Background: Recent genome-wide association studies demonstrated the association between the prevalence of chronic kidney disease (CKD) and rs11959928, rs626277, and rs7805747 polymorphisms. Materials and Methods: In this study, we investigated the association between CKD and these polymorphisms in patients and controls according to gender. High-resolution melting analysis was performed to detect DAB2 rs11959928, DACH1 rs626277, and PRKAG2 rs7805747 single nucleotide polymorphisms. Genomic DNA was extracted from the buffy coat of 163 patients with chronic renal disease and 218 control individuals. Ten percent of the results were also randomly confirmed by direct DNA sequencing. Results: Multivariable logistic regression analysis with adjustment for confounders showed rs7805747 (dominant model) has a statistically significant protective effect in females, and rs11959928 (additive and dominant models) was significantly associated with the prevalence of CKD in males. rs7805747 (recessive model) was significantly associated with the prevalence of CKD in males. Conclusion: The very same genetic variants have different effects in males and females separately. Our results warrant the need for similar studies in larger cohorts.
Source: crossref · Quality: baseline

Research context

OpenAlex topics: Birth, Development, and Health · Genetic Associations and Epidemiology · Epigenetics and DNA Methylation

SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.

Affiliations

Clinical Laboratory Research Division, Laboratory Medicine, University of Debrecen, Medical and Health Science Center, 4032 Debrecen, Hungary

Central Laboratory, Gróf Tisza Hospital, 4100 Berettyóújfalu, Hungary

Central Pharmacy, Szent Borbála Hospital, 2800 Tatabánya, Hungary

Department of Internal Medicine, Erzsébet Hospital, 3980 Sátoraljaújhely, Hungary

Department of Neurology, Erzsébet Hospital, 3980 Sátoraljaújhely, Hungary

Department of Internal Medicine, University of Debrecen, 4032 Debrecen, Hungary

Department of Nephrology, University of Debrecen, 4032 Debrecen, Hungary

Dialysis Center, Erzsébet Hospital, 3980 Sátoraljaújhely, Hungary

LabPharm Kft, 3980 Sátoraljaújhely, Hungary

Integrated Central Laboratory, Szent Borbála Hospital, 2800 Tatabánya, Hungary

Funding

Új Szécsényi Terv Gazdaságfejlesztési Operatív Program

References (26)

Show source-provided references
1. Association of egfr-related loci identified by gwas with incident ckd and esrd10.1371/journal.pgen.1002292 ↗
2. Epidemiology of chronic kidney disease: An update 202210.1016/j.kisu.2021.11.003 ↗
3. Defining incident chronic kidney disease in the research setting: The aric study10.1093/aje/kwp151 ↗
4. Sex-related disparities in ckd progression10.1681/ASN.2018030296 ↗
5. ACE DD genotype associated with the female chronic kidney disease patients of tamilnadu population10.1016/j.ejmhg.2014.10.002 ↗
6. Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease10.1038/s41591-018-0194-4 ↗
7. The transcription factor dach1 is essential for podocyte function10.1111/jcmm.13544 ↗
8. Endogenous Dach1 in cancer10.18632/oncoscience.251 ↗
9. Transcription elongation regulator 1 is a co-integrator of the cell fate determination factor Dachshund homolog 110.1074/jbc.M110.156141 ↗
10. DACH1 is a cell fate determination factor that inhibits cyclin D1 and breast tumor growth10.1128/MCB.00268-06 ↗
11. DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity10.1172/JCI141279 ↗
12. Transcriptome-wide association analysis identifies dach1 as a kidney disease risk gene that contributes to fibrosis10.1172/JCI141801 ↗
13. Functional prediction of chronic kidney disease susceptibility gene prkag2 by comprehensively bioinformatics analysis10.3389/fgene.2018.00573 ↗
14. A new equation to estimate glomerular filtration rate10.7326/0003-4819-150-9-200905050-00006 ↗
15. K/doqi clinical practice guidelines for chronic kidney disease: Evaluation, classification, and stratification
16. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons10.1373/clinchem.2004.032136 ↗
17. High-resolution melting: Applications in genetic disorders10.1016/j.cca.2012.09.012 ↗
18. Megalin and nonmuscle myosin heavy chain iia interact with the adaptor protein disabled-2 in proximal tubule cells10.1038/ki.2009.85 ↗
19. New loci associated with kidney function and chronic kidney disease10.1038/ng.568 ↗
20. Genetic-variation-driven gene-expression changes highlight genes with important functions for kidney disease10.1016/j.ajhg.2017.05.004 ↗
21. Fatal congenital heart glycogenosis caused by a recurrent activating r531q mutation in the gamma 2-subunit of amp-activated protein kinase (prkag2), not by phosphorylase kinase deficiency10.1086/430840 ↗
22. Genetic loci influencing kidney function and chronic kidney disease10.1038/ng.566 ↗
23. Integrative analysis of prkag2 cardiomyopathy ips and microtissue models identifies ampk as a regulator of metabolism, survival, and fibrosis10.1016/j.celrep.2017.05.038 ↗
24. A novel, de novo mutation in the prkag2 gene: Infantile-onset phenotype and the signaling pathway involved10.1152/ajpheart.00813.2016 ↗
25. Meta-analysis identifies multiple loci associated with kidney function-related traits in east asian populations10.1038/ng.2352 ↗
26. Genetic associations of ppargc1a with type 2 diabetes: Differences among populations with african origins10.1155/2015/921274 ↗