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

被引：1

作者：

Kecskemetine, Gabriella ^{[1
,2
]}

Zsori, Katalin Szilvia ^{[3
]}

Komives, Sandor ^{[4
]}

Sohajda, Maria ^{[5
]}

Csiki, Zoltan ^{[6
]}

Matyus, Janos ^{[7
]}

Ujhelyi, Laszlo ^{[7
]}

Balla, Jozsef ^{[7
]}

Nagy, Attila ^{[8
]}

Shemirani, Amir Houshang ^{[1
,9
,10
]}

机构：

[1] Univ Debrecen, Med & Hlth Sci Ctr, Clin Lab Res Div, Lab Med, H-4032 Debrecen, Hungary

[2] Grof Tisza Hosp, Cent Lab, H-4100 Berettyoujfalu, Hungary

[3] Szent Borbala Hosp, Cent Pharm, H-2800 Tatabanya, Hungary

[4] Erzsebet Hosp, Dept Internal Med, H-3980 Satoraljaujhely, Hungary

[5] Erzsebet Hosp, Dept Neurol, H-3980 Satoraljaujhely, Hungary

[6] Univ Debrecen, Dept Internal Med, H-4032 Debrecen, Hungary

[7] Univ Debrecen, Dept Nephrol, H-4032 Debrecen, Hungary

[8] Erzsebet Hosp, Dialys Ctr, H-3980 Satoraljaujhely, Hungary

[9] LabPharm Kft, H-3980 Satoraljaujhely, Hungary

[10] Szent Borbala Hosp, Integrated Cent Lab, H-2800 Tatabanya, Hungary

来源：

APPLIED SCIENCES-BASEL | 2023年 / 13卷 / 11期

关键词：

chronic kidney disease; genetic polymorphism; high-resolution melting analysis; gender; FATE DETERMINATION FACTOR; MUTATION;

D O I：

10.3390/app13116633

中图分类号：

O6 [化学];

学科分类号：

0703 ;

摘要：

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.

引用

页数：8

共 26 条

[1] Defining Incident Chronic Kidney Disease in the Research Setting [J].

Bash, Lori D. ;

Coresh, Josef ;

Koettgen, Anna ;

Parekh, Rulan S. ;

Fulop, Tibor ;

Wang, Yaping ;

Astor, Brad C. .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2009, 170 (04) :414-424

[2] Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD [J].

Boeger, Carsten A. ;

Gorski, Mathias ;

Li, Man ;

Hoffmann, Michael M. ;

Huang, Chunmei ;

Yang, Qiong ;

Teumer, Alexander ;

Krane, Vera ;

O'Seaghdha, Conall M. ;

Kutalik, Zoltan ;

Wichmann, H. -Erich ;

Haak, Thomas ;

Boes, Eva ;

Coassin, Stefan ;

Coresh, Josef ;

Kollerits, Barbara ;

Haun, Margot ;

Paulweber, Bernhard ;

Koettgen, Anna ;

Li, Guo ;

Shlipak, Michael G. ;

Powe, Neil ;

Hwang, Shih-Jen ;

Dehghan, Abbas ;

Rivadeneira, Fernando ;

Uitterlinden, Andre ;

Hofman, Albert ;

Beckmann, Jacques S. ;

Kraemer, Bernhard K. ;

Witteman, Jacqueline ;

Bochud, Murielle ;

Siscovick, David ;

Rettig, Rainer ;

Kronenberg, Florian ;

Wanner, Christoph ;

Thadhani, Ravi I. ;

Heid, Iris M. ;

Fox, Caroline S. ;

Kao, W. H. .

PLOS GENETICS, 2011, 7 (09)

[3] Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency [J].

Burwinkel, B ;

Scott, JW ;

Bührer, C ;

van Landeghem, FKH ;

Cox, GF ;

Wilson, CJ ;

Hardie, DG ;

Kilimann, MW .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1034-1049

[4] DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity [J].

Cao, Aili ;

Li, Jianhua ;

Asadi, Morad ;

Basgen, John M. ;

Zhu, Bingbing ;

Yi, Zhengzi ;

Jiang, Song ;

Doke, Tomohito ;

El Shamy, Osama ;

Patel, Niralee ;

Cravedi, Paolo ;

Azeloglu, Evren U. ;

Campbell, Kirk N. ;

Menon, Madhav ;

Coca, Steve ;

Zhang, Weijia ;

Wang, Hao ;

Zen, Ke ;

Liu, Zhihong ;

Murphy, Barbara ;

He, John C. ;

D'Agati, Vivette D. ;

Susztak, Katalin ;

Kaufman, Lewis .

JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (10)

[5] Genetic loci influencing kidney function and chronic kidney disease [J].

Chambers, John C. ;

Zhang, Weihua ;

Lord, Graham M. ;

van der Harst, Pim ;

Lawlor, Debbie A. ;

Sehmi, Joban S. ;

Gale, Daniel P. ;

Wass, Mark N. ;

Ahmadi, Kourosh R. ;

Bakker, Stephan J. L. ;

Beckmann, Jacqui ;

Bilo, Henk J. G. ;

Bochud, Murielle ;

Brown, Morris J. ;

Caulfield, Mark J. ;

Connell, John M. C. ;

Cook, H. Terence ;

Cotlarciuc, Ioana ;

Smith, George Davey ;

de Silva, Ranil ;

Deng, Guohong ;

Devuyst, Olivier ;

Dikkeschei, Lambert D. ;

Dimkovic, Nada ;

Dockrell, Mark ;

Dominiczak, Anna ;

Ebrahim, Shah ;

Eggermann, Thomas ;

Farrall, Martin ;

Ferrucci, Luigi ;

Floege, Jurgen ;

Forouhi, Nita G. ;

Gansevoort, Ron T. ;

Han, Xijin ;

Hedblad, Bo ;

van der Heide, Jaap J. Homan ;

Hepkema, Bouke G. ;

Hernandez-Fuentes, Maria ;

Hypponen, Elina ;

Johnson, Toby ;

de Jong, Paul E. ;

Kleefstra, Nanne ;

Lagou, Vasiliki ;

Lapsley, Marta ;

Li, Yun ;

Loos, Ruth J. F. ;

Luan, Jian'an ;

Luttropp, Karin ;

Marechal, Celine ;

Melander, Olle .

NATURE GENETICS, 2010, 42 (05) :373-375

[6] Genetic Associations of PPARGC1A with Type 2 Diabetes: Differences among Populations with African Origins [J].

Cheema, Amanpreet K. ;

Li, Tan ;

Liuzzi, Juan P. ;

Zarini, Gustavo G. ;

Dorak, Mehmet T. ;

Huffman, Fatma G. .

JOURNAL OF DIABETES RESEARCH, 2015, 2015

[7] Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis [J].

Doke, Tomohito ;

Huang, Shizheng ;

Qiu, Chengxiang ;

Liu, Hongbo ;

Guan, Yuting ;

Hu, Hailong ;

Ma, Ziyuan ;

Wu, Junnan ;

Miao, Zhen ;

Sheng, Xin ;

Zhou, Jianfu ;

Cao, Aili ;

Li, Jianhua ;

Kaufman, Lewis ;

Hung, Adriana ;

Brown, Christopher D. ;

Pestell, Richard ;

Susztak, Katalin .

JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (10)

[8] K/DOQI clinical practice guidelines for chronic kidney disease: Evaluation, classification, and stratification - Foreword [J].

Eknoyan, G ;

Levin, NW .

AMERICAN JOURNAL OF KIDNEY DISEASES, 2002, 39 (02) :S14-S266

[9] The transcription factor Dach1 is essential for podocyte function [J].

Endlich, Nicole ;

Kliewe, Felix ;

Kindt, Frances ;

Schmidt, Katharina ;

Kotb, AhmedM. ;

Artelt, Nadine ;

Lindenmeyer, Maja T. ;

Cohen, Clemens D. ;

Doering, Franziska ;

Kuss, Andreas W. ;

Amann, Kerstin ;

Moeller, Marcus J. ;

Kabgani, Nazanin ;

Blumenthal, Antje ;

Endlich, Karlhans .

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2018, 22 (05) :2656-2669

[10] High-resolution melting: Applications in genetic disorders [J].

Er, Tze-Kiong ;

Chang, Jan-Gowth .

CLINICA CHIMICA ACTA, 2012, 414 :197-201

← 1 2 3 →