Skip to main content

Genetics

The Genetics section considers both interventional and non-interventional clinical research studies, including controlled trials, case control studies, and basic experimental research. This section does not consider large epidemiological studies, or case reports. Systematic reviews and meta-analyses should be directed to the Epidemiology and Health Outcomes section, and case reports should be directed to our dedicated Case Reports section. 

Page 1 of 2

  1. Hypertensive nephropathy (HTN) is a kind of renal injury caused by chronic hypertension, which seriously affect people’s life. The purpose of this study was to identify the potential biomarkers of HTN and unde...

    Authors: Zhen Wang, Zhongjie Liu, Yingxia Yang and Lei Kang

    Citation: BMC Nephrology 2020 21:476

    Content type: Research article

    Published on:

  2. PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early c...

    Authors: Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst and John A. Sayer

    Citation: BMC Nephrology 2020 21:435

    Content type: Research article

    Published on:

  3. Bladder cancer is the most common malignant tumor of the urinary system. One of the biological characteristics of NMIBC is the high recurrence rate after surgery. The implementation of this project aimed to in...

    Authors: Zhenlong Wang, Hui Tang, Yuquan Xue, Li Xue, Hongliang Li and Tie Chong

    Citation: BMC Nephrology 2020 21:426

    Content type: Research article

    Published on:

  4. Acute kidney injury (AKI) is defined as a sudden event of kidney failure or kidney damage within a short period. Ischemia-reperfusion injury (IRI) is a critical factor associated with severe AKI and end-stage ...

    Authors: Meeyoung Park, Chae Hwa Kwon, Hong Koo Ha, Miyeun Han and Sang Heon Song

    Citation: BMC Nephrology 2020 21(Suppl 1):398

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  5. Autosomal dominant polycystic kidney disease (ADPKD), the predominant type of inherited kidney disorder, occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging. However, m...

    Authors: Fatemeh Khadangi, Adam Torkamanzehi and Mohammad Amin Kerachian

    Citation: BMC Nephrology 2020 21:408

    Content type: Research article

    Published on:

  6. There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leadi...

    Authors: Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali and John A. Sayer

    Citation: BMC Nephrology 2020 21:347

    Content type: Research article

    Published on:

  7. We previously identified two acute kidney injury (AKI) sub-phenotypes (AKI-SP1 and AKI-SP2) with different risk of poor clinical outcomes and response to vasopressor therapy. Plasma biomarkers of endothelial d...

    Authors: Pavan K. Bhatraju, Max Cohen, Ryan J. Nagao, Eric D. Morrell, Susanna Kosamo, Xin-Ya Chai, Robin Nance, Victoria Dmyterko, Joseph Delaney, Jason D. Christie, Kathleen D. Liu, Carmen Mikacenic, Sina A. Gharib, W. Conrad Liles, Ying Zheng, David C. Christiani…

    Citation: BMC Nephrology 2020 21:284

    Content type: Research article

    Published on:

  8. The currently available data with respect to the association between vitamin D receptor (VDR) gene polymorphism and risk to urolithiasis are inconclusive and inconsistent. Hence, an exhaustive meta-analysis can s...

    Authors: Danyal Imani, Bahman Razi, Arezou Khosrojerdi, Kaivan Lorian, Morteza Motallebnezhad, Ramazan Rezaei and Saeed Aslani

    Citation: BMC Nephrology 2020 21:263

    Content type: Research article

    Published on:

  9. Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylcera...

    Authors: Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Stark, Maria Fuller and Wendy E. Hoy

    Citation: BMC Nephrology 2020 21:58

    Content type: Study protocol

    Published on:

  10. There is scarce data on CASR associations with dyslipidemia. We investigated in hemodialysis (HD) patients whether CASR single nucleotide polymorphisms (SNPs) rs7652589 and rs1801725 have associations with dyslip...

    Authors: Alicja E. Grzegorzewska, Bartosz A. Frycz, Monika Świderska, Leszek Niepolski, Adrianna Mostowska and Paweł P. Jagodziński

    Citation: BMC Nephrology 2019 20:436

    Content type: Research article

    Published on:

  11. The challenges in diagnosis of rare renal conditions can negatively impact patient prognosis, quality of life and result in significant healthcare costs. Differential methylation is emerging as an important bi...

    Authors: Katie Kerr, Helen McAneney, Cheryl Flanagan, Alexander P. Maxwell and Amy Jayne McKnight

    Citation: BMC Nephrology 2019 20:320

    Content type: Research article

    Published on:

  12. Approximately 30% of Persian cats have a c.10063C > A variant in polycystin 1 (PKD1) homolog causing autosomal dominant polycystic kidney disease (ADPKD). The variant is lethal in utero when in the homozygous sta...

    Authors: Yoshihiko Yu, Kate L. Shumway, Jodi S. Matheson, Marie E. Edwards, Timothy L. Kline and Leslie A. Lyons

    Citation: BMC Nephrology 2019 20:259

    Content type: Research article

    Published on:

  13. Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most...

    Authors: Lauren E. Woodard, Richard C. Welch, Ruth Ann Veach, Thomas M. Beckermann, Feng Sha, Edward J. Weinman, Talat Alp Ikizler, Jay A. Tischfield, Amrik Sahota and Matthew H. Wilson

    Citation: BMC Nephrology 2019 20:227

    Content type: Research article

    Published on:

  14. Infection is the second most common cause of mortality for patients with end-stage renal disease (ESRD), accompanying with immune dysfunction. Endothelin (EDN) is known to be related to inflammation; however, it ...

    Authors: Chih-Chin Kao, Shih-Ying Cheng, Yu-Jia Wang, Shu-Chen Chien, Yu-Wen Hsu, Mei-Yi Wu, Hsing-Fang Lu, Sean Nam, Tao Sun, Mai-Szu Wu and Wei-Chiao Chang

    Citation: BMC Nephrology 2019 20:203

    Content type: Research article

    Published on:

  15. Interleukin 17 is a proinflammatory cytokine involved in immune response after allograft transplantation. IL-17 family of proinflammatory cytokines includes IL-17A and IL-17F. Previous studies have demonstrated t...

    Authors: Leszek Domanski, Karolina Kłoda, Maciej Patrzyk, Magda Wisniewska, Krzysztof Safranow, Jerzy Sienko, Tadeusz Sulikowski, Marzena Staniszewska and Andrzej Pawlik

    Citation: BMC Nephrology 2019 20:124

    Content type: Research article

    Published on:

  16. Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutat...

    Authors: S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri and A. M. Pinto

    Citation: BMC Nephrology 2019 20:70

    Content type: Research article

    Published on:

  17. Congenital nephrotic syndrome (CNS) is characterised by increased proteinuria, hypoproteinemia, and edema beginning in the first 3 months of life. Recently, molecular genetic studies have identified several ge...

    Authors: Guo-min Li, Qi Cao, Qian Shen, Li Sun, Yi-hui Zhai, Hai-mei Liu, Yu An and Hong Xu

    Citation: BMC Nephrology 2018 19:382

    Content type: Research article

    Published on:

  18. Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by mutations in the UMOD gene (ADTKD-UMOD) is considered rare and often remains unrecognised. We aimed to establish the prevalence of genetic ki...

    Authors: Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis and G. Venkat-Raman

    Citation: BMC Nephrology 2018 19:301

    Content type: Research article

    Published on:

  19. Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rB...

    Authors: Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth and Thomas Eggermann

    Citation: BMC Nephrology 2018 19:278

    Content type: Research article

    Published on:

  20. Substrate reduction therapy with analogs reduces the accumulation of substrates by inhibiting the metabolic pathways involved in their biosynthesis, providing new treatment options for patients with primary hy...

    Authors: Huan Yang, Musa Male, Yang Li, Ning Wang, Chenming Zhao, Shan Jin, Juncheng Hu, Zhiqiang Chen, Zhangqun Ye and Hua Xu

    Citation: BMC Nephrology 2018 19:167

    Content type: Research article

    Published on:

  21. About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the ...

    Authors: Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides and Constantinos Deltas

    Citation: BMC Nephrology 2018 19:114

    Content type: Research article

    Published on:

  22. Genome wide association studies of patients with European descent have identified common variants associated with risk of reduced estimated glomerular filtration rate (eGFR). A panel of eight variants were sel...

    Authors: Cyril Cyrus, Samir Al-Mueilo, Chittibabu Vatte, Shahanas Chathoth, Yun R. Li, Hatem Qutub, Rudaynah Al Ali, Fahad Al-Muhanna, Matthew B. Lanktree, Khaled Riyad Alkharsah, Abdullah Al-Rubaish, Brian Kim-Mozeleski, Brendan Keating and Amein Al Ali

    Citation: BMC Nephrology 2018 19:88

    Content type: Research article

    Published on:

  23. It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented...

    Authors: Ying Bai, Yibing Chen and Xiangdong Kong

    Citation: BMC Nephrology 2018 19:26

    Content type: Research article

    Published on:

  24. Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis wi...

    Authors: Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo and Kazumoto Iijima

    Citation: BMC Nephrology 2017 18:353

    Content type: Research article

    Published on:

  25. Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated...

    Authors: C. Cervera-Acedo, A. Coloma, E. Huarte-Loza, M. Sierra-Carpio and E. Domínguez-Garrido

    Citation: BMC Nephrology 2017 18:325

    Content type: Research article

    Published on:

  26. Cardiovascular (CV) complications are the main cause of death in end-stage renal disease (ESRD) patients. The high CV risks are attributable to the additive effects of multiple factors. Endothelin (EDN) is a p...

    Authors: Chih-Chin Kao, Shih-Ying Cheng, Mei-Yi Wu, Shu-Chen Chien, Hsing-Fang Lu, Yu-Wen Hsu, Yan-Feng Zhang, Mai-Szu Wu and Wei-Chiao Chang

    Citation: BMC Nephrology 2017 18:291

    Content type: Research article

    Published on:

  27. Cisplatin (CP) is commonly used in the treatment of different types of cancer but nephrotoxicity has been a major limiting factor. Therefore, the present study aimed to study the possible protective effect of ...

    Authors: Ali R. Alhoshani, Mohamed M. Hafez, Sufia Husain, Abdel Malek Al-sheikh, Moureq R. Alotaibi, Salim S. Al Rejaie, Musaad A. Alshammari, Mashal M. Almutairi and Othman A. Al-Shabanah

    Citation: BMC Nephrology 2017 18:194

    Content type: Research article

    Published on:

  28. Septic acute kidney injury affects 40–50% of all septic patients. Molecular differences between septic patients with and without acute kidney injury (AKI) are only poorly understood. Here, we investigated gene...

    Authors: Martin Matejovic, Lenka Valesova, Jan Benes, Roman Sykora, Roman Hrstka and Jiri Chvojka

    Citation: BMC Nephrology 2017 18:183

    Content type: Research article

    Published on:

  29. Circulating pro-inflammatory cytokines were associated with increased relative mortality risk, while immune parameters reflecting improved T-cell function were predictors of survival in hemodialysis (HD) patie...

    Authors: Alicja E. Grzegorzewska, Monika K. Świderska, Adrianna Mostowska, Wojciech Warchoł and Paweł P. Jagodziński

    Citation: BMC Nephrology 2017 18:165

    Content type: Research article

    Published on:

  30. Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, a...

    Authors: Abdulrahman Obaid, Marwan Nashabat, Khalid Al Fakeeh, Abdullah T. Al Qahtani and Majid Alfadhel

    Citation: BMC Nephrology 2017 18:50

    Content type: Research article

    Published on:

  31. In Sri Lanka, there exists chronic kidney disease of both known (CKD) and unknown etiologies (CKDu). Identification of novel biomarkers that are customized to the specific causative factors would lead to early...

    Authors: Saravanabavan Sayanthooran, Dhammika N. Magana-Arachchi, Lishanthe Gunerathne and Tilak Abeysekera

    Citation: BMC Nephrology 2017 18:31

    Content type: Research article

    Published on:

  32. Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partl...

    Authors: David L. Duffy, Stephen P. McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J. Smith, Xing L. Wang, David E. Wilcken, Natalia L. Duarte, John Mathews and Wendy E. Hoy

    Citation: BMC Nephrology 2016 17:183

    Content type: Research article

    Published on:

  33. Transcription factor Nrf2 protects from experimental acute kidney injury (AKI) and is promising to limit progression in human chronic kidney disease (CKD) by upregulating multiple antioxidant genes. We recentl...

    Authors: Sanjeev Noel, Lois J. Arend, Samatha Bandapalle, Sekhar P. Reddy and Hamid Rabb

    Citation: BMC Nephrology 2016 17:110

    Content type: Research article

    Published on:

  34. Disruption of ROBO2 in humans causes vesicoureteral reflux (VUR)/congenital anomalies of the kidney and urinary tract (CAKUT). PiggyBac (PB) is a DNA transposon, and its insertion often reduces—but does not elimi...

    Authors: Jialu Liu, Li Sun, Qian Shen, Xiaohui Wu and Hong Xu

    Citation: BMC Nephrology 2016 17:98

    Content type: Research article

    Published on:

  35. Increased urinary albumin excretion rate is the earliest clinical manifestation of diabetic nephropathy. The development of microalbuminuria in patients with type 1 diabetes mellitus (T1D) usually begins 5 to ...

    Authors: Dovilė Ražanskaitė-Virbickienė, Evalda Danytė and Rimantas Žalinkevičius

    Citation: BMC Nephrology 2016 17:38

    Content type: Research article

    Published on:

  36. Mutations in several genes expressed in podocytes, including Cd2ap, have been associated with focal segmental glomerulosclerosis in humans. Mutant mouse models provide an opportunity to better understand the mole...

    Authors: Eric W. Brunskill and S. Steven Potter

    Citation: BMC Nephrology 2015 16:71

    Content type: Research article

    Published on:

  37. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows s...

    Authors: Hamad Ali, Naser Hussain, Medhat Naim, Mohamed Zayed, Fahd Al-Mulla, Elijah O Kehinde, Lauren M Seaburg, Jamie L Sundsbak and Peter C Harris

    Citation: BMC Nephrology 2015 16:26

    Content type: Research article

    Published on:

  38. Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. Diagnosis of these conditions can be hindere...

    Authors: Fujun Lin, Fan Bian, Jun Zou, Xiangru Wu, Jianping Shan, Wei Lu, Yao Yao, Gengru Jiang and Daniel Philip Gale

    Citation: BMC Nephrology 2014 15:175

    Content type: Research article

    Published on:

  39. Genetic factors are suspected in the pathogenesis of IgA nephropathy, as well as in the course of IgA nephropathy progression towards end stage renal failure. UMOD polymorphism rs12917707 is known to associate wi...

    Authors: Miriana Dinic, Lidia Ghisdal, Judith Racapé, Lise Thibaudin, Philippe Gatault, Marie Essig, Yann Le Meur, Christian Noël, Guy Touchard, Pierre Merville, Zineb Ajarchouh, Christophe Mariat, Marc Abramowicz, Daniel Abramowicz and Eric Alamartine

    Citation: BMC Nephrology 2014 15:138

    Content type: Research article

    Published on:

  40. Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8...

    Authors: Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella and Elena Costa

    Citation: BMC Nephrology 2014 15:102

    Content type: Case report

    Published on:

  41. Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to h...

    Authors: Guo-min Li, Hong Xu, Qian Shen, Yi-nv Gong, Xiao-yan Fang, Li Sun, Hai-mei Liu and Yu An

    Citation: BMC Nephrology 2014 15:92

    Content type: Research article

    Published on:

  42. Familial juvenile hyperuricaemic nephropathy is a rare inherited nephropathy with genetic heterogeneity. Categorised by genetic defect, mutations in uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1β...

    Authors: Lucy A Plumb, Matko Marlais, Agnieszka Bierzynska, Howard Martin, Kim Brugger, Stephen Abbs and Moin A Saleem

    Citation: BMC Nephrology 2014 15:76

    Content type: Case report

    Published on:

  43. Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused...

    Authors: Luisa Santangelo, Maddalena Gigante, Giuseppe Stefano Netti, Sterpeta Diella, Flora Puteo, Vincenza Carbone, Giuseppe Grandaliano, Mario Giordano and Loreto Gesualdo

    Citation: BMC Nephrology 2014 15:41

    Content type: Case report

    Published on:

  44. The presence of glutathione transferase (GST) M1 null genotype (GSTM1-null) in end-stage renal disease (ESRD) patients is associated with lower overall survival rate in comparison to those with GSTM1-active varia...

    Authors: Sonja Suvakov, Tatjana Damjanovic, Tatjana Pekmezovic, Jovana Jakovljevic, Ana Savic-Radojevic, Marija Pljesa-Ercegovac, Slavica Radovanovic, Dragan V Simic, Steva Pljesa, Milos Zarkovic, Jasmina Mimic-Oka, Nada Dimkovic and Tatjana Simic

    Citation: BMC Nephrology 2014 15:12

    Content type: Research article

    Published on:

  45. Traditionally, for DNA analyses, DNA is recovered from buffy coats. Since DNA in urine has been reported to deteriorate quickly, this option is often not considered. To complete our DNA database in patients wi...

    Authors: Marc Hilhorst, Ruud Theunissen, Henk van Rie, Pieter van Paassen and Jan Willem Cohen Tervaert

    Citation: BMC Nephrology 2013 14:238

    Content type: Technical advance

    Published on:

  46. Accumulated to-date microarray data on ischemia reperfusion injury (IRI) of kidney represent a powerful source for identifying new targets and mechanisms of kidney IRI. In this study, we conducted a meta-analy...

    Authors: Dmitry N Grigoryev, Dilyara I Cheranova, Daniel P Heruth, Peixin Huang, Li Q Zhang, Hamid Rabb and Shui Q Ye

    Citation: BMC Nephrology 2013 14:231

    Content type: Technical advance

    Published on:

COVID-19 Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time. Thank you.

2018 Journal Metrics