Clinical trial NCT04804436: Protein Kinase 2 (HIPK2) Polymorphisms on rs2058265, rs6464214, and rs7456421
Official title: Do Homeodomain Interacting Protein Kinase 2 (HIPK2) Polymorphisms rs2058265, rs6464214, and rs7456421 Associate With Nephrolithiasis in Turkish Population?
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Kidney Stone
Keywords: KSD HIPK2 gene Polymorphism
Lead sponsor: Saglik Bilimleri Universitesi
Sponsor class: OTHER
First posted: 2021-03-18
Enrollment: 196
Sex: ALL
Minimum age (years): 38
Maximum age (years): 68
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: SCREENING

Brief summary: In the present study investigators aimed to investigate whether homeodomain interacting protein kinase 2 (HIPK2) polymorphism is associated with renal stone formation in Turkish population or not.

One hundred and twenty nine participants with calcium nephrolithiasis and 67 sex and age-matched healthy controls were enrolled in this study. For analysis of HIPK2 polymorphism, the real-time PCR amplification was performed in a final volume of 20μL reaction mixture, including 10 ng of genomic DNA, 5 µL of TaqMan® Universal PCR Master Mix, and 0.5 µL of 40X TaqMan® assay. The Rotor-Gene Q Series Software Version Q 2.3.1 (Rotor-Gene Q Series, Ziagen) was used for allelic discrimination. Chi square test was utilized to compare the differences of the genotype and allele frequencies between patients and controls.

Detailed description: Kidney stone incidence depends on geographical, climatic, ethnic, dietary and genetic factors. Thus the prevalence rates for urinary stones change from 1% to 20%. 1,2 Genetic polymorphism also causes nephrolithiasis. The most known polymorphic genes are the calcium-sensing receptor (CASR), vitamin D receptor (VDR), and matrix gla protein (MGP), plasminogen activator, urokinase (PLAU). 3,4 Furthermore, the concordance rate of the stone disease in monozygotic twins is substantially higher than in dizygotic ones (32.4% vs. 17.3%) demonstrating that genetic factors play a vital role in the formation of nephrolithiasis. 5 Homeodomain interacting protein kinase 2 (HIPK2) has been shown to be a new androgen receptor regulator. HIPK2 and androgen were demonstrated to mediate kidney tubular epithelial cell injury and apoptosis.

Informations on HIPK2 polymorphism about renal stone formation are newfound and inconclusive. Therefore, in this study, authors aimed to investigate whether HIPK2 polymorphism is associated with renal stone formation in Turkish population or not.

Eligibility criteria: Inclusion Criteria:

Patients with nephrolithiasis

Exclusion Criteria:

* Patients had a history of chronic urinary tract infection
* renal failure
* gastrointestinal diseases
* increased levels of vitamin D
* sarcoidosis
* primary hyperoxaluria
* polycystic kidney disease, gout, renal tubular acidosis, primary and secondary hyperparathyroidism.

Primary outcomes:
measure: Single nucleotide polymorphism
timeFrame: One year
Secondary outcomes:
Other outcomes:
Locations:
city: Ankara
country: Turkey
facility: Omer Gokhan Doluoglu
Study officials:
affiliation: University of Medical Sciences, Ministry of Health, Ankara City Hospital, Department of Urology, Ankara, Turkey
name: Cavit Ceylan, Professor
role: STUDY_DIRECTOR
References: