Protein Kinase 2 (HIPK2) Polymorphisms on rs2058265, rs6464214, and rs7456421

Saglik Bilimleri Universitesi

Status: Completed

Conditions: Kidney Stone

Treatments: Genetic: Genetic analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT04804436

Geneticstone

Details and patient eligibility

About

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.

Full 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.

Enrollment: 196 patients

Sex: All

Ages: 38 to 68 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Screening

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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196 participants in 2 patient groups

Patients with nephrolithiasis

Experimental group

Description:

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. Thermal cycling conditions were as follows: initial denaturation at 94℃ for 3 min, 40 cycles of 94℃ for 15 s, and 60°C for 1 min. The Rotor-Gene Q Series Software Version Q 2.3.1 (Rotor-Gene Q Series, Ziagen) was used for allelic discrimination.

Treatment:

Genetic: Genetic analysis

Healthy control group

Experimental group

Description:

he 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. Thermal cycling conditions were as follows: initial denaturation at 94℃ for 3 min, 40 cycles of 94℃ for 15 s, and 60°C for 1 min. The Rotor-Gene Q Series Software Version Q 2.3.1 (Rotor-Gene Q Series, Ziagen) was used for allelic discrimination.

Treatment:

Genetic: Genetic analysis