The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population

Urolithiasis. 2022 Dec 26;51(1):23. doi: 10.1007/s00240-022-01396-1.

Abstract

Urinary system stones have a complex pathophysiology affected by environmental and genetic factors. To confirm whether ALPL gene polymorphisms are an effective universal risk factor for the development of urolithiasis, we aimed to investigate ALPL gene polymorphism in Turkish population. Our study was carried out with 187 patients with urolithiasis and 92 healthy volunteers (control group) who were not diagnosed with urolithiasis either in themselves or in their families, applied to Emergency Medicine Clinic of Health Sciences University Haydarpasa Numune Training and Research Hospital in Istanbul, Turkey between November 2021 and February 2022, prospectively. In order to evaluate the relationship between ALP gene (rs1256328) polymorphism and urolithiasis, blood samples were analyzed by quantitative Real Time PCR (qPCR) method. Male gender (OR:3.785; 95% CI:2.118-6.763; p<0.001), increased BUN level (OR:1.082; 95% CI:1.013-1.156; p=0.019), increased NLR level (OR:1.149; 95 %CI:1.033-1.277; p=0.011) and heterozygous genotype (OR:2.353; 95% CI:1.31-4.225; p=0.004) were determined as independent risk factors for the development of urolithiasis. The presence of heterozygous (CT) genotype in the ALPL rs1256328 gene region in the Turkish population is associated with an increased risk of urolithiasis. This suggests that ALPL rs1256328 gene polymorphism can be used as a genetic marker in the Turkish population.

Keywords: ALPL; Gene polymorphism; Nephrolithiasis; PCR; Real time polymerase chain reaction; Urolithiasis; qPCR; rs1256328.

MeSH terms

  • Alkaline Phosphatase / genetics
  • Case-Control Studies
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Turkey / epidemiology
  • Urinary Calculi*
  • Urolithiasis* / epidemiology
  • Urolithiasis* / genetics

Substances

  • ALPL protein, human
  • Alkaline Phosphatase