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Background <p>Calcium–oxalate (CaOx) nephrolithiasis is a common form of kidney stone disease (KSD) with potential progression to chronic kidney disease (CKD). Genetic factors, including variants in the <i>SLC13A2</i> gene encoding the NaDC-1 citrate transporter, may modulate individual susceptibility. This pilot cross-sectional study evaluated the feasibility of implementing standardized genotyping and phenotype assessment workflows in CaOx nephrolithiasis patients to explore genotype-kidney function associations.</p> Methods <p>Eighty adult patients with radiologically confirmed CaOx KSD were recruited from a tertiary care center in Kyiv, Ukraine (2024). Exclusion criteria included primary hyperoxaluria, secondary stone disease, and glomerular pathology. Genotyping for the <i>SLC13A2</i> rs11567842 variant in peripheral blood DNA was performed using polymerase chain reaction followed by restriction fragment length analysis. Clinical and laboratory data were collected, including plasma oxalate concentration and estimated glomerular filtration rate (eGFR). Statistical analyses, including chi-square tests, Mann–Whitney tests, Kruskal–Wallis tests, and exploratory logistic regression (univariate and multivariable), were performed to evaluate the association between <i>SLC13A2</i> rs11567842 genotypes and reduced kidney function (eGFR &lt; 60&#xa0;mL/min/1.73 m<sup>2</sup>).</p> Results <p>Of the cohort (62.5% male, mean age&#xa0;[SD] 54.2 [16.2]&#xa0;years), 43.7% had eGFR &lt; 60&#xa0;mL/min/1.73 m<sup>2</sup>. <i>SLC13A2</i> rs11567842 genotype frequencies were AA 45.0%, AG 43.7%, and GG 11.3%. The GG genotype predominated in the eGFR &lt; 60 group (<i>p</i> = 0.006, χ2 test). In an exploratory multivariable logistic regression analysis, the GG genotype was associated with reduced kidney function (OR = 7.8, 95% CI 1.6–16.4, <i>p</i> = 0.01), alongside age, hypertension, and diabetes.</p> Conclusions <p>This pilot study demonstrated the feasibility of conducting integrated genetic and clinical phenotyping in CaOx KSD patients in a Ukrainian setting. Preliminary findings suggest a potential association between <i>SLC13A2</i> rs11567842 and reduced kidney function, supporting the rationale for larger, longitudinal studies. Future research should incorporate urinary citrate/oxalate data and expanded genetic panels.</p>

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Association of SLC13A2 rs11567842 genotypes with kidney function in calcium–oxalate stone disease: a feasibility study in a Ukrainian cohort

  • 期刊论文

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  • 发表日期：

    2026年8月1日

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  • Natalia Stepanova,
  • Liliia Fishchuk,
  • Yaroslav Dubovyi,
  • Nataliia Gorovenko,
  • Andriy Sahalevych,
  • Taisa Dovbynchuk,
  • Ganna Tolstanova

摘要

Background

Calcium–oxalate (CaOx) nephrolithiasis is a common form of kidney stone disease (KSD) with potential progression to chronic kidney disease (CKD). Genetic factors, including variants in the SLC13A2 gene encoding the NaDC-1 citrate transporter, may modulate individual susceptibility. This pilot cross-sectional study evaluated the feasibility of implementing standardized genotyping and phenotype assessment workflows in CaOx nephrolithiasis patients to explore genotype-kidney function associations.

Methods

Eighty adult patients with radiologically confirmed CaOx KSD were recruited from a tertiary care center in Kyiv, Ukraine (2024). Exclusion criteria included primary hyperoxaluria, secondary stone disease, and glomerular pathology. Genotyping for the SLC13A2 rs11567842 variant in peripheral blood DNA was performed using polymerase chain reaction followed by restriction fragment length analysis. Clinical and laboratory data were collected, including plasma oxalate concentration and estimated glomerular filtration rate (eGFR). Statistical analyses, including chi-square tests, Mann–Whitney tests, Kruskal–Wallis tests, and exploratory logistic regression (univariate and multivariable), were performed to evaluate the association between SLC13A2 rs11567842 genotypes and reduced kidney function (eGFR < 60 mL/min/1.73 m2).

Results

Of the cohort (62.5% male, mean age [SD] 54.2 [16.2] years), 43.7% had eGFR < 60 mL/min/1.73 m2. SLC13A2 rs11567842 genotype frequencies were AA 45.0%, AG 43.7%, and GG 11.3%. The GG genotype predominated in the eGFR < 60 group (p = 0.006, χ2 test). In an exploratory multivariable logistic regression analysis, the GG genotype was associated with reduced kidney function (OR = 7.8, 95% CI 1.6–16.4, p = 0.01), alongside age, hypertension, and diabetes.

Conclusions

This pilot study demonstrated the feasibility of conducting integrated genetic and clinical phenotyping in CaOx KSD patients in a Ukrainian setting. Preliminary findings suggest a potential association between SLC13A2 rs11567842 and reduced kidney function, supporting the rationale for larger, longitudinal studies. Future research should incorporate urinary citrate/oxalate data and expanded genetic panels.