Kidney stone risk varies a lot with both genetics and race – meta-analysis May 2021

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis

PLoS One. 2021 May 6;16(5):e0251235. doi: 10.1371/journal.pone.0251235
Widi Atmoko 1, Putu Angga Risky Raharja 1, Ponco Birowo 1, Agus Rizal Ardy Hariandy Hamid 1, Akmal Taher 1, Nur Rasyid 1

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Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4.

A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The

  • ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01]
    • albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01).
  • The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01).
  • Among Asians, the
    • VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the
    • VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01).
    • The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model.
  • Urokinase-ApaLI (recessive model),
  • VDR-ApaI (dominant model), and
  • VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk

whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.

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