Analysis of rs7526084 polymorphism in 3′ downstream of the sestrin 2 gene as an informative marker for molecular diagnosis of kidney stone disease

Kidney stone disease is one of the most common disorders of urinary tract, manifesting with high clinical and genetic heterogeneity in population. Sestrin 2 is involved in many essential processes, especially oxidative and genotoxic stress. Regarding the importance of oxidative stress pathway deregulation in systemic diseases such as kidney disorders, this study was conducted to investigate the association between rs7526084 3′ downstream polymorphism of the sestrin 2 gene and risk of kidney stone in south Iranian patients.
In this case-control study, 150 patients with kidney stone disease and 180 age- and gender-matched healthy individuals were participated from March to December 2015. Genotyping of the rs7526084 polymorphism was performed using the T-ARMS PCR method.
Frequency of the G allele was higher in controls than in cases, and a reduced risk of the disease was shown in the presence of this allele (OR: 0.66, 95%CI: 0.48-0.91, P=0.01). Also, the risk of the disease was reduced in the presence of heterozygote CG (OR: 0.49, 95%CI: 0.30-0.80, P=0.004) and homozygote GG (OR: 0.47, 95%CI: 0.23-0.96, P=0.04) genotypes. Under the dominant genetic model for the G allele (GG vs. CC), this allele significantly reduced the risk of the disease (OR: 0.49, 95%CI: 0.31- 0.78, P= 0.002).
Reduced risk of kidney stone in the presence of the G allele of the sestrin 2 gene polymorphism might provide the evidence in favor of the involvement of the oxidative stress pathway in the pathogenesis of kidney stone disease.