Klotho gene polymorphism in renal stone formers from Northwestern India
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ORIGINAL PAPER
Klotho gene polymorphism in renal stone formers from Northwestern India P. Lanka1 · S. K. Devana1 · S. K. Singh1 · D. Sapehia2 · J. Kaur2 Received: 10 April 2020 / Accepted: 24 October 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Klotho gene is an important gene involved in calcium homeostasis, and polymorphisms of this gene may render the individual prone to renal stone formation. We evaluated G395A single nucleotide polymorphisms (SNPs) of Klotho gene at rs1207568 in renal stone patients of North India. This was a prospective study involving 150 patients of renal stone disease (aged 15–60 years) and 100 age- and sex-matched controls. The DNA was isolated and subjected to polymerase chain reaction (PCR) for identifying the G395A Klotho SNPs at rs1207568. Confronting two pair primers were used, and gel electrophoresis showing two bands at 175,252 bp was considered as GG genotype, three bands at 121,175 and 252 bp as GA and two bands at 121 and 252 bp as AA genotype. The association between genotype and cases was evaluated by using Chi-square test and logistic regression analysis. Cases and controls were well matched for age (40.65 vs 42.06, p = 0.063) and sex (p = 0.420). Significantly high proportion of patients with renal stones had GG genotype as compared to controls (odds ratio (OR) 2.37(1.39,4.03), p = 0.001). None of the participants (cases and controls) had homozygous recessive AA genotype. The risk of stone formation was significantly higher in the population carrying G allele {OR 1.94 (1.225–3.073), p 0.004}. Mean serum calcium was higher in stone formers with GG genotype as compared to those with GA genotype (9.16 mg/dl vs 8.91 mg/dl; p = 0.06). GG genotype of G396A Klotho gene SNPs is associated with renal stone formation. The G allele carrier is twice at risk of renal stone formation. The absence of AA genotype in north-western Indian population remains a curiosity. Keywords Renal stones · Renal calculi · Gene polymorphism · Aetiology · Klotho · Urolithiasis
Introduction Urolithiasis, one of the oldest maladies suffered by the human race, is responsible for significant cost burden on both the patient and health care services. Its prevalence * S. K. Devana [email protected] P. Lanka [email protected] S. K. Singh [email protected] D. Sapehia [email protected] J. Kaur [email protected] 1
Department of Urology, PGIMER, Chandigarh, India
Department of Biochemistry, PGIMER, Chandigarh, India
2
varies in different geographical areas from 3.5 to 18.5% [1]. Supersaturation of urine with inorganic ions like calcium and phosphorus is a prerequisite for stone formation with calcium stones being the most common type. The factors responsible for calcium metabolism may directly or indirectly contribute to urolithiasis and are therefore a key area of research. Genes responsible for calcium homeostasis can result in hypercalciuria and hence formation of calcigerous urinary stones by virtue of mutation or polymorphisms. Various genes
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