Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population

Objective: Kidney stone formation is a complex disorder that likely results from both dietary and genetic factors. A recent study identified an association between the risk of kidney stones and polymorphisms in the ALPL gene, but the study needs replication. To confirm whether the ALPL gene is universally associated with kidney stones, the present study further investigated polymorphisms of the ALPL gene in a Han Chinese population. Methods: A total of 331 kidney stone patients and 553 unrelated healthy controls were included in the present case-control study. We conducted genetic analyses to detect the association of 19 tagging single nucleotide polymorphisms (SNPs) with kidney stones. In addition, we examined the relations between targeted SNP(s) and several clinical characteristics of kidney stones in the patients. Results: Genetic association analyses using logistic regression models identified one ALPL SNP, rs1256328, which was significantly associated with the kidney stone disease status (OR=1.52, p=0.0009). No significant results were obtained through association tests between genotypes of this SNP and the various clinical characteristics of kidney stone patients. Conclusion: The ALPL SNP, rs1256328, was identified as being significantly associated with kidney stone disease status in a large Chinese Han cohort. Our study replicated a previous genome-wide association study that was conducted in an Icelandic population.