Genetic Variants Involved in the Crystallization Pathway Are Associated with Calcium Nephrolithiasis in the Chinese Han Population

A genome-wide association analysis study (GWAS) in the Japanese population identified 14 significant loci associated with nephrolithiasis. Besides 4 novel loci related to metabolic traits, the 10 remaining loci were associated with kidney or electrolyte-related traits. We aimed to replicate the association of these loci with calcium nephrolithiasis in the Chinese Han population. A case–control association analysis was conducted involving 691 calcium nephrolithiasis patients and 1008 control subjects. We were able to genotype a total of 11 single-nucleotide polymorphisms (SNPs) previously identified as being correlated with nephrolithiasis in the Japanese population. SNP rs35747824 at PDILT was related to calcium nephrolithiasis in the Chinese Han population (p = 4.346 × 10(−3), OR = 1.292). Moreover, four SNPs at four loci, rs6667242 at ALPL (p = 0.02999, OR = 0.8331), rs1544935 at KCNK5 (p = 0.01341, OR = 0.7804), rs7328064 at DGKH (p = 0.007452, OR = 1.211) and rs13041834 at BCAS1 (p = 0.03897, OR = 0.8409), were suggestively associated with calcium nephrolithiasis. Our results demonstrated that the genetic variants at 1p36.12, 6p21.2, 13q14.11, 16p12.3 and 20q13.2 are associated with calcium nephrolithiasis in the Chinese Han population. Furthermore, our study highlights the importance of genetic variance associated with the crystallization pathway in Chinese patients with calcium nephrolithiasis.