AUTHOR=Wang Lujia , Zhou Zijian , Yang Yuanyuan , Gao Peng , Lin Xiaoling , Wu Zhong 

TITLE=A Genetic Polymorphism in the WDR72 Gene is Associated With Calcium Nephrolithiasis in the Chinese Han Population

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.897051

DOI=10.3389/fgene.2022.897051

ISSN=1664-8021

ABSTRACT=<p>A previous genome-wide association study (GWAS) reported several novel loci for nephrolithiasis in British and Japanese population, some of which were predicted to influence CaSR signaling. In this study, we aimed to evaluate the association of these loci with calcium nephrolithiasis in Chinese Han population. We performed a case-control association analysis involving 691 patients with calcium nephrolithiasis and 1008 control subjects. We were able to genotype a total of 17 single-nucleotide polymorphisms (SNPs), which were previously reported to be significantly associated with nephrolithiasis in GWAS. rs578595 at <italic>WDR</italic>72 was significantly associated with calcium nephrolithiasis in Chinese Han population (<italic>p</italic> &lt; 0.001, OR = 0.617). Moreover, rs12654812 at <italic>SLC34A1</italic> (<italic>p</italic> = 0.0427, OR = 1.170), rs12539707 at <italic>HIBADH</italic> (<italic>p</italic> = 0.0179, OR = 0.734), rs1037271 at <italic>DGKH</italic> (<italic>p</italic> = 0.0096, OR = 0.828) and rs12626330 at <italic>CLDN14</italic> (<italic>p</italic> = 0.0080, OR = 1.213) indicated suggestive associations with calcium nephrolithiasis. Our results elucidated the significance of genetic variation at <italic>WDR</italic>72, <italic>DGKH</italic>, <italic>CLDN14</italic>, <italic>SLC34A1</italic>, and <italic>HIBADH</italic> in Chinese patients with nephrolithiasis. Since polymorphisms of <italic>WDR72</italic>, <italic>DGKH</italic>, and <italic>CLDN14</italic> are predicted to influence in CaSR signaling, our results emphasized the role of abnormal calcium homeostasis in calcium nephrolithiasis.</p>