HIPK2 polymorphisms rs2058265, rs6464214, and rs7456421 were associated with kidney stone disease in Chinese males not females

• Published in: Gene 2018-05, Vol.653, p.51-56
• Main Authors: Lin, Haisong, Zhu, Xiujuan, Long, Jun, Chen, Yang, Xie, Yuanliang, Liao, Ming, Chen, Jianxin, Tian, Jiarong, Huang, Shengzhu, Tang, Ruiqiang, Xian, Xiaoying, Wei, Suchun, Wang, Qiuyan, Mo, Zengnan
• Format: Article
• Language: English
• Subjects: HIPK2 gene; KSD; Polymorphism
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2018.02.020

Recent studies have shown that genetic factors are involved in the development of kidney stone disease (KSD). A case–control association analysis was performed to investigate the association between homeodomain-interacting protein kinase 2 (HIPK2; OMIM *606868) polymorphisms and KSD. A total of 890 KSD patients and 920 healthy subjects were analyzed. Polymorphisms were genotyped using SNPscanTM high-throughput SNP classification technology. The genotypic and allelic frequencies in KSD patients and healthy individuals were analyzed using a Chi-square test. The genotype and allele distributions of the three polymorphisms (rs2058265, rs6464214, and rs7456421 in HIPK2) displayed strong associations with KSD in males (rs2058265: odds ratio [OR] 2.480,95%confidence interval [CI] 1.205–5.106, p = 0.014; rs6464214: OR 2.466, 95%CI 1.198–5.078, p = 0.014; rs7456421: OR 2.846, 95%CI 1.362–5.947, p = 0.005; perallele: r2058265T, OR 1.357, 95%CI 1.073–1.715, p = 0.011; rs6464214G, OR 1.340, 95%CI 1.060–1.693, p = 0.014; rs7456421C, OR 1.356, 95%CI 1.073–1.713, p = 0.011). Patients carrying the T allele of rs2058265, the G allele of rs6464214, or the C allele of rs7456421 showed higher systolic blood pressure, creatinine, and uric acid levels compared with wild-genotype individuals after adjusting for age, gender, and body mass index (p