Relevance between hypocitraturia and VDR gene promoter methylation of the Bai nationality in Yunnan province

Acta Universitatis Medicinalis Anhui 2023 04 v.58 573-576     font:big middle small

Found programs:

Authors:Lin Xiaowei; Luo Yuhui; Li Jingling; Zhang Baiyu; Ke Kunbin; Li Hao

Keywords:vitamin D receptor;gene promoter;DNA methylation;idiopathic hypocitraturia

DOI:10.19405/j.cnki.issn1000-1492.2023.04.009

〔Abstract〕 Objective To investigate the relevance between vitamin D receptor(VDR) gene promoter methylation level and idiopathic hypocitraturia of the Bai nationality in Yunnan province. Methods Fifteen patients with idiopathic hypocitrouria of the Bai nationality in Yunnan province with double dominant expression(FF type) of single nucleotide polymorphism shot(SNP shot) rs2228570(FokⅠ) genotype were selected as the experimental group. Fifteen people of the Bai nationality in Yunnan province with normal content of urinary citric acid were the control group. First, blood samples were taken from both groups. Next, the blood samples were treated with sulfites, RNA products of each sample were obtained by PCR amplification andin vitrotranscription of T7 DNA polymerase. Then the corresponding RNA fragments were digested by base-specific enzymes. Finally the degree of methylation at each test site was obtained through the EpiTYPER procedure. Results In the statistical results of DNA methylation level, the methylation level ofVDRⅠ fragment experimental group was 4.136%(1.655%, 5.152%) which was higher than 1.261%(0.827%, 1.930%) in the control group, and the difference was statistically significant(P<0.001). Among the 33 CpG sites onVDRⅠ fragment, there were significant differences in DNA methylation levels of CPG-5(F=8.831,P=0.008) and CpG-8(F=16.155,P=0.001) between the experimental group and the control group. Conclusion The increased methylation level ofVDRgene promoter is related with idiopathic hypocitric of the Bai nationality of Yunnan province. And compared with the normal Bai nationality people, the DNA methylation level ofVDRgene promoter significantly increased in the Bai nationality patients with FF type ofVDRgene SNP shotFokⅠ.