Chinese Journal of Dermatology ›› 2021, Vol. 54 ›› Issue (7): 597-604.doi: 10.35541/cjd.20200576

• Original Articles • Previous Articles     Next Articles

Analysis of relationship between psoriasis vulgaris and vitamin D receptor gene in a Han population in Hainan Province based on targeted capture sequencing

Liu Junlin1, Wang Wei2, Cao Zhirui1, Liu Kun1, Wan Duoyan1, Wu Zhiming3, Luo Yang1, Xiao Chuanliu1, Liu Lu4, Yin Mei5   

  1. 1Department of Dermatology and Venereology, The Second Affiliated Hospital of Hainan Medical University, Haikou 570311, China; 2Department of Dermatology and Venereology, Haikou People′s Hospital, Haikou 570208, China; 3Department of Clinical Laboratory, The Second Affiliated Hospital of Hainan Medical University, Haikou 570311, China; 4Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei 230022, China; 5Health Examination Center, The Second Affiliated Hospital of Hainan Medical University, Haikou 570311, China
  • Received:2020-06-10 Revised:2021-01-30 Online:2021-07-15 Published:2021-07-02
  • Contact: Liu Lu; Yin Mei;
  • Supported by:
    National Natural Science Foundation of China(81860551); Key Research and Development Plan of Hainan Province(ZDYF2018156); Hainan Medical and Health Research Program(20A200472)

Abstract: 【Abstract】 Objective To investigate the relationship between vitamin D receptor (VDR) gene polymorphisms and psoriasis vulgaris. Methods From March 2018 to February 2020, a total of 101 patients with psoriasis vulgaris were collected from Department of Dermatology and Venereology, the Second Affiliated Hospital of Hainan Medical University, and 79 healthy controls from the health examination center in this hospital. All the subjects were of Han nationality from Hainan province. Targeted capture sequencing was performed to sequence the full length of the VDR gene and its 2-kb upstream and downstream regions. Single-nucleotide polymorphism (SNP)- and haplotype-based association analyses were performed for SNPs with minor allele frequency greater than 1%. Bioinformatics methods were used to predict the impact of risk SNPs on gene functions. Results The SNP-based association analysis showed that 40 SNPs, including 29 in the intron region, 1 in the exon region and 10 in the intergenic region, conferred susceptibility to psoriasis vulgaris, with the odds ratio ranging from 0.148 (95% CI: 0.016 - 1.294) to 2.779 (95% CI: 1.260 - 6.130), and P value ranging from < 0.001 to 0.976. Bioinformatics analysis indicated that rs2228570 in exon 2 could cause the substitution of methionine by threonine, leading to changes in gene functions. The haplotype-based association analysis showed that 10 haplotypes were protective haplotypes for psoriasis vulgaris, and their frequencies were 5.150% - 45.570% in the healthy control group and 1.110% - 33.170% in the psoriasis group, with the odds ratio ranging from 0.198 (95% CI: 0.040 - 0.985) to 0.630 (95%CI: 0.419 - 0.947), and the P value ranging from 0.002 to 0.048. Conclusion Among the Han population in Hainan Province, 40 risk SNPs for psoriasis vulgaris were identified in intron, exon and intergenic regions of the VDR gene, and 10 protective haplotypes were identified as well.

Key words: Psoriasis, Receptors, calcitriol, Polymorphism, single nucleotide, Haplotypes, Case-control studies, Targeted capture sequencing