中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (6): 344-347.

• 论著 • 上一篇    下一篇

GABRP基因多态性与系统性红斑狼疮发病易感性的相关性

欧运超  宋继权  裴飒  彭玮慧   

  1. 武汉大学中南医院皮肤科，430071
  • 出版日期:2017-06-15 发布日期:2018-12-14
  • 通讯作者: 宋继权，E-mail: songjiq@126.com

Association between GABRP gene polymorphisms and systemic lupus erythematosus

OU Yunchao, SONG Jiquan, PEI Sa, PENG Weihui.   

  1. Department of Dermatology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
  • Online:2017-06-15 Published:2018-12-14
  • Contact: SONG Jiquan, E-mail: songjiq@126.com

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摘要： 目的：明确γ氨基丁酸A受体π亚基(GABRP)基因单核苷酸多态性与系统性红斑狼疮(SLE)发病易感性之间的关系。方法：PCR扩增111例SLE患者和120名正常对照者外周血目的基因片段,通过二代测序对目的基因片段进行测序检测rs929763位点和rs3805455位点的多态性。结果：GABRP rs929763TT、AT基因型频率在SLE组与对照组中分别为99.1%、0.9%和95.8%、4.2%，差异无统计学意义(P＞0.05)。GABRP rs3805455AG、AA、GG基因型频率在SLE组与对照组中分别为45.0%、9.9%、45.0%和45.8%、8.3%、45.0%，差异无统计学意义(P＞0.05)，A、G等位基因频率在SLE组与对照组中分别为32.4%、67.5%和50.0%、50.0%，差异无统计学意义(P＞0.05)。结论：GABRP 基因SNP位点rs929763和rs3805455多态性可能与SLE的发病无关。

关键词: 系统性红斑狼疮, 单核苷酸基因多态性, γ氨基丁酸A受体π亚基

Abstract: Objective: To determine the association between the polymorphisms of the GABRP gene and systemic lupus erythematosus (SLE). Methods: The aim gene fragment extracted from the peripheral blood DNA of 111 SLE patients and 120 healthy controls was amplified by PCR. The single nucleotide polymorphism (SNP) in the GABRP gene at rs929763 and rs3805455 was detected by next generation sequencing. Results: The genotype frequencies of rs929763 TT, AT and rs3805455 AG, AA and GG in the patients were 99.1%, 0.9% and 45.0%, 9.9% and 45.0%, those in controls were 95.8%, 4.2% and 45.8%, 8.3% and 45.0% respectively. The allele frequencies of A and G in the patients were 32.4% and 67.5% and those in controls were 50.0% and 50.0%. There were no significant differences of AG, AA and GG frequencies between the patients and controls (P＞0.05). Conclusion: There was no association between polymorphism of rs929763 and rs3805455 in the GABRP gene with SLE.

Key words: systemic lupus erythematosus, single nucleotide polymorphism, gamma-aminobutyric acid