岩藻糖基转移酶2基因多态性与脊髓亚急性联合变性的相关性研究-现代医学

岩藻糖基转移酶2基因多态性与脊髓亚急性联合变性的相关性研究

单位：延安大学咸阳医院神经内科, 陕西咸阳 712000

分类号：R744.6

出版年·卷·期（页码）：2019·47·第八期（896-899）

摘要：

目的：探讨陕西地区汉族人群中，岩藻糖基转移酶2（FUT2）基因多态性与脊髓亚急性联合变性（SCD）的关系。方法：选择于2015年1月至2017年12月收治的93例SCD患者作为病例组，同期参加体检的健康自愿者100例作为对照组。采用聚合酶链反应-直接测序法检测FUT2基因T357C、A385T和G428A位点多态性，探讨FUT2基因多态性与血清维生素B12（VitB12）水平及SCD易感性的相关性。结果：在对照组中，G428A位点基因多态性与血清VitB12水平相关，携带A等位基因血清VitB12水平明显降低（P=0.036）；在病例组中，3个位点基因多态性与血清VitB12水平无明显相关性（均P>0.05）。校正年龄、性别等因素后，G428A位点基因多态性与SCD发病相关（等位基因模型：OR=3.142，95%CI：1.119~8.967，P=0.025；显性基因模型：OR=3.069，95%CI：1.051~9.227，P=0.032）；T357C和A385T位点基因多态性在SCD发病上差异无统计学意义（均P>0.05）。结论：FUT2基因G428A位点突变可影响血清VitB12水平，与SCD易感性相关。

Objective:To investigategenetic association between the fucosyltransferase 2 (FUT2) gene polymorphism and subacute combined degeneration (SCD) inHan descent population inShaanxi Province. Methods:Ninety-three patients with SCD from January 2015 to December 2017 were recruited in this study as case group. Meanwhile, 100 healthy volunteers were included as control group. The genotype was determined by polymerase chain reaction-direct sequencing for FUT2 gene T357C, A385T and G428A polymorphism. Clinical data were collected for statistical analysis. Genetic association between the FUT2 gene polymorphism and serum vitamin B12 (VitB12) level and susceptibility of SCD was investigated. Results:In the control group, G428A genetic polymorphisms were associated with serum VitB12 level. Serum VitB12 level of volunteers with A allele decreased significantly (P=0.036). In the case group, there was no association between the FUT2 gene polymorphism and serum VitB12 level (all P>0.05). G428A gene polymorphism was significantly associated with SCD both in allelic association analysis (OR=3.142, 95% CI 1.119-8.968, P=0.025) and in dominant model (OR=3.069, 95% CI 1.051-9.227, P=0.032) after adjustment for sex and age. There was no association between the T357C、A385T gene polymorphism and susceptibility of SCD. Conclusion:Polymorphism of FUT2 (G428A) affectsserum VitB12 concentration, and associate with the susceptibility of SCD.

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