[1]彭俊宇,邢红霞,吴亦琦,等.组蛋白去乙酰化酶9基因rs73307079位点与烟雾病发生风险的关系[J].新乡医学院学报,2022,39(11):1036-1040.[doi:10.7683/xxyxyxb.2022.11.007]
　PENG Junyu,XING Hongxia,WU Yiqi,et al.Relationship between rs73307079 locus of histone deacetylase 9 gene and the risk of moyamoya disease[J].Journal of Xinxiang Medical University,2022,39(11):1036-1040.[doi:10.7683/xxyxyxb.2022.11.007]
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组蛋白去乙酰化酶9基因rs73307079位点与烟雾病发生风险的关系
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《新乡医学院学报》[ISSN:1004-7239/CN:41-1186/R]

卷:
39
期数:
2022年11
页码:
1036-1040
栏目:
临床研究
出版日期:
2022-11-05

文章信息/Info

Title:
Relationship between rs73307079 locus of histone deacetylase 9 gene and the risk of moyamoya disease
作者:
彭俊宇1; 2; 邢红霞2; 3; 吴亦琦4; 刘梦豪1; 5; 左书茜1; 5; 张雪薇2; 3; 邢瑶平2; 3; 李超堃4; 赵新利6
（1.新乡医学院第一附属医院神经内科，河南　卫辉　453100;2.新乡市运动障碍性疾病重点实验室，河南　新乡　453003;3.新乡医学院第三附属医院神经内科，河南　新乡　453003;4.新乡医学院基础医学院生理学与病理生理学教研室，河南　新乡　453003;5.河南省生物精神病学重点实验室，河南　新乡　453002；6.新乡医学院第一附属医院神经外科，河南　卫辉　453100）
Author(s):
PENG Junyu1; 2; XING Hongxia2; 3; WU Yiqi4; LIU Menghao1; 5; ZUO Shuqian1; 5; ZHANG Xuewei2; 3; XING Yaoping2; 3; LI Chaokun4; ZHAO Xinli6
(1.Department of Neurology,the First Affiliated Hospital of Xinxiang Medical University,Weihui 453100;2.Xinxiang Key Laboratory of Movement Disorders,Xinxiang 453003;3.Department of Neurology,the Third Affiliated Hospital of Xinxiang Medical University,Xinxiang 453003;4.School of Basic Medicine,Xinxiang Medical University,Xinxiang 453003;5.Henan Key Laboratory of Biological Psychiatry,Xinxiang 453002;6.The First Affiliated Hospital of Xinxiang Medical University,Weihui 453100)
关键词:
烟雾病; 组蛋白去乙酰化酶9; 基因型; 卒中
Keywords:
moyamoya disease; histone deacetylase 9; genotype; stroke
分类号:
R743.9
DOI:
10.7683/xxyxyxb.2022.11.007
文献标志码:
A
摘要:
目的　探讨烟雾病(MMD)患者组蛋白去乙酰化酶9(HDAC9)基因rs73307079位点与MMD发生风险的关系及该位点不同基因型对HDAC9基因表达的影响。方法　选择2019年9月至2020年12月于新乡医学院第一附属医院神经内科及神经外科就诊的54例MMD患者为MMD组，另选择53例性别、年龄与MMD组匹配的健康体检者作为对照组。取所有受试者空腹外周静脉血，提取基因组DNA，采用聚合酶链式反应法扩增HDAC9基因rs73307079位点DNA片段并测序，应用Chromas软件分析所有受试者的HDAC9基因 rs73307079位点基因型。采用二元logistic分析多重遗传模型（加性、显性、隐性、超显性）下HDAC9基因 rs73307079位点不同基因型与MMD发生风险的关联性。采用实时定量聚合酶链式反应法检测HDAC9基因 mRNA相对表达量。结果　MMD组和对照组受试者rs73307079位点均存在TT、TC、CC 3种基因型及T、C 2种等位基因。MMD组受试者TT基因型频率显著低于对照组（P<0.05），TC基因型频率显著高于对照组（P<0.05）；2组受试者的CC基因型频率比较差异无统计学意义（P>0.05）；2组受试者的T、C 2种等位基因分布差异无统计学意义（P>0.05）。在加性遗传模型下，TC基因型携带者发生MMD的风险显著高于TT基因型携带者（P<0.05），CC基因型携带者与TT基因型携带者的MMD发生风险比较差异无统计学意义（P>0.05）；在显性遗传模型下，TC+CC基因型携带者发生MMD的风险显著高于TT基因型携带者（P<0.05）；在隐性遗传模型下，CC基因型携带者与TT+TC基因型携带者的MMD发生风险比较差异无统计学意义（P>0.05）；在超显性遗传模型下，TC基因型携带者发生MMD的风险显著高于TT+CC基因型携带者（P<0.05）。MMD组患者中rs73307079位点TT、TC、CC基因型患者的HDAC9 mRNA相对表达量分别为1.173±0.642、1.123±0.203、1.045±0.386，两两比较差异均无统计学意义（P>0.05）。结论　HDAC9基因rs73307079位点基因型多态性与MMD的发生存在关联，但不影响HDAC9基因表达水平，该位点的TC基因型携带者具有较高的MMD发病风险。
Abstract:
Objective　To investigate the relationship between rs73307079 locus of histone deacetylase 9 (HDAC9) gene and the risk of moyamoya disease (MMD),and the effect of different genotypes of this locus on the expression of HDAC9 gene.Methods　A total of 54 patients with MMD who visited the Department of Neurology and Surgery of the First Affiliated Hospital of Xinxiang Medical University from September 2019 to December 2020 were selected as the MMD group,and 53 healthy subjects whose gender and age were matched with the MMD group were selected as the control group.Fasting peripheral venous blood was taken from all subjects,and genomic DNA was extracted.The DNA fragment at the rs73307079 locus of HDAC9 gene was amplified by polymerase chain reaction and sequenced.The genotype at the rs73307079 locus of HDAC9 gene of all subjects was analyzed by Chromas software.The association between different genotypes at rs73307079 locus of HDAC9 gene and the risk of MMD under the multiple genetic model (additive,dominant,recessive,overdominant) was analyzed by binary logistic.The relative expression of HDAC9 gene mRNA was detected by quantitative real-time polymerase chain reaction.Results　There were three genotypes of TT,TC and CC and two alleles of T and C at the rs73307079 locus of HDAC9 gene of subjects in the MMD group and the control group.The frequency of TT genotype of subjects in the MMD group was significantly lower than that in the control group (P<0.05),and the frequency of TC genotype was significantly higher than that in the control group (P<0.05);there was no significant difference in the frequency of CC genotype of subjects between the two groups (P>0.05);there was no significant difference in the distribution of T and C alleles of subjects between the two groups (P>0.05).Under the additive genetic model,the risk of MMD in the TC genotype carriers was significantly higher than that in the TT genotype carriers (P<0.05);there was no significant difference in the risk of MMD between the CC and TT genotype carriers (P>0.05).Under the dominant genetic model,the risk of MMD in TC+CC genotype carriers was significantly higher than that in TT genotype carriers (P<0.05).Under the recessive genetic model,there was no significant difference in the risk of MMD between CC genotype carriers and TT+TC genotype carriers (P>0.05).Under the overdominant genetic model,the risk of MMD in TC genotype carriers was significantly higher than that in TT+CC genotype carriers (P<0.05).The relative expression levels of HDAC9 mRNA in patients with the TT,TC and CC genotypes at rs73307079 locus of patients in the MMD group were 1.173±0.642,1.123±0.203 and 1.045±0.386,respectively;and there was no significant difference between pairwise comparisons (P>0.05).Conclusion　The genotype polymorphism at rs73307079 locus of HDAC9 gene was associated with the occurrence of MMD,but did not affect the expression level of HDAC9 gene.Carriers of TC genotype at rs73307079 locus had a higher risk of MMD.

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更新日期/Last Update: 2022-12-01