MTHFR和VDR多态性与戒酒期间酒精依赖住院患者认知障碍和情感性症状的关系

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-08-15 DOI:10.1016/j.genrep.2025.102323

Danil Peregud , Valeria Baronets , Maxim Viksna , Olga Pavlova , Konstantin Pavlov

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引用次数: 0

摘要

背景：酒精依赖与认知障碍相关，常伴有抑郁和焦虑，在戒酒期间可能部分恢复。然而，相应的遗传标记仍然难以捉摸。本研究的目的是检测亚甲基四氢叶酸还原酶（MTHFR）基因rs1801133单核苷酸多态性（SNP）以及维生素D受体（VDR）基因rs7975232和rs1544410 SNP与戒酒后戒酒期间认知功能和情感症状的关系。方法对132例接受酒精戒断综合征治疗的酒精依赖住院患者进行研究。使用蒙特利尔认知评估（MoCA）工具评估认知障碍。采用贝克抑郁量表（BDI）和状态-特质焦虑量表（STAI）子量表-1评估情感症状的严重程度。在戒断后第7天和第21天分别进行心理测试。MTHFR rs1801133（也称为C677T或Ala222Val）、VDR rs7975232 （ApaI）和VDR rs1544410 (BsmI) snp采用实时PCR进行基因分型。采用重复测量方差分析和一般线性模型分别检验每个SNP及其相互作用对BDI、sti -1或MoCA评分的影响。结果与GG基因型携带者相比，携带MTHFR SNP rs1801133 A等位基因的人在研究前三个月内饮酒年龄更早，饮酒量更高。VDR snp与任何饮酒行为参数没有关联。作为单组因素，MTHFR rs1801133、VDR rs7975232和VDR rs1544410均未影响禁欲过程中认知表现的改善和情感性症状的减轻。然而，两两相互作用分析显示，MTHFR rs1801133 × VDR rs7975232和MTHFR rs1801133 × VDR rs1544410对BDI有显著影响，但对禁欲期间的MoCA或sti -1评分没有影响。与MTHFR rs1801133 A和VDR rs7975232 C等位基因携带者相比，MTHFR rs1801133 GG基因型和VDR rs7975232 C等位基因携带者在禁欲第7天的BDI评分显著高于VDR rs7975232 C等位基因携带者。此外，具有VDR rs1544410 CC基因型的MTHFR rs1801133 A等位基因携带者与具有VDR rs1544410 T等位基因的MTHFR rs1801133 A等位基因携带者在禁欲第7天的BDI评分显著低于具有VDR rs1544410 T等位基因携带者。结论MTHFR rs1801133、VDR rs7975232和rs1544410 snp单独对戒酒期认知功能障碍和情感性症状无影响。然而，MTHFR SNP rs1801133与VDR SNP rs7975232和rs1544410在戒酒早期的抑郁水平方面相互作用。

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Association of the MTHFR and VDR polymorphisms with cognitive impairment and affective symptoms in alcohol-dependent inpatients during abstinence

Background

Alcohol dependence is associated with cognitive impairment often accompanied by depression and anxiety with a potential of partial recovery during abstinence. However, the corresponding genetic markers remain elusive. The goal of this study was to examine an association of the rs1801133 single nucleotide polymorphism (SNP) in the methylenetetrahydrofolate reductase (MTHFR) gene as well as rs7975232 and rs1544410 SNPs in the vitamin D receptor (VDR) gene with cognitive function and affective symptoms during the abstinence period after alcohol withdrawal.

Methods

One hundred thirty-two alcohol-dependent inpatients admitted for alcohol withdrawal syndrome treatment were enrolled in the study. The Montreal Cognitive Assessment (MoCA) tool was used to assess cognitive impairment. The Beck Depression Inventory (BDI) and State-Trait Anxiety Inventory (STAI) subscale-1 were administered to assess the severity of affective symptoms. Psychometric testing was performed on the 7^th and 21^st days of abstinence. MTHFR rs1801133 (also known as C677T or Ala222Val), VDR rs7975232 (ApaI) and VDR rs1544410 (BsmI) SNPs were genotyped using real-time PCR. Repeated measures ANOVA and general linear models were used to test the effects of each SNP separately and their interactions on BDI, STAI-1 or MoCA scores.

Results

Carriers of the MTHFR SNP rs1801133 A allele had an earlier onset age of problem drinking and consumed a higher amount of alcohol within three months before the study as compared with the GG genotype carriers. The VDR SNPs did not associate with any drinking behavior parameters. Neither MTHFR rs1801133 nor VDR rs7975232 and VDR rs1544410 as single group factors influenced improvement of cognitive performance and decrease of affective symptoms over the course of abstinence. However, analysis of pairwise interactions demonstrated that both MTHFR rs1801133 × VDR rs7975232 and MTHFR rs1801133 × VDR rs1544410 had a significant effect on BDI, but not on MoCA or STAI-1 scores during abstinence. Carriers of both MTHFR rs1801133 GG genotype and VDR rs7975232 C allele had significantly higher BDI scores on the 7th day of abstinence as compared with carriers of the MTHFR rs1801133 A allele and VDR rs7975232 C allele. Moreover, carriers of the MTHFR rs1801133 A allele having the VDR rs1544410 CC genotype had significantly lower BDI scores on the 7th day of abstinence as compared with carriers of the MTHFR rs1801133 A allele having the VDR rs1544410 T allele.

Conclusion

According to the present data the MTHFR rs1801133, VDR rs7975232 and rs1544410 SNPs alone had no effect on cognitive impairment and affective symptoms during the alcohol abstinence period. However, the MTHFR SNP rs1801133 interacted with both VDR SNPs rs7975232 and rs1544410 in regard to depression levels during the earlier period of alcohol abstinence.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.