伊朗人群中ZNF804A变异rs7597593与双相情感障碍可能关联的评估

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-06-09 DOI:10.1016/j.genrep.2025.102276

Mahsa Zobeiry , Mohsen Razafsha , Hoorie Mohaghghegh , Esmaeil Shahsavand Ananloo

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引用次数: 0

摘要

目的评价伊朗人群锌指蛋白804a基因（ZNF804A）变异（rs7597593）与双相情感障碍（BD）的相关性。研究对象与方法对260名受试者（即130名BD患者和130名健康对照）进行单核苷酸多态性rs7597593基因分型。采用韦氏成人智力量表（WAIS）评定认知障碍患者的智商；包括语言，表现和总智商。结果：不论性别，双相障碍患者的语言、表现和总智商均显著降低(P <；措施)。T等位基因在双相障碍患者中明显更常见，与性别无关(P <；措施)。同样，rs7597593 TT基因型在共显性、显性和隐性三种遗传模式下的BD患者中更为普遍(P <；措施)。当按性别分层时，TT基因型在两性共显性遗传中更为普遍(P <；.001)，男性患者存在隐性遗传(P <；.001)，女性患者存在显性遗传(P <；措施)。结论本研究表明，伊朗人群BD病例中存在T等位基因和ZNF804A基因rs7597593的TT基因型。据推测，T等位基因与双相障碍的风险增加有关。

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Evaluation of the possible association of ZNF804A variant rs7597593 with bipolar disorder in an Iranian population

Objective

To evaluate the association between the selected zinc finger protein 804 A gene (ZNF804A) variant (rs7597593) with bipolar disorder (BD) in an Iranian population.

Participants and Methods

The single nucleotide polymorphism rs7597593 was genotyped in 260 participants (i.e., 130 BD patients and 130 healthy controls). Cognitive impairments were assessed by the Wechsler Adult Intelligence Scale (WAIS) for intelligence quotient (IQ); including verbal, performance, and total IQs.

Results

Verbal, performance, and total IQs were significantly lower in BD patients, irrespective of sex (all P < .001). The T allele was significantly more frequent in BD participants regardless of their sex (P < .001). Similarly, the TT genotype of rs7597593 was significantly more prevalent in BD patients in all three models of co-dominant, dominant, and recessive inheritance (all P < .001). When stratified based on sex, the TT genotype was significantly more prevalent in the co-dominant inheritance in both sexes (P < .001), recessive inheritance in male patients (P < .001), and dominant inheritance in female patients (P < .001).

Conclusion

Our study showed that the T allele and the TT genotype of rs7597593 of the ZNF804A gene were over-represented in BD cases in the Iranian population. Presumably, the T allele is associated with an increased risk of BD.

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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.