Association of the NOTCH4 gene polymorphism with schizophrenia in the Indian population

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2021-09-01 DOI:10.1016/j.mgene.2021.100903

Kiran Kumar PVSN , Prasenjit Mitra , Raghumoy Ghosh , SaiKiran Gangam , Shailja Sharma , Naresh Nebhinani , Praveen Sharma

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引用次数: 0

Abstract

Schizophrenia is a chronic serious neuropsychiatric disorder with a prevalence of 1% worldwide. Neurogenic locus NOTCH homolog protein 4 known as the NOTCH4 gene is located on chromosome 6p. NOTCH4 protein is a transmembrane protein that plays a major role in cell signaling pathways and cell differentiation. NOTCH4 SNP rs367398 is located in the gene's largest intron, intron 18, which is an area of known importance in transcriptional regulation and may be related to schizophrenia. Although many studies have shown the association of NOTCH4 polymorphism with schizophrenia, the exact molecular mechanism behind this still unknown. This study was aimed to determine the frequency of NOTCH4 rs367398 & rs387071 polymorphism and its association with schizophrenia. In total, 150 schizophrenia patients and 100 healthy controls were recruited from psychiatry department after obtaining written informed consent. NOTCH4 polymorphism was genotyped using PCR-RFLP. Positive and Negative Syndrome Scale (PANSS) and Global assessment of functioning (GAF) were used to assess the severity of schizophrenia. Both the NOTCH4 rs367398 & rs387071 genotypes were significantly associated with schizophrenia. On gender based analysis, the rs387071 was significantly associated with schizophrenia in males and whereas the rs367398 is associated with females of the study group. Further, the haplotype analysis has also supported the association of NOTCH4 locus with schizophrenia (Global haplotype association p = 0.021). The findings of the study suggest that the NOTCH4 polymorphism is significantly associated with schizophrenia in Indian population. These SNPs might also have an important role in the symptomatology of the disease.

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印度人群中NOTCH4基因多态性与精神分裂症的关系

精神分裂症是一种慢性严重神经精神疾病，全球患病率为1%。神经源性位点NOTCH同源蛋白4被称为NOTCH4基因位于染色体6p上。NOTCH4蛋白是一种跨膜蛋白，在细胞信号通路和细胞分化中起重要作用。NOTCH4 SNP rs367398位于该基因最大的内含子内含子18中，这是一个已知的转录调控重要区域，可能与精神分裂症有关。尽管许多研究表明NOTCH4多态性与精神分裂症有关，但其确切的分子机制尚不清楚。本研究旨在确定NOTCH4 rs367398 &Rs387071多态性及其与精神分裂症的关系在获得书面知情同意后，从精神科共招募精神分裂症患者150名和健康对照100名。采用PCR-RFLP对NOTCH4多态性进行基因分型。采用阳性和阴性症状量表(PANSS)和整体功能评估(GAF)来评估精神分裂症的严重程度。NOTCH4 rs367398 &Rs387071基因型与精神分裂症显著相关。在基于性别的分析中，rs387071与男性的精神分裂症显著相关，而rs367398与研究组的女性相关。此外，单倍型分析也支持NOTCH4位点与精神分裂症的关联(全局单倍型关联p = 0.021)。研究结果表明，NOTCH4多态性与印度人群的精神分裂症显著相关。这些snp也可能在疾病的症状学中起重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.