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印度尼西亚西苏门答腊省HB Saanin精神病医院中与偏执型精神分裂症患者风险相关的基因变异关联研究

Association of Variants in and with the Risk of Paranoid Schizophrenia Patients in Prof HB Saanin Psychiatric Hospital, West Sumatra, Indonesia.

作者信息

Yunaini Luluk, Khairat Edwina

机构信息

Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.

Master's Programme in Biomedical Science, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.

出版信息

Malays J Med Sci. 2022 Apr;29(2):31-42. doi: 10.21315/mjms2022.29.2.4. Epub 2022 Apr 21.

Abstract

BACKGROUND

Schizophrenia is a multifactorial disease in which genetic factors play a greater role than other factors. The genes of importance in schizophrenia patients are the genes that encode for neurotransmitters associated with low minor allele frequency (MAF) scores. This study was aimed to determine the association of genetic variations in , and with the risk of paranoid schizophrenia (PS) in patients admitted to Prof HB Saanin Psychiatric Hospital, West Sumatra, Indonesia.

METHODS

Genotyping analysis through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR-amplification refractory mutation system (ARMS) was performed in 100 PS patients and 100 healthy controls. Chi-square and Fisher's exact tests were used to compare the frequencies of genotype and allotype between the PS and control groups. Odds ratio (OR) with 95% confidence interval (95% CI) were calculated to determine the relative risk of PS with respect to genetic variations.

RESULTS

Polymorphism rs13142920 in was associated with significantly elevated risk of PS ( 0.020; OR = 1.60 [95% CI: 1.08, 2.39]). However, rs4680 and rs2073499 polymorphisms were not significantly associated with PS.

CONCLUSION

The rs13142920 polymorphism holds great potential as a genetic marker in PS patients.

摘要

背景

精神分裂症是一种多因素疾病,其中遗传因素比其他因素发挥更大作用。在精神分裂症患者中重要的基因是那些编码与低次要等位基因频率(MAF)分数相关的神经递质的基因。本研究旨在确定印度尼西亚西苏门答腊省HB Saanin教授精神病医院收治的患者中,[具体基因名称1]、[具体基因名称2]和[具体基因名称3]的基因变异与偏执型精神分裂症(PS)风险的关联。

方法

对100例PS患者和100例健康对照进行聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和PCR-扩增阻滞突变系统(ARMS)基因分型分析。采用卡方检验和Fisher精确检验比较PS组和对照组之间的基因型和异型频率。计算比值比(OR)及95%置信区间(95%CI)以确定PS相对于基因变异的相对风险。

结果

[具体基因名称1]中的多态性rs13142920与PS风险显著升高相关(P = 0.020;OR = 1.60 [95%CI:1.08,2.39])。然而,[具体基因名称2]的rs4680和[具体基因名称3]的rs2073499多态性与PS无显著关联。

结论

[具体基因名称1]的rs13142920多态性在PS患者中作为遗传标志物具有巨大潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f58/9036935/a6ea8e325c50/04mjms2902_oaf1.jpg

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