IL-1α, IL-1β and IL-1RN haplotypes are associated with bipolar I disorder and its characteristics: A pilot case-control study

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100977
Ali Talaei , Fahimeh Afzaljavan , Andisheh Talaei
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引用次数: 2

Abstract

Background

Bipolar I disorder (BID) is a severe psychiatric disease with a confirmed strong hereditary pattern. However, the genetic component is not completely clear to design the diagnostic tests. In this pilot study, we aimed to evaluate the association of haplotypes, including four polymorphisms in the IL-1 region, with BID in a sample of the Iranian population.

Methods

In a case-control study, genotyping of 95 subjects (48 BID and 47 healthy samples) were performed using PCR-based methods for IL-1α (rs1800587), IL-1b +3954 (rs1143634), IL-1b −511 (rs16944) and IL-1RN (VNTR; rs2234663) loci. PHASE was used for haplotyping, and data were analyzed using SPSS 16.

Results

Out of 55 haplotypes and 121 diplotypes, three haplotypes including two SNPs (C-T of rs1800587-rs16944, p = 0.007, T-C of rs1143634-rs16944, p = 0.044 and T-A1 of rs16944-rs2234663, p = 0.030) and one haplotype including three SNPs (C-C-T of rs1800587-rs1143634-rs16944, p = 0.012) and one diplotype including two SNPs (C-T/C-T of rs1800587-rs16944, p = 0.032) were identified to be associated with the risk of the disease. In addition, several haplotypes and diplotypes were associated with the disease's features, including the age of onset, the type of first episode and the history of depressive episodes.

Conclusion

Our findings suggest a diagnostic role of the interleukin-1 region in the BID. The risky haplotypes may carry one or more susceptibility alleles, and the evaluation of their action will aid individual-level risk prediction.

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IL-1α, IL-1β和IL-1RN单倍型与双相I型及其特征相关:一项试点病例对照研究
背景双相情感障碍(BID)是一种严重的精神疾病,具有强烈的遗传模式。然而,设计诊断测试的基因成分并不完全清楚。在这项初步研究中,我们旨在评估伊朗人群样本中单倍型(包括IL-1区域的四种多态性)与BID的关系。方法在病例对照研究中,采用基于pcr的方法对95例受试者(48例BID和47例健康样本)进行IL-1α (rs1800587)、IL-1b +3954 (rs1143634)、IL-1b−511 (rs16944)和IL-1RN (VNTR)基因分型;rs2234663)位点。采用PHASE进行单倍型分析,数据采用SPSS 16进行分析。结果55个单倍型和121个双倍型中,3个单倍型包括2个snp (rs1800587-rs16944的C-T, p = 0.007, rs1143634-rs16944的T-C, p = 0.044, rs16944-rs2234663的T-A1, p = 0.030)、1个单倍型包括3个snp (rs1800587-rs1143634-rs16944的C-C-T, p = 0.012)和1个双倍型包括2个snp (rs1800587-rs16944的C-T/C-T, p = 0.032)与该病的发病风险相关。此外,几种单倍型和双倍型与该疾病的特征相关,包括发病年龄、首次发作类型和抑郁发作史。结论白细胞介素-1区域在BID中具有诊断作用。风险单倍型可能携带一个或多个易感等位基因,对其行为的评估将有助于个体水平的风险预测。
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来源期刊
Meta Gene
Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
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.
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