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单核苷酸多态性与肠易激综合征风险及症状的关联

The Associations of Single Nucleotide Polymorphisms with Risk and Symptoms of Irritable Bowel Syndrome.

作者信息

Zhao Tingting, Zhang Yiming, Lee Joochul, Starkweather Angela R, Young Erin E, Cong Xiaomei

机构信息

School of Nursing, University of Connecticut, Storrs, CT 06269, USA.

Department of Statistics, University of Connecticut, Storrs, CT 06269, USA.

出版信息

J Pers Med. 2022 Jan 21;12(2):142. doi: 10.3390/jpm12020142.

DOI:10.3390/jpm12020142
PMID:35207633
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8878682/
Abstract

Although several risk single nucleotide polymorphisms (SNPs) have been found to play an important role in etiology of irritable bowel syndrome (IBS), the findings are inconsistent. A descriptive correlational design was used to analyze the baseline data of a randomized controlled trial including participants with IBS and healthy controls (HC). Pain severity and interference, anxiety, sleep, and fatigue were measured using the Brief Pain Inventory (BPI) and patient-reported outcomes measurement information system (PROMIS). Fisher's exact test and multivariate linear regression were used to investigate the associations between IBS risk alleles and IBS symptoms. Participants were predominantly female, white, and had an average age of 21.13 ± 2.42 years. Polymorphisms within (rs4263839), 5-HTTLPR, (rs1062613), and (rs2254298) were associated with IBS risk, and (rs4263839), (rs6269), 5-HTTLPR polymorphisms were associated with pain severity. (rs4263839) and (rs4680; rs4633) genotypes were associated with sleep disturbance, and the SNP rs1556832 was associated with fatigue in both IBS and HC groups. Genotypic differences were associated with IBS risk and symptoms including abdominal pain, sleep disturbance, and fatigue. Further investigation is warranted to reveal the mechanisms by which these genetic variations influence the dynamic nature of IBS symptoms over time.

摘要

尽管已发现多个风险单核苷酸多态性(SNP)在肠易激综合征(IBS)的病因中起重要作用,但研究结果并不一致。采用描述性相关性设计分析一项随机对照试验的基线数据,该试验纳入了IBS患者和健康对照(HC)。使用简明疼痛量表(BPI)和患者报告结局测量信息系统(PROMIS)测量疼痛严重程度和干扰、焦虑、睡眠及疲劳情况。采用Fisher精确检验和多元线性回归研究IBS风险等位基因与IBS症状之间的关联。参与者主要为女性、白人,平均年龄为21.13±2.42岁。(rs4263839)、5 - HTTLPR、(rs1062613)和(rs2254298)内的多态性与IBS风险相关,(rs4263839)、(rs6269)、5 - HTTLPR多态性与疼痛严重程度相关。(rs4263839)和(rs4680;rs4633)基因型与睡眠障碍相关,SNP rs1556832在IBS组和HC组中均与疲劳相关。基因型差异与IBS风险及症状相关,包括腹痛、睡眠障碍和疲劳。有必要进一步研究以揭示这些基因变异随时间影响IBS症状动态变化的机制。

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