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Please use this identifier to cite or link to this item: http://ir.hwai.edu.tw:8080/ir/handle/310996100Q/1632

Title: MTERFD3基因單一核苷酸多型性在情感性疾患的影響
Effects of single nucleotide polymorphism of MTERFD3 gene on mood disorders
Authors: 洪筑琪
CHI, HUNG CHU
Keywords: MTERFD3
情感性疾患
躁鬱症
單一核苷酸多型性
MTERFD3
mood disorders
Bipolar disorders
single nucleotide polymorphism
Date: 2013
Issue Date: 2013-11-01 10:22:42 (UTC+8)
Abstract: 中文摘要
背景:
在一般人群中很常見的情感性疾患,主要是重度憂鬱症(MDD)和雙極性情感性障礙疾病(BPD躁鬱症,包括BP I第一型躁鬱症和BP II第二型躁鬱症)。然而,很少有人知道情感性疾患和基因之間的臨床特徵。本研究目的是探討情感性疾患與相互關聯的MTERFD3基因單一核苷酸多型性之間的臨床特徵。
材料與方法:
這項研究中有1242位參加者,464位個案,522位家屬和256位健康控制組,2008年至2012年在台灣南部及北部共六個臨床單位收案,包括診所、區域醫院或醫學中心。參加者接受訓練過的研究助理,採用複合性國際診斷訪談問卷(CIDI),收集人口學和臨床特徵的資料。資料的收集來自重度憂鬱或躁鬱症患者,以及他們的家屬和其他無血緣健康成員。我們探討MTERFD3基因單一核苷酸多型性與臨床特徵間的相關性研究,也轉殖MTERFD3基因的啟動子,觀察單一核苷酸多型性對啟動子活性的影響。
結果:
使用PSQI匹茲堡睡眠品質量表,評估在過去的一個月受試者的睡眠情況,在個案與家屬和控制組間有顯著差異。該項目含睡眠品質 (p<0.001)、潛伏期 (P <0.001)、效率 (P <0.001)、睡眠困擾(P <0.001)、使用安眠藥 (P <0.001) 和白天功能 (P <0.001)。但是與睡眠時間沒有顯著差異(P =0.274)。接下來分別分析量表總分和七項指標在不同基因型間與診斷之間的關係,分別比較三基因型(CC、CG、GG)或合併C基因型(CC/CG、GG)或G基因型(CC、CG/GG)進行兩組比較。整體言之,不同診斷之間常有顯著性差異,除品質指標在CC/CG與GG比較時兩因子有交互作用外,其餘皆無交互作用。而單一核苷酸多型性不同基因型對自殺、焦慮與憂鬱的發生也沒有影響。為進一步分析該單一核苷酸多型性是否對特定族群的影響較大,分別探討CC、CG、GG三基因型或合併CC/CG型與GG型比較或合併CG/GG型與CC型比較,以及將病人組和健康組合併單獨進行比對分析,結果發現自殺、焦慮、憂鬱與躁症和該單一核苷酸多型性均沒有顯著相關。但在探討單一核苷酸多型性對基因啟動子活性的影響上,我們發現rs2287161單一核苷酸多型性會影響MTERFD3啟動子活性,G較C的啟動子活性為高。
結論:
從這個研究結果可以為我們提供更多的診斷資訊和醫療資源利用,做為未來預防精神疾病發展的參考。
Abstract
Backgrounds:
Affective disorders, mainly depressive (MDD) and bipolar disorders (BPD, including BP I and BP II), are common in the general population. However, little is known between genes and their clinical features. The aim of this study is to correlate SNP rs2287161 of MTERFD3 gene with clinical features.
Materials and Methods:
There were 1242 participants in this study, including 464 probands, 522 relatives and 256 controls from six clinics, regional hospitals or medical centers in the southern and northern Taiwan from 2008 to 2012. Participants were interviewed by well-trained interviewers using Composite International Diagnostic Interview (CIDI) to collect data on demographic and clinical features. The data were collected from patients with depression or bipolar disorder, their families and other normal people. We also cloned the promoters with different SNPs of MTERFD3 gene to study the correlation of SNPs and clinical features. The promoter activities were measured by Dual luciferase assay system and in a luminometer.
Results:
The Pittburgh Sleep Quality Index was used to assess the sleep situation of subjects in the past month. There were significant differences among probands, relatives and controls. The items are quality (p<0.001), latency (p<0.001), efficiency (p<0.001), disturbances (p<0.001), use of medications (p<0.001) and day-life dysfunction (p<0.001). However, there was no significant difference in sleep duration (p=0.274). To study the interaction of diagnoses (BPI and II) and the SNP rs2287161 of MTERFD3 in PSQI, we didvided the all cases into three genotype groups (CC, CG and GG) or two groups (CC/CG, GG or CG/GG, CC). In general, the scores of PSQI are signicantly different in disgnosis. Except for quality in comparison of groups CC/CG and GG, there are no interactions of diagnosis and this SNP of MTERFD3in other items. We also correlated the different behaviors, such as suicide, anxiety and depression, with this SNP of MTERFD3 and found that this SNP is not associated with these behaviors. To further study the correlation of behaviors and this SNP, we analyzed the data of controls and patients individually and found that this SNP is not associated with these behaviors. To understand if this SNP inloves in MTERFD3gene expression, we cloned the promoter fragments with different alleles on this SNP and found that G allele exerts higher promoter activity than C.
Conclusion:
The results from this study may provide us more information for development of diagnosis and medical resource utilization for preventing mental diseases in the future.
Appears in Collections:[生物科技系暨生物醫學研究所] 博碩士論文

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