以單一核苷酸多型性為生物標記尋找原發性夜間遺尿候選基因和探討致病機制; Single nucleotide polymorphisms as biomarkers applied for searching candidate genes and exploring mechanisms of primary nocturnal enuresis

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Title:	以單一核苷酸多型性為生物標記尋找原發性夜間遺尿候選基因和探討致病機制;Single nucleotide polymorphisms as biomarkers applied for searching candidate genes and exploring mechanisms of primary nocturnal enuresis
Authors:	魏長菁;Chang-Ching Wei
Contributors:	中國醫藥大學：醫學研究所碩士班
Keywords:	單一核苷;酸多型性;原發性夜間遺尿;候選基因;Single nucleotide polymorphisms;primary nocturnal enuresis;candidate genes
Date:	2006-07-10
Issue Date:	2009-08-13 14:50:56 (UTC+8)
Abstract:	原發性夜間遺尿為一常見之兒童問題，原發性夜間遺尿在七歲兒童之盛行率約百分之十。原發性夜間遺尿不但會造成兒童和父母莫大精神上的壓力，同時原發性夜間遺尿的小朋友也常常會自信心受挫。僅管目前有許多研究投注在探討原發性夜間遺尿的成因，但是至今仍是成因不明。目前的文獻認為造成之致病因子相當廣泛，其可能病因包括基因遺傳、神經發育延遲、睡眠障礙礙、心理及行為問題、夜晚抗利尿激素分泌不足等‧ 正常排尿功能須包含正常與協調的日夜週期性抗利尿激素的製造與成熟的中樞神經及相關傳導物質調控-能抑制夜晚膀胱不自主的收縮。目前許多學者認為原發性夜間遺尿是多種疾病，由多種基因的影響。我們希望藉由釐清原發性夜間遺尿的各種臨床表現，對它的遺傳性有更深入的了解。單一核苷酸多型性為一人類之最常見之DNA序列變異‧基因功能之特異表現是影響疾病形成之重要因素之一，近年來，以單一核苷酸多型性作為偵測各種疾病之工具已越來越普遍的使用，基因異常表現也許是形成原發性夜尿之可能原因‧於本實驗中我們將以vasopressin及神經傳導物質之基因多形性‧我們將分析這些基因多形性與原發性夜間遺尿之關聯性‧我們亦嘗試進一步分析這些多形體基因與原發性夜間遺尿不同亞型之關聯性，對於可能相關之分子生物機轉亦將進一步探討‧ 本文是第一篇文章尋找5HTR2A單一核苷酸多型性和原發性夜間遺尿的關連，而且本研究結果發現5HTR2A單一核苷酸多型性和多症狀原發性夜間遺尿有關，尤其是TT genotype。再次驗證尿床並非單一疾病，它至少可以區分為單一症狀原發性夜間遺尿或多症狀原發性夜間遺尿，多症狀原發性夜間遺尿會合併膀胱和腸道症狀，這兩種亞型形成原因可能不同，而serotonin在多症狀原發性夜間遺尿上則扮演著重要的角色。這實驗結果在原發性夜間遺尿遺傳研究的路上開啟一扇窗，在原發性夜間遺尿遺傳研究上，並且幫助我們更了解原發性夜間遺尿複雜的原因和神經傳導物質之間的關係。 Primary nocturnal enuresis (PNE) is a common childhood problem. The incidence of PNE is approximately 10% of 7-year-old children. PNE make significant psychosocial distresses for both children and their parents and a child with PNE seems to have low confidence. Despite numerous studies on PNE, its etiology remains elusive. The etiology of PNE is multifactor, involving genetic influence, maturational delay, sleep disorder, psychological problem and decreased nighttime secretion of antidiuretic hormone. Normal voiding might include the synchronized circadian rhythm in the secretion of arginine vasopressin (AVP) and functional maturation of the central nervous system (CNS), which reduces the child''s ability to inhibit bladder emptying at night. Our major concerns for PNE are the compromised vasopressin production and the balance of CNS transmitters. Single nucleotide polymorphisms (SNPs) are the most abundant types of DNA sequence variation in the human genome. The SNP marker provides a new way for the identification of complex gene-associated diseases such as PNE. We tried to use SNPs as biomarkers to search candidate genes and the pathogenesis of PNE. This study is the first to search the 5HTR2A gene polymorphisms in children with PNE. It was determined that 5HTR2A gene polymorphism, a predominantly TT genotype, may be associated with non-mono-symptomatic NE in Taiwanese children. These findings confirm previous observation that the heterogenisity of NE and open a window for the future research to find the mechanisms of NE.
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