Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.
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DOI：
10.1007/s10620-009-0903-4
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发表时间：
2009-11
影响因子：
3.1
通讯作者：
Camilleri, Michael
中科院分区：
文献类型：
--
作者：
Camilleri, Michael
家族聚集性和同胞对研究表明，肠易激综合征（IBS）的发生与遗传有关。本研究的目的是根据遗传流行病学、中间表型相关性研究和药物遗传学，综述IBS的遗传学证据。与IBS症状表型的遗传关联研究通常提供了许多候选基因研究的不一致结果，如SLC 6A 4，GNB 3和IL-10。迄今为止，还没有IBS的全基因组关联研究。候选基因与中间表型的关联研究表明与运动和感觉功能的病理生理机制有关;然而，这些结果还需要复制。药物遗传学研究说明了遗传学对治疗反应的影响潜力，如在SLC 6A 4中观察到的，以及对5-HT 3拮抗剂阿洛司琼和5-HT 4激动剂替加色罗的反应。虽然IBS复杂疾病中的遗传成分和遗传学仍然知之甚少，但对自发遗传变异和功能改变之间关系的研究可能会为该疾病的机制提供新的见解。
Familial aggregation and sibling pair studies suggest there is a genetic contribution to development of irritable bowel syndrome (IBS). The aim of this study was to review the evidence of genetics in IBS based on genetic epidemiology, studies of association with intermediate phenotypes and pharmacogenetics. Genetic association studies with IBS symptom phenotype have generally provided inconsistent results for many candidate genes investigated, such as SLC6A4, GNB3 and IL-10. There have been no genome wide association studies in IBS to date. Studies of associations of candidate genes with intermediate phenotypes suggest associations with pathophysiological mechanisms of motor and sensory functions; however, these results also require replication. Pharmacogenetics studies illustrate the potential of genetics to impact on response to therapy, as observed with SLC6A4 and responses to the 5-HT3 antagonist alosetron and the 5-HT4 agonist, tegaserod. While the heritable component and genetics in the complex disorder of IBS are still poorly understood, studies of the associations of spontaneous genetic variations and altered functions may provide novel insights of the mechanisms contributing to the disease.
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DOI：
10.1196/annals.1418.000
发表时间：
2008-01-01
期刊：
Neural Signaling: Opportunities for Novel Diagnostic Approaches and Therapies
影响因子：
--
作者：
Miller, Laurence J.
通讯作者：
Miller, Laurence J.
影响因子：
29.4
作者：
Andresen, Viola;Camilleri, Michael;Zinsmeister, Alan R.
通讯作者：
Zinsmeister, Alan R.
DOI：
10.1152/ajpgi.90650.2008
发表时间：
2009-03-01
影响因子：
4.5
作者：
Camilleri, Michael;Carlson, Paula;Boles, Richard G.
通讯作者：
Boles, Richard G.
DOI：
10.1152/ajpgi.00371.2007
发表时间：
2008-01-01
影响因子：
4.5
作者：
Camilleri, Michael;Carlson, Paula;Zinsmeister, Alan R.
通讯作者：
Zinsmeister, Alan R.
影响因子：
9.8
作者：
Mohammed, I;Cherkas, LF;Trudgill, NJ
通讯作者：
Trudgill, NJ