Genetics of human gastrointestinal sensation.
Genetics of human gastrointestinal sensation.
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DOI：
10.1111/nmo.12132
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发表时间：
2013-06
影响因子：
3.5
通讯作者：
Camilleri M
中科院分区：
文献类型：
--
作者：
Camilleri M
目的是回顾人类内脏痛的遗传学，特别强调与肠易激综合征相关的疼痛。最常用于识别内脏高敏感性的生物标志物是内脏（例如直肠）扩张期间的感觉等级和阈值或脑成像。遗传学研究表明，参与离子通道功能、神经递质合成、再摄取或受体功能以及炎性疾病易感基因座的候选基因控制的变化可能会影响腹痛或IBS症状表型或直肠感觉的数量性状（中间表型）的患病率变化。候选基因包括SLC6A4，CNR1和TNFSF15，反映血清素再摄取，大麻素受体和炎症屏障功能。然而，除了TNFSF 15，其他候选基因仅与疼痛、IBS症状复合体或感觉的数量性状单变量相关。这些数据产生了假设，并为研究人类内脏痛的机制和治疗提供了机会，这仍然是IBS和功能性腹痛患者未满足的临床需求。
The objective is to review the genetics of human visceral pain with particular emphasis on pain associated with irritable bowel syndrome. The biomarkers most commonly employed in identifying visceral hypersensitivity are sensation ratings and thresholds or brain imaging during viscus (e.g. rectal) distension. Genetic studies suggest that variation in the control of candidate genes involved in ion channel function, neurotransmitter synthesis, reuptake or receptor functions, and inflammatory disease susceptibility loci may impact variations in prevalence of the symptom phenotype of abdominal pain or IBS, or quantitative traits (intermediate phenotypes) of rectal sensation. The candidate genes include SLC6A4, CNR1, and TNFSF15 reflecting serotonin reuptake, cannabinoid receptors and inflammatory-barrier functions. However, other than TNFSF15, the other candidate genes are only univariately associated with pain, IBS symptom complex or quantitative traits of sensation. These data have generated hypotheses and present opportunities for study of mechanisms and treatment of visceral pain in humans, which remains an unmet clinical need in patients with IBS and functional abdominal pain.
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影响因子：
29.4
作者：
Kilpatrick LA;Labus JS;Coveleskie K;Hammer C;Rappold G;Tillisch K;Bueller JA;Suyenobu B;Jarcho JM;McRoberts JA;Niesler B;Mayer EA
通讯作者：
Mayer EA
DOI：
10.1002/ajmg.b.32007
发表时间：
2012-01-01
影响因子：
2.8
作者：
Carreno, Oriel;Corominas, Roser;Macaya, Alfons
通讯作者：
Macaya, Alfons
影响因子：
29.4
作者：
Camilleri M;Carlson P;Zinsmeister AR;McKinzie S;Busciglio I;Burton D;Zucchelli M;D'Amato M
通讯作者：
D'Amato M
影响因子：
29.4
作者：
Larsson MB;Tillisch K;Craig AD;Engström M;Labus J;Naliboff B;Lundberg P;Ström M;Mayer EA;Walter SA
通讯作者：
Walter SA
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.