Leboyer M, Philippe A, Bouvard M, Guilloud-Bataille M, Bondoux D, Tabuteau F, Feingold J, Mouren-Simeoni M C, Launay J M
INSERM U155, Faculté Jussieu, Paris, France.
Biol Psychiatry. 1999 Jan 15;45(2):158-63. doi: 10.1016/s0006-3223(97)00532-5.
Whole blood serotonin (5-HT) and C-terminally directed beta-endorphin protein immunoreactivity (C-ter-beta-EP-ir) are known to be elevated in autistic subjects and might be possible markers of genetic liability to autism. This study thus investigates the familial aggregation of 5-HT and of C-ter-beta-EP-ir levels in first degree relatives of autistic probands.
In a sample of 62 autistic subjects and 122 of their first-degree relatives, compared to age and sex-matched controls, we measured 5-HT by radioenzymology and C-ter-beta-EP-ir by radioimmunoassay.
We confirm the previously reported familiality of hyperserotoninemia in autism as mothers (51%), fathers (45%) and siblings (87%) have elevated levels of 5-HT, and we reveal presence of elevated levels of C-ter-beta-EP-ir in mothers (53%) of autistic subjects.
Familial aggregation of quantitative variables, such as concentration of neurotransmitters, within unaffected relative could serve as an intermediate phenotype and might thus help the search of genetic susceptibility factors in autism.
已知自闭症患者全血中血清素（5-羟色胺，5-HT）和C末端定向β-内啡肽蛋白免疫反应性（C-ter-β-EP-ir）升高，可能是自闭症遗传易感性的潜在标志物。因此，本研究调查了自闭症先证者一级亲属中5-HT和C-ter-β-EP-ir水平的家族聚集情况。
在一个包含62名自闭症患者及其122名一级亲属的样本中，与年龄和性别匹配的对照组相比，我们采用放射酶法测定5-HT，采用放射免疫分析法测定C-ter-β-EP-ir。
我们证实了先前报道的自闭症患者血清素血症的家族性，因为母亲（51%）、父亲（45%）和兄弟姐妹（87%）的5-HT水平升高，并且我们发现自闭症患者母亲（53%）中C-ter-β-EP-ir水平升高。
在未受影响的亲属中，诸如神经递质浓度等定量变量的家族聚集可能作为一种中间表型，从而有助于寻找自闭症的遗传易感性因素。
