Nyholt D R, Curtain R P, Gaffney P T, Brimage P, Goadsby P J, Griffiths L R
School of Health Sciences, NHS, Griffith University, Gold Coast, Queensland, Australia.
Cephalalgia. 1996 Nov;16(7):463-7. doi: 10.1046/j.1468-2982.1996.1607463.x.
5-Hydroxytryptamine (5HT), commonly known as serotonin, which predominantly serves as an inhibitory neurotransmitter in the brain, has long been implicated in migraine pathophysiology. This study tested an MspI polymorphism in the human 5HT2A receptor gene (HTR2A) and a closely linked microsatellite marker (D13S126), for linkage and association with common migraine. In the association analyses, no significant differences were found between the migraine and control populations for both the MspI polymorphism and the D13S126 microsatellite marker. The linkage studies involving three families comprising 36 affected members were analysed using both parametric (FASTLINK) and non-parametric (MFLINK and APM) techniques. Significant close linkage was indicated between the MspI polymorphism and the D13S126 microsatellite marker at a recombination fraction (theta) of zero (lod score = 7.15). Linkage results for the MspI polymorphism were not very informative in the three families, producing maximum and minimum lod scores of only 0.35 and -0.39 at recombination fractions (theta) of 0.2 and 0.00, respectively. However, linkage analysis between the D13S126 marker and migraine indicated significant non-linkage (lod < -2) up to a recombination fraction (theta) of 0.028. Results from this study exclude the HTR2A gene, which has been localized to chromosome 13q14-q21, for involvement with common migraine.
5-羟色胺（5HT），通常称为血清素，在大脑中主要作为一种抑制性神经递质，长期以来一直被认为与偏头痛的病理生理学有关。本研究检测了人类5HT2A受体基因（HTR2A）中的MspI多态性以及一个紧密连锁的微卫星标记（D13S126），以确定其与常见偏头痛的连锁关系和关联性。在关联性分析中，偏头痛组和对照组在MspI多态性和D13S126微卫星标记方面均未发现显著差异。对包含36名患病成员的三个家庭进行的连锁研究，使用参数法（FASTLINK）和非参数法（MFLINK和APM）技术进行了分析。在重组率（θ）为零（对数优势分数=7.15）时，MspI多态性与D13S126微卫星标记之间显示出显著的紧密连锁。在这三个家庭中，MspI多态性的连锁结果信息量不大，在重组率（θ）分别为0.2和0.00时，最大和最小对数优势分数仅为0.35和-0.39。然而，D13S126标记与偏头痛之间的连锁分析表明，在重组率（θ）达到0.028之前，存在显著的非连锁关系（对数优势分数＜-2）。本研究结果排除了定位于染色体13q14-q21的HTR2A基因与常见偏头痛有关。
