Szilagyi Agnes, Boor Krisztina, Orosz Iren, Szantai Eszter, Szekely Anna, Kalasz Huba, Sasvari-Szekely Maria, Farkas Viktor
Institute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.
Headache. 2006 Mar;46(3):478-85. doi: 10.1111/j.1526-4610.2006.00379.x.
The serotonin transporter gene is a promising candidate locus for the genetic susceptibility of migraine.
Two functional polymorphisms of the serotonin transporter gene (5-HTTLPR and STin2) were analyzed to assess whether these variants are associated with pediatric migraine.
Eighty-seven Hungarian pediatric migraine patients and 464 controls were genotyped using polymerase chain reaction. Patients suffering from migraine with (n = 38) or without aura (n = 49) were interviewed regarding the clinical symptoms before or during the attacks.
There was no difference between genotype or allele distribution of 5-HTTLPR and STin2 polymorphisms in the entire group of migraineurs and controls. Analysis of subgroups showed an association between STin2 and migraine with aura, as the 12,12 homozygote genotype was overrepresented in this group of patients. Furthermore, similar allele and genotype patterns were found in cases with severe vomiting and abdominal pain.
These results confirm and extend the association between the STin2 polymorphism of 5-HTT gene and migraine with aura using pediatric probands. Our data also suggest a novel endophenotype for pediatric migraine characterized by excessive vomiting and abdominal pain during the attack.
血清素转运体基因是偏头痛遗传易感性的一个有前景的候选基因座。
分析血清素转运体基因的两个功能多态性（5-HTTLPR和STin2），以评估这些变异是否与儿童偏头痛相关。
采用聚合酶链反应对87例匈牙利儿童偏头痛患者和464例对照进行基因分型。对有先兆（n = 38）或无先兆（n = 49）的偏头痛患者在发作前或发作期间的临床症状进行访谈。
在整个偏头痛患者组和对照组中，5-HTTLPR和STin2多态性的基因型或等位基因分布没有差异。亚组分析显示STin2与有先兆偏头痛之间存在关联，因为12,12纯合子基因型在该组患者中占比过高。此外，在伴有严重呕吐和腹痛的病例中发现了相似的等位基因和基因型模式。
这些结果证实并扩展了使用儿童先证者得出的5-HTT基因STin2多态性与有先兆偏头痛之间的关联。我们的数据还提示了一种儿童偏头痛的新的内表型，其特征为发作期间过度呕吐和腹痛。
