Ran Caroline, Fourier Carmen, Michalska Julia M, Steinberg Anna, Sjöstrand Christina, Waldenlind Elisabet, Belin Andrea Carmine
Department of Neuroscience, Karolinska Institutet, 171 77, Stockholm, Sweden.
Department of Clinical Neuroscience, Karolinska University Hospital, Stockholm, Sweden.
J Headache Pain. 2017 Aug 22;18(1):88. doi: 10.1186/s10194-017-0798-y.
We have genotyped a Swedish cluster headache case-control population for three genetic variants representing the most significant markers identified in a recently published genome wide association study on cluster headache. The genetic variants were two common polymorphisms; rs12668955 in ADCYAP1R1 (adenylate cyclase activating polypeptide 1 receptor type 1), rs1006417, an intergenic variant on chromosome 14q21 and one rare mutation, rs147564881, in MME (membrane metalloendopeptidase).
We screened 542 cluster headache patients and 581 controls using TaqMan real-time PCR on a 7500 fast cycler, and pyrosequencing on a PSQ 96 System. Statistical analysis for genotype and allele association showed that neither of the two common variants, rs12668955 and rs1006417 were associated with cluster headache. The MME mutation was investigated with pyrosequencing in patients, of whom all were wild type.
In conclusion rs12668955 and rs1006417 do not impact the risk of developing cluster headache in the Swedish population. Also, rs147564881 does not seem to be enriched within the Swedish cluster headache patient group.
我们对一组瑞典丛集性头痛病例对照人群进行了基因分型，检测了三个基因变异，这些变异代表了最近发表的一项关于丛集性头痛的全基因组关联研究中确定的最显著标记。基因变异包括两个常见多态性：ADCYAP1R1（1型腺苷酸环化酶激活多肽受体）中的rs12668955、14号染色体q21区域的一个基因间变异rs1006417，以及MME（膜金属内肽酶）中的一个罕见突变rs147564881。
我们在7500快速循环仪上使用TaqMan实时PCR以及在PSQ 96系统上进行焦磷酸测序，对542例丛集性头痛患者和581例对照进行了筛查。基因型和等位基因关联的统计分析表明，rs12668955和rs1006417这两个常见变异均与丛集性头痛无关。对患者进行焦磷酸测序研究MME突变，结果显示所有患者均为野生型。
总之，rs12668955和rs1006417不会影响瑞典人群患丛集性头痛的风险。此外，rs147564881在瑞典丛集性头痛患者组中似乎也未富集。
