• Caroline Ran, Carmen Fourier, Julia M Michalska, Anna Steinberg, Christina Sjöstrand, Elisabet Waldenlind, and Andrea Carmine Belin.
• Department of Neuroscience, Karolinska Institutet, 171 77, Stockholm, Sweden. caroline.ran@ki.se.
• J Headache Pain. 2017 Aug 22; 18 (1): 88.

BackgroundWe 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).ResultsWe 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.ConclusionIn 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.

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