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Background  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).    Results  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.    Conclusion  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.

Screening of genetic variants in ADCYAP1R1, MME and 14q21 in a Swedish cluster headache cohort