In total, 2409 (89%) of FM patients and 29,170 (91%) control patients had diplotypes in combination of the three major COMT haplotypes: LPS/LPS, LPS/APS, APS/APS, LPS/HPS, APS/HPS, and HPS/HPS (Additional file 2: Figure S1). The gene discussed is COMT; the disease is Hermansky-Pudlak syndrome.