title: A genetic marker of the ACKR1 gene is present in patients with Type II congenital smell loss who have type I hyposmia and hypogeusia.
abstract: OBJECTIVE
  Our previous study of Type II congenital smell loss patients revealed a statistically significant lower prevalence of an FY (ACKR1, formerly DARC) haplotype compared to controls. The present study correlates this genetic feature with subgroups of patients defined by specific smell and taste functions.
  
  
  METHODS
  Smell and taste function measurements were performed by use of olfactometry and gustometry to define degree of abnormality of smell and taste function. Smell loss was classified as anosmia or hyposmia (types I, II or III). Taste loss was similarly classified as ageusia or hypogeusia (types I, II or III). Based upon these results patient erythrocyte antigen expression frequencies were categorized by smell and taste loss with results compared between patients within the Type II group and published controls.
  
  
  RESULTS
  Comparison of antigen expression frequencies revealed a statistically significant decrease in incidence of an Fybhaplotype only among patients with type I hyposmia and any form of taste loss (hypogeusia). In all other patient groups erythrocyte antigens were expressed at normal frequencies.
  
  
  CONCLUSIONS
  Data suggest that Type II congenital smell loss patients who exhibit both type I hyposmia and hypogeusia are genetically distinct from all other patients with Type II congenital smell loss. This distinction is based on decreased Fybexpression which correlated with abnormalities in two sensory modalities (hyposmia type I and hypogeusia). Only patients with these two specific sensory abnormalities expressed the Fybantigen (encoded by the ACKR1 gene on the long arm of chromosome 1) at frequencies different from controls.
authors.affiliation: Center for Molecular Nutrition and Sensory Disorders, The Taste and Smell Clinic, 5125 MacArthur Blvd, NW, #20, Washington, DC, United States. Electronic address: wstateman@gmail.com.
authors.forename: William A
authors.initials: WA
authors.lastname: Stateman
authors.affiliation: Center for Molecular Nutrition and Sensory Disorders, The Taste and Smell Clinic, 5125 MacArthur Blvd, NW, #20, Washington, DC, United States. Electronic address: abknoppel@gmail.com.
authors.forename: Alexandra B
authors.initials: AB
authors.lastname: Knöppel
authors.affiliation: NIH Clinical Center, Department of Transfusion Medicine, 10 Center Drive-MSC 1184, Building 10, Room 1C711, Bethesda, MD, United States. Electronic address: flegelwa@cc.nih.gov.
authors.forename: Willy A
authors.initials: WA
authors.lastname: Flegel
authors.affiliation: Center for Molecular Nutrition and Sensory Disorders, The Taste and Smell Clinic, 5125 MacArthur Blvd, NW, #20, Washington, DC, United States. Electronic address: doc@tasteandsmell.com.
authors.forename: Robert I
authors.initials: RI
authors.lastname: Henkin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D004375:Duffy Blood-Group System / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D013651:Taste Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: C473745:ACKR1 protein, human; D004375:Duffy Blood-Group System; D005819:Genetic Markers; D011956:Receptors, Cell Surface