Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss

Am J Otolaryngol. Mar-Apr 2015;36(2):146-52. doi: 10.1016/j.amjoto.2014.10.006. Epub 2014 Oct 8.

Abstract

Objective: The objective of this study was to determine whether there are genetic factors associated with Type II congenital smell loss.

Study design: The expression frequencies of 16 erythrocyte antigens among patients with Type II congenital smell loss were determined and compared to those of a large control group.

Methods: Blood samples were obtained from 99 patients with Type II congenital smell loss. Presence of the erythrocyte surface antigens A, B, M, N, S, s, Fy(a), Fy(b), D, C, c, E, e, K, Jk(a), and Jk(b) was analyzed by blood group serology. Comparisons of expression frequencies of these antigens were made between the patients and a large control group.

Results: Patients tested for the Duffy b antigen (Fy(b) haplotype) exhibited a statistically significant 11% decrease in expression frequency compared to the controls. There were no significant differences between patients and controls in the expression frequencies for all other erythrocyte antigens (A, B, M, N, S, s, Fy(a), D, C, c, E, e, K, Jk(a), or Jk(b)).

Conclusions: These findings describe the presence of a previously unrevealed genetic tendency among patients with Type II congenital smell loss related to erythrocyte surface antigen expression. The deviation in expression rate of Duffy b suggests a target gene and chromosome region in which future research into this form of congenital smell loss may reveal a more specific genetic basis for Type II congenital smell loss.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blood Group Antigens / genetics*
  • Case-Control Studies
  • Child
  • Duffy Blood-Group System / genetics*
  • Erythrocyte Membrane / genetics*
  • Erythrocyte Membrane / immunology
  • Female
  • Gene Expression Regulation, Developmental
  • Gene Frequency / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Olfaction Disorders / blood
  • Olfaction Disorders / congenital*
  • Olfaction Disorders / genetics*
  • Reference Values
  • Sensitivity and Specificity
  • Young Adult

Substances

  • Blood Group Antigens
  • Duffy Blood-Group System