title: CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.
abstract: Mycobacterium malmoense is an opportunistic mycobacterium that occasionally causes disease in non-immunosuppressed individuals. As only a few individuals exposed to these organisms actually develop clinical disease, it is possible there is a genetic component to susceptibility. CD1 molecules are capable of presenting antigens from more virulent mycobacteria to T cells; therefore, we were interested in discovering whether recently described polymorphisms in CD1 molecules modulated susceptibility to M. malmoense pulmonary disease. The CD1 system comprises five genes (CD1A, -B, -C, -D, and -E) located on chromosome 1 (1q22-23). CD1 molecules are structurally and functionally related to major histocompatibility complex (MHC) class I molecules and are expressed on dedicated antigen-presenting cells. The primary function of CD1 molecules is to present lipid and glycolipid antigens to T cells. We have developed an allele-specific polymerase chain reaction-sequence-specific primer (PCR-SSP) method of CD1 genotyping. Using this method, we compared the allele and haplotype frequencies of CD1 in 49 HIV-negative patients with M. malmoense pulmonary disease with those in 342 normal controls. The CD1A and CD1E alleles were nominally identified as CD1A*01, CD1A*02, CD1E*01 and CD1E*02, and the control gene frequencies were found to be 5%, 95%, 67% and 33%, respectively. No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.
authors.affiliation: Transplantation Immunology, Oxford Transplant Centre, Churchill Hospital, Oxford OX3 7LJ, UK.
authors.forename: D C
authors.initials: DC
authors.lastname: Jones
authors.forename: C M
authors.initials: CM
authors.lastname: Gelder
authors.forename: T
authors.initials: T
authors.lastname: Ahmad
authors.forename: I A
authors.initials: IA
authors.lastname: Campbell
authors.forename: M C
authors.initials: MC
authors.lastname: Barnardo
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
authors.forename: S E
authors.initials: SE
authors.lastname: Marshall
authors.forename: M
authors.initials: M
authors.lastname: Bunce
mesh_terms: D018949:Antigens, CD1 / Q000235:genetics*; D002460:Cell Line; D005838:Genotype; D006801:Humans; D016867:Immunocompromised Host / Q000235:genetics / Q000276:immunology; D008171:Lung Diseases / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology* / Q000382:microbiology; D009161:Mycobacterium / Q000276:immunology / Q000302:isolation & purification; D009164:Mycobacterium Infections / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology*
chemical_list: D018949:Antigens, CD1