Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black, mixed-ancestry and Caucasian subjects.
J Autoimmun
; 9(2): 175-80, 1996 Apr.
Article
en En
| MEDLINE
| ID: mdl-8738961
We have sought associations with the muscle acetylcholine receptor alpha-subunit gene (CHRNA1) in autoimmune myasthenia gravis (MG) patients from three ethnic groups; Caucasians and South Africans of Black and Mixed-Ancestry. We found a significant association with the HB*15 CA repeat allele in unrelated Black myasthenics (n = 18; RR = 2.85; pX2 = 0.04) compared with 52 ethnically matched controls. A family-based association study and linkage analysis in Caucasian simplex and multiplex families supported a positive association at this locus with the longer alleles, including HB*14 to *18. However, no significant cosegregation of the disease with the HB alleles could be demonstrated in affected sib pairs. Our results suggest that the CHRNA1 locus harbours a minor susceptibility gene for developing MG, though we cannot rule out linkage disequilibrium with another major gene locus on chromosome 2.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores Colinérgicos
/
Población Negra
/
Población Blanca
/
Músculos
/
Miastenia Gravis
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
J Autoimmun
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
1996
Tipo del documento:
Article
Pais de publicación:
Reino Unido