The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity : an analytical evaluation

We have found a novel polymorphic (Ala43Thr; ACC-->GCC) bcl-2 allele in a Japanese population. An in vitro expression study with a mouse IL-7-dependent pre-B cell line has revealed that inhibition of the programmed cell death function of 43Thr bcl-2 protein is suppressed compared with that of nor...

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Bibliographic Details
Published in:Human genetics 1998-10, Vol.103 (4), p.435-440
Main Authors: KOMAKI, S, KOHNO, M, MATSUURA, N, SHIMADZU, M, ADACHI, N, HOSHIDE, R, NISHIYAMA, S, MATSUDA, I
Format: Article
Language:English
Subjects:
Allergic diseases
Animals
Apoptosis
Autoimmune Diseases - genetics
Biological and medical sciences
Cell Line
Child
Female
Genes, bcl-2 - physiology
Humans
Immunopathology
Interleukin-7 - pharmacology
Male
Medical sciences
Mice
Middle Aged
Other localizations
Polymorphism, Genetic
Threonine
Transfection
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Summary:We have found a novel polymorphic (Ala43Thr; ACC-->GCC) bcl-2 allele in a Japanese population. An in vitro expression study with a mouse IL-7-dependent pre-B cell line has revealed that inhibition of the programmed cell death function of 43Thr bcl-2 protein is suppressed compared with that of normal 43Ala bcl-2 protein. Since bcl-2 expression in B-lymphoid cells elicits autoimmune disease in mice, we have investigated the possibility of whether a bcl-2 polymorphism has a different susceptibility to autoimmune disease. To evaluate the clinical impact of this polymorphism, the frequency of bcl-2 polymorphism was investigated in 221 children with insulin-dependent diabetes mellitus (IDDM), 237 adults with autoimmune disease (105 with rheumatoid arthritis, 57 with systemic lupus erythematosus, 55 with Sjögren's syndrome, and 20 others), and 290 healthy Japanese children and adults. The frequency of the 43Thr bcl-2 allele, either homozygous or heterozygous, was 14.5% in normal controls, 6.8% (P
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050847