Study on the relationship of CTLA-4 -318, +49 polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in a Chinese population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 440-443, 2004.
Article
in Chinese
| WPRIM
| ID: wpr-328855
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between Chinese patients with autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and the polymorphisms of cytotoxic T lymphocyte -associated antigen-4 (CTLA-4) gene promoter (-318) and exon 1 (+49).</p><p><b>METHODS</b>The CTLA-4 promoter (-318 T/C) and exon 1 (+49A/G) polymorphisms were genotyped via restriction fragment length polymorphism methods in 62 Chinese AIH patients, 77 Chinese PBC patients and 160 healthy controls.</p><p><b>RESULTS</b>There was no difference in the distribution of CTLA-4 promoter -318 T/C polymorphisms between AIH patients and controls, but the C allele frequency was significantly increased in patients with AIH, compared to controls (P=0.02, OR=2.43). The distribution of CTLA-4 gene exon 1 49 A/G genotypes exhibited significant difference between PBC patients and controls (P=0.006), and the frequency of G allele showed a significant increase in PBC group as compared with controls (P=0.0046, OR=1.8). Although the genotype distribution of the CTLA-4 exon 1-promoter gene displayed no significant difference between AIH and PBC patients and controls, the occurrence of GG-CC was increased in the patients of the two groups (AIH 32.3%, PBC 37.7%; control 22.5%).</p><p><b>CONCLUSION</b>The above findings suggest that the polymorphisms of CTLA-4 gene probably confer susceptibility to AIH and PBC in the Chinese population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Polymorphism, Restriction Fragment Length
/
Antigens, CD
/
China
/
Polymerase Chain Reaction
/
Exons
/
Promoter Regions, Genetic
/
Hepatitis, Autoimmune
/
Genetic Predisposition to Disease
/
Asian People
Limits:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Type:
Article
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