CTLA-4 +49A>G polymorphism is associated with the risk but not with the progression of colorectal cancer in Chinese

• Published in: International journal of colorectal disease Vol. 25; no. 1; pp. 39 - 45
• Main Authors: Qi, Peng, Ruan, Can-ping, Wang, Hao, Zhou, Fei-guo, Xu, Xin-yun, Gu, Xing, Zhao, Yun-peng, Dou, Tong-hai, Gao, Chun-fang
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Berlin/Heidelberg : Springer-Verlag 2010; Springer-Verlag; Springer; Springer Nature B.V
• Subjects: Antigens, CD - genetics; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Case-Control Studies; China; Colorectal Neoplasms - genetics; Colorectal Neoplasms - pathology; CTLA-4 Antigen; Disease Progression; Female; Gastroenterology; Gastroenterology. Liver. Pancreas. Abdomen; Gene Frequency - genetics; Genetic Predisposition to Disease; Hepatology; Humans; Internal Medicine; Male; Medical sciences; Medicine; Medicine & Public Health; Middle Aged; Original Article; Polymorphism, Single Nucleotide - genetics; Proctology; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Surgery; Tumors; China; Cytotoxic T-lymphocyte antigen-4; Individual susceptibility; Single-nucleotide polymorphism; Case–control study; Colorectal cancer; Human; Rectal disease; Prognosis; Case-control study; Malignant tumor; Case control study; Colonic disease; Antigen; Colorectal cancer Cytotoxic T-lymphocyte antigen-4; Risk factor; Gastroenterology; Digestive diseases; Intestinal disease; Evolution; Single nucleotide polymorphism; Cytotoxic T lymphocyte; Cancer
• ISSN: 0179-1958; 1432-1262
• DOI: 10.1007/s00384-009-0806-z

Purpose Colorectal cancer (CRC) is one of the most common malignancies in the world and a multipathway disease. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a potent immunoregulatory molecule that suppresses antitumor response by down-regulating T-cell activation. The most studied +49A>G polymorphism of CTLA-4 gene has been associated with several autoimmune or cancer diseases. Our aim was to investigate the association between this genetic variant and the risk as well as progression of colorectal cancer in Chinese. Methods We conducted a case-control study of 124 colorectal cancer cases and 407 healthy controls. DNA was extracted from blood specimens, and +49A>G polymorphism in the CTLA-4 gene was genotyped by polymerase chain reaction-ligation detection reaction (PCR-LDR). Results In our study group, the frequency of AG or GG or carrying at least one G allele at position +49 was significantly different in colorectal cancer patients and the control group, indicating that the risk of CRC was significantly higher among subjects with the AG or GG genotype or carrying at least one G allele at position +49 than among the subjects with the AA genotype. However, we observed no association between CTLA-4 +49A>G polymorphism and the progression of CRC. Interestingly, the CTLA-4 +49A allele was in non-significantly higher numbers in CRC patients with distant metastasis. Conclusions Our results suggested that CTLA-4 +49A>G polymorphism was associated with an increased risk of colorectal cancer, but this polymorphism did not play an important role in the progression of CRC in Chinese.