Relationships of TGFβ1 and TGFβR2 gene polymorphisms with colorectal cancer in Chinese Han population in Shandong area / 中华微生物学和免疫学杂志

ABSTRACT

Objective To study the relationships of TGFβ1 (-509C/ T, +869T/ C) and TGFβR2 (-875 G/ A) single nucleotide polymorphisms (SNPs) with colorectal cancer (CRC) in Chinese Han popu-lation in Shandong. Methods TGFβ1 -509C/ T and +869T/ C SNPs in a total of 490 patients with CRC were detected using gene chip. TGFβR2 -875 SNPs was analyzed using PCR-RFLP. TGFβ1 concentrations in serum samples were measured by ELISA. Immunohistochemistry was used to detect the expression of TGFβR2. The relationships of TGFβ1 (-509C/ T, +869T/ C) and TGFβR2 (-875 G/ A) SNPs with CRC were analyzed through a case-control study. Chi-square test or t test was used for statistical analysis. Rela-tive risk was estimated by odds ratio (OR) and 95％ confidence interval (95％ CI). Results No signifi-cant difference in genotype or allele frequency at TGFβ1 -509 / +869 was found between patients with CRC and healthy subjects (P>0. 05). The frequencies of TGFβR2 -875GG genotype and -875G allele in pa-tients with CRC were significantly higher than those in healthy subjects (-875GG χ2 = 4. 65, P = 0. 031, OR=1. 32, 95％ CI=1. 03-1. 71; -875G χ2 =4. 95, P=0. 026, OR=1. 29, 95％ CI=1. 03-1. 61). Com-pare with the healthy control group, higher frequencies of TGFβR2 -875GG genotype and -875G allele were also detected in rectal cancer ( -875GG P = 0. 04, OR = 1. 39, 95％ CI = 1. 02-1. 95 and -875G P =0. 045, OR=1. 32, 95％ CI = 1. 01-1. 73), tubular adenocarcinoma ( -875GG P = 0. 004, OR = 1. 51, 95％ CI=1. 14-2. 00 and -875G P=0. 003, OR=1. 45, 95％ CI=1. 14-1. 85) and highly differentiated tu-bular adenocarcinoma (-875GG P=0. 003, OR=1. 68, 95％ CI=1. 19-2. 38 and -875G P=0. 002, OR=1. 62, 95％ CI=1. 18-2. 21) groups. The serum TGFβ1 levels in TGFβR2 -875G carriers with CRC were significantly higher than those in TGFβR2 -875AA carriers in both CRC (t= -3. 42, P<0. 05) and healthy control (t= -5. 09, P<0. 001) groups. TGFβR2 expression in -875G carriers with rectal cancer was signifi-cantly lower than that in -875AA carriers with rectal cancer (P=0. 047) and healthy subjects (P=0. 027).Conclusion TGFβR2 -875GG might be a potential risk factor for CRC in Chinese Han population in Shandong and TGFβR2 - 875G might be a risk factor for rectal cancer and highly differentiated tubular adenocarcinoma.