TGF-β1 polymorphisms and familial aggregation of liver cancer in Guangxi, China

Abstract

ABSTRACT. The goal of present study was to investigate the relationship between polymorphisms of TGF-β1 and familial aggregation of liver cancer in Guangxi Zhuang, Han, and Yao populations. We conducted a population-based case-control family study of liver cancer in Guanxi, China. A total of 214 individuals from 37 case families were surveyed for polymorphisms in TGF-β1. We genotyped six functional TGF-β1 polymorphisms: rs1800469, rs2241715, rs2241716, rs11466345, rs8105161, and rs747857. Levels of TGF-β1, hepatitis B surface antigen, and anti-hepatitis C virus in all serum samples were detected using the enzyme-linked immunoassay method, and presence of hepatitis B virus (HBV) DNA was determined using polymerase chain reaction amplification. A standardized questionnaire was used to collect information from subjects, including alcohol consumption, smoking, eating, and water drinking habits. The results were compared with those from 214 control individuals. The results showed that the TGF-β1 genotypes rs1800469, rs2241715, rs2241715, and rs8105161 were more frequent in patients than in controls. The risk factors for familial aggregation of liver cancer in Guangxi were determined, from high to low, to be: drinking sugared beverages > alcohol consumption > HBV DNA-positive > rs1800469 TT homozygous genotype > rs2241715 TT homozygous genotype. The results suggested that TGF-β1 rs1800469 TT and rs2241715 TT homozygote genotypes represent the genetic factors underlying familial clustering of liver cancer in Guangxi, and that drinking water use, alcohol consumption, and testing positive for HBV DNA are the main environmental factors contributing to familial aggregation of liver cancer in Guangxi.

Family Aggregation of Human T-Lymphotropic Virus 1-Associated Diseases: A Systematic Review

“…Finally, as the incubation time of HTLV-1-associated diseases can be very long and there are no markers that predict disease occurrence, robust studies will require large sample sizes, long follow-up periods or both. Such large population-based family studies have been done for other diseases such as multiple sclerosis in Sweden, systemic lupus erythematosus in Taiwan and liver cancer in China, but not yet for HTLV-1 (Hemminki et al, 2009; Kuo et al, 2015; Wan et al, 2015). …”

“…However, it is also possible that members of the same family share viral, genetic or environmental factors that increase the risk of associated diseases. Family aggregation studies have proven to be a useful component of the research into diseases such as multiple sclerosis (Gourraud et al, 2011), autoimmune diseases (Cárdenas-Roldán et al, 2013), and cancer (Kiciński et al, 2011; Wan et al, 2015). Evidence from such studies can give new insights in disease mechanisms and improve the quality of diagnosis and counseling.…”

Association between transforming growth factor-β1 -509 C>T variants and hepatocellular carcinoma susceptibility: a meta-analysis

“…Some studies have also described TGF-β1 gene variants in codons 10 and 25 of exon 1 and at the promoter region positions -800 and -509 [11,12]. Among these variants, TGF-β1 -509 C>T variants (rs1800469) have been most frequently examined as a possible genetic factor contributing to HCC susceptibility [13][14][15][16][17][18][19][20][21]. However, these studies have yielded conflicting results.…”

Enhanced circulating transforming growth factor beta 1 is causally associated with an increased risk of hepatocellular carcinoma: a mendelian randomization meta-analysis

“…Using the predefined inclusion criteria, 10 out of 86 retrieved articles were qualified for analysis [7, 16, 17, 19–25] and the selection process is schematized in Figure 1. As two articles from within included sub-studies according to the co-infection of hepatitis B and C viruses [16, 17], a total of 12 studies were qualified for the association of TGFB1 gene C-509T polymorphism with hepatocellular carcinoma, involving 2809 patients with hepatocellular carcinoma and 4802 cancer-free controls.…”

“…The basic characteristics of the 12 qualified studies are shown in Table 1. As for the association of C-509T polymorphism with circulating TGF-β1, there were 4 articles [7, 16, 17, 25] involving 10 independent comparisons and 1986 study subjects. The distributions of circulating TGF-β1 across C-509T genotypes are summarized in Table 2.…”