Abstract

Objective: To investigate the correlation between patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 and transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 gene polymorphisms and the incidence of primary liver cancer in the Han population of China's Northeast region. Methods: A case-control study was used to enroll 521 patients with primary liver cancer as the case group and 164 healthy people as the control group. The case group was divided into groups with and without liver cirrhosis according to etiology. The polymerase chain reaction (PCR) method was used to detect the genetic polymorphisms of PNPLA3 rs738409 and TM6SF2 rs58542926, respectively. Results: Compared with the control group, the frequency distribution of PNPLA3 rs738409 G allele in the case group was significantly different (OR = 1.583, P = 0.001). Further grouping showed that there was no statistically significant difference between the control and hepatitis C-related liver cancer group (P = 0.161), but there were significant differences in other groups (P < 0.05). Compared with the control group, the frequency of TM6SF2 rs58542926 T allele in the case group was significantly higher than that in the control group (OR = 1.759, P = 0.048). After grouping, the frequency of CT/TT genotype in the liver cancer group combined with liver cirrhosis and the T allele frequency in the alcohol-related liver cancer group had statistically significant difference (P = 0.045 and 0.032, respectively) when compared with control group. The patients were divided into CG/GG group and CC group, and CT/TT group and CC group according to whether they carried PNPLA3 rs738409 G allele, and TM6SF2 rs58542926 T allele. Results showed that there were no statistically significant differences in liver enzyme indexes, albumin (ALB), total bilirubin (TBIL), alpha-fetoprotein (AFP) and fasting blood glucose between CG/GG group and CC group, and CT/TT group and CC group. The patients with liver cirrhosis in the case group were divided into≥7 groups and < 7 groups according to the Child-Pugh score. Results showed that there were no statistically significant difference in the Child-Pugh score between PNPLA3 rs738409 CG/GG group and CC group patients and TM6SF2 rs58542926 CT/TT group and CC group patients (P > 0.05). Conclusion: PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphisms are correlated with the occurrence of primary liver cancer in the Han population of China's Northeast region. PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphisms have no effect on indexes' such as liver enzymes, ALB, TBIL, AFP and FBS in primary liver cancer..

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