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Title: [Correlation between PNPLA3 rs738409 and TM6SF2 rs58542926 gene polymorphism and primary liver cancer in the Han Population of China's Northeast region].
Author: Bing H, Wang W, Li YL.
Journal: Zhonghua Gan Zang Bing Za Zhi; 2021 Feb 20; 29(2):156-162. PubMed ID: 33685085.
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.. 目的： 探讨中国东北地区汉族人群patatin样磷脂酶域3（PNPLA3）rs738409及跨膜蛋白6超家族2（TM6SF2）rs58542926基因多态性与原发性肝癌发病的相关性。 方法： 采用病例-对照研究，纳入521例原发性肝癌患者作为病例组，164名健康人作为对照组。病例组根据病因学分为有及无肝硬化组。采用聚合酶链反应（PCR）方法分别检测PNPLA3 rs738409及TM6SF2 rs58542926两个位点的基因多态性。对计量资料用t检验、方差分析或U检验，对计数资料用χ(2)检验或Fisher确切概率法。 结果： 病例组与对照组相比，PNPLA3 rs738409 G等位基因频率分布存在明显差异（OR = 1.583，P = 0.001）；进一步分组后显示，除在丙型病毒性肝炎相关性肝癌组中与对照组差异无统计学意义外（P = 0.161），在其他分组中均存在明显差异（P值均< 0.05）。与对照组相比，病例组TM6SF2 rs58542926 T等位基因频率明显高于对照组（OR = 1.759，P = 0.048）。分组后仅合并肝硬化肝癌组CT/TT基因型频率及酒精性相关性肝癌组T等位基因频率与对照组的差异有统计学意义（P值分别为0.045，0.032）。将病例组按照是否携带PNPLA3 rs738409 G等位基因分成CG/GG与CC组；按照是否携带TM6SF2 rs58542926 T等位基因分成CT/TT与CC组，结果显示，CG/GG与CC组及CT/TT与CC组肝脏酶学指标、白蛋白（Alb）、总胆红素（TBil）、甲胎蛋白（AFP）及空腹血糖水平的差异均无统计学意义。将病例组伴有肝硬化的患者根据Child-Pugh评分分为≥7分组与< 7分组，结果显示，PNPLA3 rs738409 CG/GG型与CC型患者的Child-Pugh评分差异及TM6SF2 rs58542926 CT/TT型与CC型患者的Child-Pugh评分差异均无统计学意义（P值均> 0.05)。 结论： PNPLA3 rs738409及TM6SF2 rs58542926基因多态性在中国东北地区汉族人群中与原发性肝癌的发生存在相关性。PNPLA3 rs738409及TM6SF2 rs58542926基因多态性在原发性肝癌中对肝脏酶学、Alb、TBil、AFP及空腹血糖等指标没有影响。.

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