Independent and joint correlation of PNPLA3 I148M and TM6SF2 E167K variants with the risk of coronary heart disease in patients with non-alcoholic fatty liver disease
Independent and joint correlation of PNPLA3 I148M and TM6SF2 E167K variants with the risk of coronary heart disease in patients with non-alcoholic fatty liver disease
复制标题
PNPLA3 I148M 和 TM6SF2 E167K 变异与非酒精性脂肪肝患者冠心病风险的独立相关性和联合相关性
DOI：
10.1186/s12944-020-01207-9
复制
发表时间：
2020-02
影响因子：
4.5
通讯作者：
Xuan Shiying
中科院分区：
文献类型：
--
作者：
Wu Jianting;Liu Shousheng;Xie Xiangjun;Liu Qun;Xin Yongning;Xuan Shiying
背景
据报道，冠心病是NAFLD患者的主要死亡原因。遗传易感基因与NAFLD或CHD的发展风险有关。遗传因素是否会影响NAFLD患者的冠心病风险尚不清楚。本研究旨在探讨中国汉族人群中PNPLA3I148M和TM6SF2 E167K突变与非酒精性脂肪肝患者冠心病风险的关系。
患者和方法
采用基因测序法对189例NAFLD和CHD患者、242例NAFLD患者和242例健康对照的PNPLA3 I148M和TM6SF2 E167K突变进行了基因分型。此外，用标准的临床实验室方法测定血脂谱。
结果
PNPLA3 I148M和TM6SF2 E167K的等位基因频率分别为0.39和0.06。NAFLD组与对照组、NAFLD+CHD组与NAFLD组比较，PNPLA3I148M基因型和等位基因分布差异均有统计学意义(均P<0.05)。携带CG+GG基因携带者的NAFLD患者发生冠心病的风险相对低于携带CC基因携带者(OR=0.6，95%CI：0.40~0.90，P=0.01)。此外，PNPLA3 I148M和TM6SF2 E167K与NAFLD患者CHD风险降低具有联合相关性，且风险等位基因数量增加。此外，PNPLA3 I148M和TM6SF2 E167K变异与整个系列中血脂水平的降低有关。
结论
PNPLA3 I148M和TM6SF2 E167K变异与NAFLD患者发生冠心病的风险存在联合保护关系。PNPLA3 I148M和TM6SF2 E167K变异可能通过降低血脂水平与NAFLD患者冠心病风险降低相关。
Background
CHD is reported to be the primary cause of death in patients with NAFLD. Genetic susceptibility genes contribute to the developmental risk of NAFLD or CHD. Whether the genetic factors could affect the risk of CHD in NAFLD patients is not clear. The aim of this study was to investigate the association of PNPLA3 I148M and TM6SF2 E167K variants with the risk of CHD in NAFLD patients in Chinese Han population.
Patients and methods
PNPLA3 I148M and TM6SF2 E167K variants were genotyped in a cohort of 189 patients with NAFLD and CHD, as well as 242 patients with NAFLD and 242 healthy controls by gene sequencing. Additionally, serum lipids profiles were determined by standard clinical laboratory methods.
Results
The minor allele frequency of PNPLA3 I148M and TM6SF2 E167K were 0.39 and 0.06 in this cohort, respectively. The distributions of PNPLA3 I148M genotypes and alleles were significant different in NAFLD group vs controls and in NAFLD+CHD group vs NAFLD group (all P 0.05). NAFLD patients who carry the CG + GG genotype suffered the relative lower risk of CHD than CC genotype carriers (OR = 0.6, 95%CI: 0.40–0.90, P = 0.01). In addition, PNPLA3 I148M and TM6SF2 E167K possess the joint correlation with the decreased risk of CHD in NAFLD patients with the increased number of risk alleles. Besides, PNPLA3 I148M and TM6SF2 E167K variants associated with the decreased serum lipid levels in overall series.
Conclusions
There was a joint protective correlation of PNPLA3 I148M and TM6SF2 E167K variants with the developmental risk of CHD in NAFLD patients. PNPLA3 I148M and TM6SF2 E167K variants might correlated with the decreased risk of CHD in NAFLD patients by associated with the reduced serum lipid levels.
登录
查看更多内容
影响因子：
5.3
作者：
通讯作者：
--
影响因子：
5.1
作者：
Brouwers, Martijn C. G. J.;Simons, Nynke;Isaacs, Aaron
通讯作者：
Isaacs, Aaron
中国酒精性和非酒精性脂肪肝流行病学
影响因子：
4.1
作者：
Fan, Jian-Gao
通讯作者：
Fan, Jian-Gao
影响因子：
25.7
作者：
Zhou, You;Llaurado, Gemma;Yki-Jarvinen, Hannele
通讯作者：
Yki-Jarvinen, Hannele
影响因子：
5.1
作者：
Rüschenbaum S;Schwarzkopf K;Friedrich-Rust M;Seeger F;Schoelzel F;Martinez Y;Zeuzem S;Bojunga J;Lange CM
通讯作者：
Lange CM