| 徐静辛永宁张丁丁宣世英.中国汉族人群PNPLA3 I148M 多态性影响脂联素水平及非酒精性脂肪性
肝病遗传易感性的相关性研究*[J].,2012,12(13):2451-2456 |
| 中国汉族人群PNPLA3 I148M 多态性影响脂联素水平及非酒精性脂肪性
肝病遗传易感性的相关性研究* |
| Research Based on Effects of PNPLA3 I148M Polymorphisms onAdiponectin Levels and Genetic Susceptibility of Nonalcoholic Fatty LiverDisease in Chinese Han Population* |
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| DOI： |
| 中文关键词: 非酒精性脂肪性肝病；脂联素；PNPLA3 单核苷酸多态性 |
| 英文关键词: NAFLD Adiponectin PNPLA3 SNP |
| 基金项目:国家自然科学基金项目（81170337/H0304） |
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| 中文摘要: |
| 目的：探讨在中国人群中PNPLA3 I148M 基因型、脂联素与非酒精性脂肪性肝病的遗传易感性的相关性，及PNPLA3 基因
型与空腹血清脂联素水平的关系。方法：对96 例NAFLD 患者和76 名正常对照，采用多聚酶链反应（PCR）及直接测序法检测
PNPLA3 基因型。计量资料结果均用均数±标准差（X±S）表示，经方差齐性检验后，行t 检验；性别、基因型及等位基因频率的比
较行X2 检验。结果：中国汉族人群中，存在PNPLA3 基因I148M 多态性, I148M G 等位基因频率分布在NAFLD（64.89%）与正常
对照组（34.87%）、NASH 组（71.70%）与SS 组（56.09%）中比较差异均有统计学意义（P<0.05）。病例对照分析显示：148GG 基因携
带者与148CC 基因携带者相比较，前者发生NAFLD 的比值比（OR）为3.45（95%CI：2.21~5.41，P<0.05），发生NASH 的OR 为
1.98（95%CI=1.08~3.64，P＜0.05 )。PNPLA3 基因rs738409 多态性与血清ALT 水平有关（P<0.05），对NASH 组分层分析，148GG
基因型BMI、ALT、FINS 均高于148CC 基因型（P<0.05），血清HDL 水平低于148CC 基因型和148GC 基因型（P<0.05），这些结果
提示等位基因G 与肝脏炎症和肝脏脂肪增加有相关性. Ordinal Logistic 回归分析显示PNPLA3 I148M 多态性与低浓度血清脂联
素水平相关(< 6μg/ml)（OR=2.78,95%CI=1.765~4.384，P<0.05）。结论：中国汉族人群中，PNPLA3 基因I148M 多态性与NAFLD 的
遗传易感性及脂联素的分泌调节相关，是决定NAFLD 个体遗传易感性的重要因素。 |
| 英文摘要: |
| Objective: To investigate the relationship between PNPLA3 I148M genotype, adiponectin and hereditariness to nonalcoholic
fatty liver disease, and to evaluate the effect of PNPLA3 genotype on fasting levels of adiponectin in China. Methods: Genotypes
of 94 case patients with NAFLD and 76 control subjects were examined by polymerase chain reaction (PCR) and directly sequenced. The
DNA samples were extracted from the peripheral blood of all subjects．Adiponectin by ELISA. All measurement data results were
shown by the mean±the standard deviation (X±S). A T-test was carried out following the homogeneity test of variance. The comparison
of gender, genotype and allele frequency was analyzed by the Chi-square test. Results: The SNP, I148M were indentified with frequencies
of variant alleles 64.89%, 71.70% and 56.09% in patients with NAFLD, NASH and SS and 34.87% in control, respectively. A
case-control analysis revealed a 3.45-fold (95%CI：2.21~5.41) excessed risk of developing NAFLD for 148GG genotype carriers compared
with noncarriers. And 1.98-fold (95%CI=1.08~3.64) excessed risk of SS developing NASH for 148GG genotype compared with
noncarriers. Polymorphism in PNPLA3 rs738409 was associated with the levels of ALT in serum (P<0.05). BMI, ALT, FINS in patients
with148GG genotype were higher than 148CC genotype (P<0.05), but the serum levels of HDL were lower than 148CC genotype and
148GC genotype (P<0.05). At ordinal logistic regression analysis, the PNPLA3 148M variant was associated with low adiponectin levels
(< 6 μg/ml)（OR=2.78, 95%CI=1.765~4.384，P<0.05). Conclusion: The results suggested that the I148M genetic variants in PNPLA3
gene may play an important role in mediating susceptibility to developing NAFLD and the release of adiponectin in Chinese population.
Polymorphism in PNPLA3 gene I148M are related with development of NAFLD, are the significance factors of the susceptibility of
NAFLD. |
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