中华肝脏病杂志
中華肝髒病雜誌
중화간장병잡지
CHINESE JOURNAL OF HEPATOLOGY
2013年
8期
619-623
,共5页
脂肪肝%基因%基因频率%PNPLA3基因%单核苷酸多态性
脂肪肝%基因%基因頻率%PNPLA3基因%單覈苷痠多態性
지방간%기인%기인빈솔%PNPLA3기인%단핵감산다태성
Fatty liver%Genes%Gene frequency%Patatin-like phospholipase domain-containing protein 3PNPLA3%Singlenucleotidepolymorphism
目的 探讨PNPLA3基因rs738409多态性(编码I148M)与非酒精性脂肪性肝病(NAFLD)遗传易感性的相关性. 方法 对315例NAFLD患者和336名健康体检正常者(对照组),采用多聚酶链反应及基因型检测方法对研究对象进行PNPLA3基因rs738409多态性基因型分析.计量资料经方差齐性检验之后,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 (1) rs738409基因多态性,经检测得出148CC,148GC,148GG 3种基因型.(2) 148GG基因型频率分布在NAFLD组为45.1％,对照组为12.5％,两组比较,x2=85.110,P＜0.05.PNPLA3 rs738409 G等位基因频率分布,在NAFLD组是65.4％,对照组是33.2％;非酒精性脂肪性肝炎(NASH)组为71.9％,非酒精性单纯性脂肪肝组为56.5％,两组比较,x2值为135.041和16.210,P＜0.05,差异均有统计学意义.(3)多变量非条件logistic回归分析显示:148GG基因型频率高于对照组,148CC基因型频率低于对照组,携带rs738409 G等位基因的个体患NAFLD的风险是携带rs738409C等位基因个体的3.81倍(OR=3.81,95％CI=3.03 ～ 4.79,P＜ 0.05),携带rs738409 G等位基因的单纯脂肪肝个体发生NASH的风险为1.97倍(OR=1.97,95％ CI=1.41 ～ 2.75,P＜0.05).(4)NASH组中,148GG基因型体质量指数(BMI)为27.4±2.9、ALT为(131.7±40.6) U/L、空腹胰岛素为(9.1±2.6)μU/ml;148CC基因型BMI为27.4±2.9、ALT为(79.6±47.6)U/L、空腹胰岛素为(7.0±1.6)μU/ml,两组比较,F值分别为0.055,3.754和0.626,P值均＜0.05.148GC基因型BMI为28.0±3.2,ALT为(121.0±16.6)U/L,148CC基因型BMI为22.1±2.8,ALT为(9.6±47.6) U/L,两组比较,F值为0.067和4.278,P值均＜0.05.高密度脂蛋白148GG基因型为(1.2±0.6)mmol/L,148GC基因型为(1.9±1.0) mmol/L,148CC基因型为(2.2±0.9) mmol/L,148GG基因型与148GC基因型和148CC基因型相比,F值为0.641和2.148,P值均＜0.05.结论 在汉族人群中,PNPLA3 rs738409多态性与NAFLD的发生相关,是决定NAFLD个体遗传易感性的重要因素.
目的 探討PNPLA3基因rs738409多態性(編碼I148M)與非酒精性脂肪性肝病(NAFLD)遺傳易感性的相關性. 方法 對315例NAFLD患者和336名健康體檢正常者(對照組),採用多聚酶鏈反應及基因型檢測方法對研究對象進行PNPLA3基因rs738409多態性基因型分析.計量資料經方差齊性檢驗之後,行t檢驗；性彆、基因型及等位基因頻率的比較行x2檢驗.結果 (1) rs738409基因多態性,經檢測得齣148CC,148GC,148GG 3種基因型.(2) 148GG基因型頻率分佈在NAFLD組為45.1％,對照組為12.5％,兩組比較,x2=85.110,P＜0.05.PNPLA3 rs738409 G等位基因頻率分佈,在NAFLD組是65.4％,對照組是33.2％;非酒精性脂肪性肝炎(NASH)組為71.9％,非酒精性單純性脂肪肝組為56.5％,兩組比較,x2值為135.041和16.210,P＜0.05,差異均有統計學意義.(3)多變量非條件logistic迴歸分析顯示:148GG基因型頻率高于對照組,148CC基因型頻率低于對照組,攜帶rs738409 G等位基因的箇體患NAFLD的風險是攜帶rs738409C等位基因箇體的3.81倍(OR=3.81,95％CI=3.03 ～ 4.79,P＜ 0.05),攜帶rs738409 G等位基因的單純脂肪肝箇體髮生NASH的風險為1.97倍(OR=1.97,95％ CI=1.41 ～ 2.75,P＜0.05).(4)NASH組中,148GG基因型體質量指數(BMI)為27.4±2.9、ALT為(131.7±40.6) U/L、空腹胰島素為(9.1±2.6)μU/ml;148CC基因型BMI為27.4±2.9、ALT為(79.6±47.6)U/L、空腹胰島素為(7.0±1.6)μU/ml,兩組比較,F值分彆為0.055,3.754和0.626,P值均＜0.05.148GC基因型BMI為28.0±3.2,ALT為(121.0±16.6)U/L,148CC基因型BMI為22.1±2.8,ALT為(9.6±47.6) U/L,兩組比較,F值為0.067和4.278,P值均＜0.05.高密度脂蛋白148GG基因型為(1.2±0.6)mmol/L,148GC基因型為(1.9±1.0) mmol/L,148CC基因型為(2.2±0.9) mmol/L,148GG基因型與148GC基因型和148CC基因型相比,F值為0.641和2.148,P值均＜0.05.結論 在漢族人群中,PNPLA3 rs738409多態性與NAFLD的髮生相關,是決定NAFLD箇體遺傳易感性的重要因素.
목적 탐토PNPLA3기인rs738409다태성(편마I148M)여비주정성지방성간병(NAFLD)유전역감성적상관성. 방법 대315례NAFLD환자화336명건강체검정상자(대조조),채용다취매련반응급기인형검측방법대연구대상진행PNPLA3기인rs738409다태성기인형분석.계량자료경방차제성검험지후,행t검험；성별、기인형급등위기인빈솔적비교행x2검험.결과 (1) rs738409기인다태성,경검측득출148CC,148GC,148GG 3충기인형.(2) 148GG기인형빈솔분포재NAFLD조위45.1％,대조조위12.5％,량조비교,x2=85.110,P＜0.05.PNPLA3 rs738409 G등위기인빈솔분포,재NAFLD조시65.4％,대조조시33.2％;비주정성지방성간염(NASH)조위71.9％,비주정성단순성지방간조위56.5％,량조비교,x2치위135.041화16.210,P＜0.05,차이균유통계학의의.(3)다변량비조건logistic회귀분석현시:148GG기인형빈솔고우대조조,148CC기인형빈솔저우대조조,휴대rs738409 G등위기인적개체환NAFLD적풍험시휴대rs738409C등위기인개체적3.81배(OR=3.81,95％CI=3.03 ～ 4.79,P＜ 0.05),휴대rs738409 G등위기인적단순지방간개체발생NASH적풍험위1.97배(OR=1.97,95％ CI=1.41 ～ 2.75,P＜0.05).(4)NASH조중,148GG기인형체질량지수(BMI)위27.4±2.9、ALT위(131.7±40.6) U/L、공복이도소위(9.1±2.6)μU/ml;148CC기인형BMI위27.4±2.9、ALT위(79.6±47.6)U/L、공복이도소위(7.0±1.6)μU/ml,량조비교,F치분별위0.055,3.754화0.626,P치균＜0.05.148GC기인형BMI위28.0±3.2,ALT위(121.0±16.6)U/L,148CC기인형BMI위22.1±2.8,ALT위(9.6±47.6) U/L,량조비교,F치위0.067화4.278,P치균＜0.05.고밀도지단백148GG기인형위(1.2±0.6)mmol/L,148GC기인형위(1.9±1.0) mmol/L,148CC기인형위(2.2±0.9) mmol/L,148GG기인형여148GC기인형화148CC기인형상비,F치위0.641화2.148,P치균＜0.05.결론 재한족인군중,PNPLA3 rs738409다태성여NAFLD적발생상관,시결정NAFLD개체유전역감성적중요인소.
Objective To study the relationship between the patatin-like phospholipase domaincontaining protein 3 (PNPLA3) gene and hereditary susceptibility to non-alcoholic fatty liver disease (NAFLD) by detecting single nucleotide polymorphisms (SNPs).Methods Peripheral blood DNA from 315 patients diagnosed with NAFLD (including the spectrum of simple steatosis (SS) and non-alcoholic steatosis (NASH)) and 336 control subjects was used to determine the PNPLA3 genotype by polymerase chain reaction (PCR) and direct sequencing.The relationship of SNPs and NAFLD-related markers of liver function were assessed by correlation analysis.Results The SNP rs738409 was identified in more of the NAFLD patients (allele variant frequencies:NAFLD,65.40％; NASH:71.87％; SS,56.47％) than in the controls (33.18％).Case-control analysis revealed that carriers of the 148GG genotype were at 3.81-fold (95％ CI:3.03 ～ 4.79) higher risk of developing NAFLD and at 1.97-fold (95％ CI:1.41 ～ 2.75) higher risk of progressing from SS to NASH,compared with non-carriers.rs738409 was also found to be associated with serum levels of alanine aminotransferase (ALT) and y-glutamyltransferase (y-GT) (both P ＜ 0.05).Carriers of the 148GG genotype had significantly higher body mass index,ALT,and fasting insulin than carriers of the 148CC genotype (all P ＜ 0.05),and significantly higher level of serum HDL than carriers of either the 148CC genotype or the 148GC genotype (both P ＜ 0.05).Conclusion Polymorphisms in the PNPLA3 gene may play an important role in mediating susceptibility to developing NAFLD in the Chinese population.The rs738409 polymorphism,in particular,is related to development and progression of NAFLD and may play a role in the contribution of PNPLA3 to NAFLD pathogenesis.
