• 1.鄖陽醫(yī)學(xué)院附屬東風(fēng)醫(yī)院肝膽外科（湖北十堰 442000）;;
  • 2.昆明醫(yī)學(xué)院第二附屬醫(yī)院肝膽外二科（云南昆明 650101）;

目的探討瘦素基因啟動(dòng)子區(qū)-2548 G/A功能多態(tài)性與膽囊膽固醇結(jié)石之間的相關(guān)性。方法采用聚合酶鏈反應(yīng)-限制性片段長度多態(tài)性技術(shù)對(duì)118例膽囊結(jié)石患者和53例正常對(duì)照人群進(jìn)行瘦素基因啟動(dòng)子區(qū)-2548 G/A基因多態(tài)性分析，研究等位基因和基因型分布規(guī)律。結(jié)果瘦素基因啟動(dòng)子區(qū)-2548 G/A多態(tài)性在2組中的分布差異有統(tǒng)計(jì)學(xué)意義，膽囊結(jié)石組中AA+GA基因型頻率明顯高于對(duì)照組(χ2=4.251，P=0.039)，AA+AG基因型患膽囊結(jié)石的風(fēng)險(xiǎn)是GG基因型的2.813倍(OR=2.813，95% CI=1.020~7.757)。等位基因頻率在2組中分布也存在差異，膽囊結(jié)石組A等位基因頻率明顯高于對(duì)照組(χ2=5.791，P=0.016)，A等位基因攜帶者患膽囊結(jié)石的風(fēng)險(xiǎn)是G等位基因攜帶者的1.777倍(OR=1.777，95% CI=1.110~2.844)。結(jié)論瘦素基因啟動(dòng)子區(qū)-2548 G/A功能多態(tài)性與膽囊結(jié)石易感性有關(guān)，A等位基因是膽囊結(jié)石發(fā)病的遺傳易感基因，G等位基因是膽囊結(jié)石的保護(hù)基因。

引用本文： 吳紅偉,王飛,孫少華,沈豐,張小文,周文波. 瘦素基因啟動(dòng)子區(qū)-2548 G/A多態(tài)性與膽囊膽固醇結(jié)石的相關(guān)性分析. 中國普外基礎(chǔ)與臨床雜志, 2011, 18(1): 63-66. doi: 復(fù)制

1. 李哲夫, 陳孝平. 膽固醇膽石成因的研究進(jìn)展 [J]. 中國普通外科雜志, 2007, 16(2): 170172.
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3. 姚有貴, 馬明坤, 蒲道深, 等. 載脂蛋白AⅠCⅢAⅣ基因簇XmnⅠ、MspⅠ位點(diǎn)多態(tài)性與膽固醇結(jié)石病關(guān)系的研究 [J]. 中國普外基礎(chǔ)與臨床雜志, 2007, 14(3): 287291.
4. Zhang Y, Proenca R, Maffei M, et al. Positional cloning of the mouse obese gene and its human homologue [J]. Nature, 2002, 372(6505): 425432.
5. 張紅梅, 陳璐璐. 瘦素與膽結(jié)石 [J]. 臨床肝膽病雜志, 2004, 20(1): 6163.
6. Mammès O, Betoulle D, Aubert R, et al. Novel polymorphisms in the 5′ region of the LEP gene: association with leptin levels and response to lowcalorie diet in human obesity [J]. Diabetes, 1998, 47(3): 487489.
7. Mammès O, Betoulle D, Aubert R, et al. Association of the G-2548A polymorphism in the 5′ region of the LEP gene with overweight [J]. Ann Hum Genet, 2000, 64(Pt 5): 391394.
8. Van der Lende T, Te Pas MF, Veerkamp RF, et al. Leptin gene polymorphisms and their phenotypic associations [J]. Vitam Horm, 2005, 71: 373404.
9. Hoffstedt J, Eriksson P, MottaguiTabar S, et al. A polymorphism in the leptin promoter region (-2548 G/A) influences gene expression and adipose tissue secretion of leptin [J]. Horm Metab Res, 2002, 34(7): 355359.
10. Woods CM, Mawe GM, Shaffer EA, et al. Effects of bioactive agents on biliary motor function [J]. Curr Gastroenterol Rep, 2003, 5(2): 154159.
11. Goldblatt MI, SwartzeBasile DA, Svatek CL, et al. Decreased gallbladder response in leptindeficient obese mice [J]. J Gastrointest Surg, 2002, 6(3): 438442.
12. MéndezSánchez N, González V, KingMartínez AC, et al. Plasma leptin and the cholesterol saturation of bile are correlated in obese women after weight loss [J]. J Nutr, 2002, 132(8): 21952198.
13. Hyogo H, Roy S, Paigen B, et al. Leptin promotes biliary cholesterol elimination during weight loss in ob/ob mice by regulating the enterohepatic circulation of bile salts [J]. J Biol Chem, 2002, 277(37): 3411734124.
14. Tobe K, Suzuki R, Aoyama M, et al. Increased expression of the sterol regulatory elementbinding protein1 gene in insulin receptor substrate 2-/- mouse liver [J]. J Biol Chem, 2001, 276(42): 3833738340.
15. 雷正明, 曾道炳, 陳躍, 等. 瘦素、 膽囊收縮素、 血脂與膽石類型關(guān)系探討 [J]. 中華肝膽外科雜志, 2007, 13(4): 220223.
  1. 1. 李哲夫, 陳孝平. 膽固醇膽石成因的研究進(jìn)展 [J]. 中國普通外科雜志, 2007, 16(2): 170172.
  2. 2. 趙燕, 姚有貴. 膽固醇7α羥化酶基因多態(tài)性與膽固醇結(jié)石病關(guān)系的研究 [J]. 中國普外基礎(chǔ)與臨床雜志, 2010, 17(1): 6063.
  3. 3. 姚有貴, 馬明坤, 蒲道深, 等. 載脂蛋白AⅠCⅢAⅣ基因簇XmnⅠ、MspⅠ位點(diǎn)多態(tài)性與膽固醇結(jié)石病關(guān)系的研究 [J]. 中國普外基礎(chǔ)與臨床雜志, 2007, 14(3): 287291.
  4. 4. Zhang Y, Proenca R, Maffei M, et al. Positional cloning of the mouse obese gene and its human homologue [J]. Nature, 2002, 372(6505): 425432.
  5. 5. 張紅梅, 陳璐璐. 瘦素與膽結(jié)石 [J]. 臨床肝膽病雜志, 2004, 20(1): 6163.
  6. 6. Mammès O, Betoulle D, Aubert R, et al. Novel polymorphisms in the 5′ region of the LEP gene: association with leptin levels and response to lowcalorie diet in human obesity [J]. Diabetes, 1998, 47(3): 487489.
  7. 7. Mammès O, Betoulle D, Aubert R, et al. Association of the G-2548A polymorphism in the 5′ region of the LEP gene with overweight [J]. Ann Hum Genet, 2000, 64(Pt 5): 391394.
  8. 8. Van der Lende T, Te Pas MF, Veerkamp RF, et al. Leptin gene polymorphisms and their phenotypic associations [J]. Vitam Horm, 2005, 71: 373404.
  9. 9. Hoffstedt J, Eriksson P, MottaguiTabar S, et al. A polymorphism in the leptin promoter region (-2548 G/A) influences gene expression and adipose tissue secretion of leptin [J]. Horm Metab Res, 2002, 34(7): 355359.
  10. 10. Woods CM, Mawe GM, Shaffer EA, et al. Effects of bioactive agents on biliary motor function [J]. Curr Gastroenterol Rep, 2003, 5(2): 154159.
  11. 11. Goldblatt MI, SwartzeBasile DA, Svatek CL, et al. Decreased gallbladder response in leptindeficient obese mice [J]. J Gastrointest Surg, 2002, 6(3): 438442.
  12. 12. MéndezSánchez N, González V, KingMartínez AC, et al. Plasma leptin and the cholesterol saturation of bile are correlated in obese women after weight loss [J]. J Nutr, 2002, 132(8): 21952198.
  13. 13. Hyogo H, Roy S, Paigen B, et al. Leptin promotes biliary cholesterol elimination during weight loss in ob/ob mice by regulating the enterohepatic circulation of bile salts [J]. J Biol Chem, 2002, 277(37): 3411734124.
  14. 14. Tobe K, Suzuki R, Aoyama M, et al. Increased expression of the sterol regulatory elementbinding protein1 gene in insulin receptor substrate 2-/- mouse liver [J]. J Biol Chem, 2001, 276(42): 3833738340.
  15. 15. 雷正明, 曾道炳, 陳躍, 等. 瘦素、 膽囊收縮素、 血脂與膽石類型關(guān)系探討 [J]. 中華肝膽外科雜志, 2007, 13(4): 220223.

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