CAJ | 학술논문

目的探讨胆固醇酯转移蛋白(CETP)基因和二乙基对硝基磷脂酶(PON1)基因位点与胆囊结石发生及血浆脂质水平的连锁关系。方法采用多聚酶链式反应(PCR)-限制性内切酶酶切技术，对15个胆囊结石家系同胞对基因组DNA的CETP和PON1基因型与胆囊结石发生及血脂进行连锁分析。结果各组有与无胆囊结石的CETP和PON1位点基因型差异无显著性，各组CETP和PON1位点与胆囊结石发生无连锁关系(P值均＞0.05)。CETP位点与血浆总胆汁酸(TBA)(P=0.0009)、甘油三脂(TG)(P=0.0142)、载脂蛋白(Apo)C3(P=0.0120)、ApoE(P=0.0127)、脂蛋白(α)［Lp(α)］(P=0.0111)连锁，其截距分别是45.73、2.39、7600、719.3、69143，斜率分别是-45.73、-2.37、-7600、-646.6。PON1和TBA(P=0.0279)与ApoE (P=0.0177)连锁，其截距分别是27.93、647.7，斜率分别是-27.93、-612.9。结论 CETP与PON1位点与胆囊结石发生无连锁。CETP位点影响血浆TBA、TG、ApoC3、ApoE和Lp(α)水平，PON1仅影响血浆TBA和ApoE水平。两位点均与血浆高密度脂蛋白-胆固醇(HDL-C)ApoA1和ApoA2水平无关。
목적탐토담고순지전이단백(CETP)기인화이을기대초기린지매(PON1)기인위점여담낭결석발생급혈장지질수평적련쇄관계。방법채용다취매련식반응(PCR)-한제성내절매매절기술，대15개담낭결석가계동포대기인조DNA적CETP화PON1기인형여담낭결석발생급혈지진행련쇄분석。결과각조유여무담낭결석적CETP화PON1위점기인형차이무현저성，각조CETP화PON1위점여담낭결석발생무련쇄관계(P치균＞0.05)。CETP위점여혈장총담즙산(TBA)(P=0.0009)、감유삼지(TG)(P=0.0142)、재지단백(Apo)C3(P=0.0120)、ApoE(P=0.0127)、지단백(α)［Lp(α)］(P=0.0111)련쇄，기절거분별시45.73、2.39、7600、719.3、69143，사솔분별시-45.73、-2.37、-7600、-646.6。PON1화TBA(P=0.0279)여ApoE (P=0.0177)련쇄，기절거분별시27.93、647.7，사솔분별시-27.93、-612.9。결론 CETP여PON1위점여담낭결석발생무련쇄。CETP위점영향혈장TBA、TG、ApoC3、ApoE화Lp(α)수평，PON1부영향혈장TBA화ApoE수평。량위점균여혈장고밀도지단백-담고순(HDL-C)ApoA1화ApoA2수평무관。
Objective　To study the linkage of cholesteryl ester transfer protein (CETP) and paraoxonase (PON1) loci with development of gallstone and plasma lipids or apolipoprotein levels. Methods　Genotype and its linkage with the occurrence of gallstone in gallbladder and plasma lipids and apolipoproteins levels were analyzed in family pedigree of gallbladder stone by using polymerase chain reaction (PCR) method and limited DNA-endoribonuclease technique. Results　There was no significant difference in genotype of CETP or PON1 between patients with gallstone in gallbladder and those without gallbladder gallstone (P>0.05). There was no linkage between CETP or PON1 locus and development of gallstone in gallbladder in each group (P>0.05). CETP locus was linked with plasma levels of total bile acids (TBA) (P=0.0009), triglyceride (TG) (P=0.0142), apolipoprotein (Apo) C3 (P=0.0120), Apo E(P=0.0127), Lp(a) (P=0.0111). PON1 locus was also linked to plasma levels of TBA (P=0.0279) and Apo E (P=0.0177). Conclusion　CETP and PON1 loci were not linked to the development of gallstone in gallbladder. CETP locus was closely associated with the plasma levels of TBA, TG, Apo C3, Apo E, Lp(a). PON1 was closely related to that of TBA and ApoE. Both loci of CETP and PON1 had no relevant to the plasma levels of HDL-C, Apo A1 and Apo A2.