肝脂肪酶启动子区域单核苷酸多态性与非创伤性股骨头缺血性坏死的相关性研究  

STUDY ON CORRELATION BETWEEN SINGLE NUCLEOTIDE POLYMORPHISM IN PROMOTOR OF HEPATIC LIPASE GENE AND UNTRAUMATIC AVASCULAR NECROSIS OF FEMORAL HEAD

作　　者：刘丙立[1] 孙伟[2] 李子荣[2] 岳德波[2] 张志刚[1] 陈德生[1] 王雪[1] 

机构地区：[1]唐山市第二医院关节外科,河北唐山063000 [2]中日友好医院骨科

出　　处：《中国修复重建外科杂志》2010年第12期1444-1448,共5页Chinese Journal of Reparative and Reconstructive Surgery

摘　　要：目的探讨肝脂肪酶(hepatic lipase,HL)启动子区域单核苷酸多态性(single nucleotide polymorphism,SNP)与非创伤性股骨头缺血性坏死(avascular necrosis of the femoral head,ANFH)的关系。方法选择2007年1月-2009年6月收治的非创伤性ANFH汉族患者243例作为病例组;其中男156例,女87例;年龄16～64岁。激素性143例,酒精性79例,特发性21例。选择与病例组患者年龄、性别及民族相匹配的正常自愿者96例作为对照组。收集所有受试者血液标本2mL进行DNA提取,进行HL启动子区域的DNA测序,找出出现SNP的位点,统计其基因型及等位基因频率,并进行病例-对照关联分析。结果所测区域发现rs59644784、rs1800588SNP位点,该位点在对照组及病例组均符合Hardy-Weinberg遗传平衡,其等位基因频率及基因型在两组间差异无统计学意义(P>0.05)。连锁不平衡分析提示两个位点存在完全连锁不平衡。结论各位点SNP杂合度不一致,且杂合度可能与人种有关。非创伤性ANFH与rs59644784、rs1800588两个SNP位点无相关性。Objective To explore the correlation between the single nucleotide polymorphism （SNP） in the promotor of hepatic lipase （HL） gene and untraumatic avascular necrosis of the femoral head （ANFH）. Methods Between January 2007 and June 2009, 243 patients with ANFH were treated （case group）, including 143 cases of steroid-induced, 79 cases of alchol-induced, and 21 cases of idiopathic. There were 156 males and 87 females with an age ranged from 16 to 64 years. A total of 96 normal individuals （matched for age, sex, and nation） served as control group. The blood sample of all subjects were collected to extract DNA. The promotor of HL was sequenced to find the SNP. A statistic on the frequencies of the genotype and the allele of the SNP was made. The frequencies of the genotype and the allele were analyzed with χ2 test according to case-control principle. Results The rs59644784 and rs1800588 were found in the sequenced region. It was accorded with Hardy-Weinbery genetic equilibrium law in rs59644784 and rs1800588 of the control group and case group. There was no significant difference in the allele and genotype of rs59644784 and rs1800588 between the control group and case group （P 0.05）. The two SNPs existed complete linkage disequilibrium according to the linkage disequilibrium analysis. Conclusion The heterozygosity of the SNP is not consistency, and heterozygosity may be associated with the diversity of the race. ANFH is not associated with rs59644784 and rs1800588 SNPs.

关 键 词：股骨头缺血性坏死 肝脂肪酶 启动子 单核苷酸多态性 

分 类 号：R681.8[医药卫生—骨科学]