载脂蛋白AI、B基因多态性与非创伤性股骨头坏死发病的危险性

Relationship between genetic polymorphisms of apolipoprotein AI and B and risk for onset of non-traumatic femoral head necrosis

背景：载脂蛋白Al和载脂蛋白B基因多态性影响载脂蛋白Al、B的异常从而导致血脂代谢紊乱，推测这些基因的多态性可能与股骨头坏死的发生有一定的关系。 目的：分析载脂蛋白Al、B基因多态性与中国北方汉族人群中非创伤性股骨头坏死易感性之间的关系。

BACKGROUND： The genetic polymorphisms of apolipoprotein AI and B can result dyslipidemia, so we speculate that the genetic polymorphisms may be associated with the occurrence of femoral head osteonecrosis. OBJECTIVE： To explore the relationship between the genetic polymorphisms of apolipoprotein AI and B and susceptibility of non-traumatic osteonecrosis of femoral head in Han populations of northern China. METHODS： The hospital-based epidemiology case-control study was performed, and then 143 non-traumatic osteonecrosis of femoral head patients and 92 healthy volunteers were served as the non-traumatic osteonecrosis of femoral head group and control group. We used a multiplex polymerase chain reaction to amplify the apolipoprotein AI promoter region -75 bp and first introns ＋83 bp, as well as the EcoR Ⅰ, Xba Ⅰ, and 3＇-VNTR segments of the apolipoprotein B gene in the non-traumatic osteonecrosis of femoral head patients and healthy people. Restriction enzyme was used to digest the polymerase chain reaction fragments and the agarose gel electrophoresis was used to separate the geetic polymorphism. RESULTS AND CONCLUSION： In the apolipoprotein AI gene promoter -75 bp, the frequency of AA gene in osteonecrosis of femoral head group was significantly higher than that in the control group （P 〈 0.01 ）, but the frequency of GA gene in osteonecrosis of femoral head group was obviously lower than that in the control group （P 〈 0.01 ）. There was no significant differences of the genotype and allele frequency distribution between the osteonecrosis of femoral head group and the control group in the apolipoprotein AI introns ＋83 bp, or the apolipoprotein B gene EcoR ｜ , Xba ｜ and 3＇-VNTR areas. In non-traumatic osteonecrosis of femoral head patients, the AA genotypes had an incidence odds ratio of 2.26 and a 95% confidence interval 0.983 to 5.210. We found that those who carry the AA subtype of the apolipoprotein AI gene promoter region -75 bp are more susceptible to osteonecrosis of femoral head than those carrying the GA and GG subtypes.