LMP2基因多态性与胰岛素依赖型糖尿病及DR3基因的关系

Relationship of polymorphism of LMP2 gene to Insulin dependent diabetes mellitus and DR3 gene

目的探讨大多功能蛋白酶（ＬＭＰ）２基因多态性与胰岛素依赖型糖尿病（ＩＤＤＭ）及ＤＲ３基因的关系。方法以６８例ＩＤＤＭ患者及７１例正常人（对照组）为研究对象，采用聚合酶链反应限制性片段长度多态性分析技术进行ＬＭＰ２基因分型。根据ＤＲ３基因分型将ＩＤＤＭ患者及对照组分为ＤＲ３阳性组与ＤＲ３阴性组，并分别比较ＬＭＰ２基因频率在ＩＤＤＭ患者与对照组之间的差异。结果ＤＲ３阳性组，ＬＭＰ２Ｒ／Ｈ、ＬＭＰ２Ｒ／Ｒ及ＬＭＰ２Ｈ／Ｈ基因频率在ＩＤＤＭ组分别为４７％、４７％、６％，对照组分别为１３％、８７％、０％；ＬＭＰ２Ｒ／Ｈ基因频率在ＩＤＤＭ组显著高于对照组，ＬＭＰ２Ｒ／Ｒ基因频率显著低于对照组，ＬＭＰ２Ｈ／Ｈ在２组间差异无显著性意义。ＤＲ３阴性组，ＬＭＰ２Ｒ／Ｈ、ＬＭＰ２Ｒ／Ｒ及ＬＭＰ２Ｈ／Ｈ基因频率在ＩＤＤＭ组分别为５８％、３９％、２３％，对照组分别为３２％、５４％、１４％。ＬＭＰ２Ｒ／Ｈ基因频率在ＩＤＤＭ组显著高于对照组；ＬＭＰ２Ｒ／Ｒ及ＬＭＰ２Ｈ／Ｈ基因频率在２组间差异无显著性意义。结论ＬＭＰ２Ｒ／Ｈ基因阳性者患ＩＤＤＭ的危险性增加，它可能是ＩＤＤＭ的易感基因；ＬＭＰ２Ｒ／Ｒ阳性者患Ｉ?

Objective To investigate the relationship of polymorphism of large multifunctional protease (LMP) 2 genes to insulin dependent diabetes mellitus (IDDM) and DR3 gene. Methods The polymorphism of LMP2 genes was identified by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) in 68 IDDM patients and 71 healthy controls. IDDM patients and healthy controls were respectively divided into 2 groups according to DR3 genotyping. One group included subjects with DR3 gene, and another group subjects without DR3 gene. Results In the subjects with DR3 gene, the frequencies of LMP2 R/H, LMP2 R/R, LMP2 H/H were 47%, 47% and 6% in the IDDM patients, 13%, 87%, 0% in the controls. Compared with the Controls, the IDDM patients had a higher frequency of LMP2 R/H ( P <0.05) and a lower frequency of LMP2 R/R ( P <0.05). In the subjects without DR3 gene, the frequencies of LMP2 R/H, LMP2 R/R, LMP2 H/H were 58%, 39%, 2.8% respectively in the IDDM patients, and 32%, 54%, 14% respectively in the controls. Compared with the controls, the IDDM patients had a higher frequency of LMP2 R/H ( P <0.05), the frequency of LMP2 R/R in the IDDM patients did not have a significant difference from that in the controls ( P >0.05). Conclusions There may be a significant association of LMP2 R/H and LMP2 R/R with the susceptibility to IDDM. The LMP2 R/H is a susceptible gene. The people with LMP2 R/H have a higher risk of suffering from IDDM. The LMP2 R/R is a protective gene. The people with LMP2 R/R have a decreased risk of suffering from IDDM. The effects of LMP2 on ID DM are not affected by DR3 gene.