人类白细胞相关抗原 HLA DQB_1 基因与 IDDM 的关联  

ASSOCIATION BETWEEN HLA DQB 1 GENOTYPE AND INSULIN DEPENDENT DIABETES MELLITUS

作　　者：萧建中[1] 杨文英[1] 刘娟[1] 李光伟[1] 潘孝仁[1] 

机构地区：[1]北京中日友好医院

出　　处：《中华内分泌代谢杂志》1997年第1期7-10,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金

摘　　要：利用ＰＣＲ／ＳＳＯ方法对ＩＤＤＭ病人、ＬＡＤＡ病人、ＮＩＤＤＭ病人以及健康对照者进行ＨＬＡＤＱＢ１基因分型。结果发现ＤＱＢ１０２０１及ＤＱＢ１０３０２在ＬＡＤＡ组显著增高，分别为５３．４％、６６．７％比正常组的１９．５％和３４．２％（Ｐ＜０．０５）。与正常组相比，ＤＱＢ１０３０２在ＩＤＤＭ组显著增高，为９１．１％比３４．２％（Ｐ＜０．００５）。与正常组相比，ＤＱＢ１０３０３、ＤＱＢ１０４０２在ＩＤＤＭ组显著减少，为６．６％和１１．１％比３６．５％（Ｐ＜０．００５）；ＤＱＢ１０３０１在ＬＡＤＡ组频率显著减少，为１３．３％比４３．９％（Ｐ＜０．０５）。ＤＱＢ１链５７位为天门冬氨酸（Ａｓｐ）纯合子时，在ＩＤＤＭ显著减少，为６．７％比３６．６％（Ｐ＜０．００５）。而为非天门冬氨酸（ｎｏｎＡｓｐ）纯合子时，在ＩＤＤＭ和ＬＡＤＡ组均显著增加，为５１．１％及４６．７％比９．８％（Ｐ＜０．００５和Ｐ＜０．０１）。这些结果提示ＩＤＤＭ易感与Ａｓｐ纯合子减少及非Ａｓｐ纯合子增多均有关，而ＬＡＤＡ的易感主要与非Ａｓｐ纯合子增加有关。比较ＩＤＤＭ与ＬＡＤＡ，易感和保护的ＨＬＡＤＱＢ１基因型也稍有差别。Both insulin dependent diabetes mellitus (IDDM) and latent autoimmune diabetes in adults (LADA) share the same pathgenesis of autoimmune isletitis. In order to probe into the relationship between HLA DQB 1 gene and IDDM and LADA, HLA DQB 1 gene typing was determined in IDDM patients (n=45), LADA patients (n=15), non insulin dependent diabetes mellitus patients (NIDDM, n=30) and healthy controls (Control, n=41). Compared with the controls, the frequency of HLA DQB 1*0201 and DQB 1*0302 was significantly higher in LADA patients (53.4%,66.7% vs 19.5% and 34.2%, P<0.05), the frequency of DQB 1*0302 was also significantly higher in IDDM patients (91.1% vs 34.2%, P<0.005), whereas the frequency of DQB 1*0303 and DQB 1*0402 was significantly lower in IDDM patients (6.60% and 11.1% vs 36.5%, P<0.005), and the frequency of DQB 1*0301 was significantly lower in LADA patients (13.3% vs 43.9%, P<0.05). The frequency of DQB 1 57 Asp homozygote was significantly lower in IDDM patients than in the controls, but the frequency of non_Asp homozygote was significantly higher in both IDDM and LADA patients. It suggests that HLA DQB 1 gene contributes susceptibility and resistance to both IDDM and LADA. Compared with IDDM, the slowly progressive course of LADA may be to some extent related to the relatively higher frequency of Asp homozygote.

关 键 词：IDDM LADA DQB1基因 糖尿病 人白细胞抗原 

分 类 号：R587.103[医药卫生—内分泌]