Pérez F, Calvillán M, Santos J L, Carrasco E
Grupo de Biología Moleculary, Universidad de Chile, Santiago, Chile.
Rev Med Chil. 1996 Oct;124(10):1177-86.
The role of HLA class II alleles in the genetic susceptibility to develop insulin-dependent diabetes mellitus (IDDM) was examined by means of PCR and oligospecific probes in 63 IDDM children and 74 controls subjects. In diabetic patients we found a significant increase in the alleles frequency DR3, DR4, DQB10302 and DQA10301 compared to the control group, where the most prevalent alleles were DR2, DR14 (DRB11402), DQA10101 and DQA10201. All the risk genotypes in the diabetic group were similar than in other caucasian groups: DR3/DR4-DQB10201/0302-DQA10301/0501 and DR4/DR4-DQB10302/0302-DQA10301/0301. The homozygote character no asp57 conferred an absolute risk (AR) of 3.87 and the marker Arg52 an AR of 5.78/100.000 bab year. The homozygosis for both markers (no Asp57 + Arg52) had an AR of 7.56/100.000 bab year. Regarding environmental factors associated with IDDM, our population under study showed a low prevalence of infectious agents (mainly mumps and rubella, specifically associated with IDDM) and a high prevalence of effective breast-feeding (over 3 months). These factors could be exercising a protector role in the development of IDDM. The factors that appear to be important in the low incidence of IDDM in Santiago de Chile are: the low prevalence of infectious agents related to IDDM, the high percentage of breast-feeding children in the population, the reduced frequency of susceptible molecules as DR3, DQB10201 (compared to other caucasian groups) and the presence of protective genotypes related to DR13 and DR14 observed in the non diabetic children.
采用聚合酶链反应(PCR)和寡特异性探针技术,对63例胰岛素依赖型糖尿病(IDDM)患儿及74例对照者进行研究,以探讨人类白细胞抗原(HLA)Ⅱ类等位基因在IDDM遗传易感性中的作用。与对照组相比,糖尿病患者中DR3、DR4、DQB10302和DQA10301等位基因频率显著升高,而对照组中最常见的等位基因为DR2、DR14(DRB11402)、DQA10101和DQA10201。糖尿病组所有风险基因型与其他白种人群相似:DR3/DR4-DQB10201/0302-DQA10301/0501和DR4/DR4-DQB10302/0302-DQA10301/0301。无asp57纯合子特征的绝对风险(AR)为3.87,标记物Arg52的AR为5.78/100,每出生年。两种标记物(无Asp57 + Arg52)的纯合性AR为7.56/100,每出生年。关于与IDDM相关的环境因素,我们的研究人群显示感染因子(主要是腮腺炎和风疹,与IDDM有特异性关联)的患病率较低,而有效母乳喂养(超过3个月)的患病率较高。这些因素可能在IDDM的发生中发挥保护作用。在智利圣地亚哥IDDM发病率较低中似乎重要的因素有:与IDDM相关的感染因子患病率低、人群中母乳喂养儿童的比例高、易感分子如DR3、DQB10201的频率降低(与其他白种人群相比)以及在非糖尿病儿童中观察到的与DR13和DR14相关的保护性基因型的存在。