Kretowski A, Kinalska I
Klinika Endokrynologii AM w Białymstoku.
Pol Arch Med Wewn. 1999 Mar;101(3):205-11.
The second-generation screen of human genome has confirmed that HLA region genes play a key role in the susceptibility to insulin-dependent diabetes mellitus. The aim of the present study was to estimate the frequency of chosen alleles of DQA1 and DQB1 genes in the patients with insulin-dependent diabetes mellitus and their first degree relatives in comparison to the healthy population in the north-eastern region of Poland. HLA typing of DQA1 and DQB1 alleles of the HLA region was performed by "phototyping" PCR-SSP method. The highest predisposition to IDDM in the population of the north-eastern region of Poland was associated with DQB10302 allele and DQB102-DQA10301 or DQB10302-DQA10301 haplotypes, while the dominant protection was connected with DQB10602, DQB10603 and DQB10301 alleles. The high frequency of protective DQB10602 and DQB10603 alleles and the low percentage of "diabetogenic" DQB10302 genes in the healthy control population of north-estern region of Poland may suggest their dominant influence on the relatively low incidence of IDDM in this region. The relatively high percentage of the first degree relatives of IDDM patients with pancreatic autoantibodies but with protective alleles observed in our study, which significantly decreases the risk of IDDM, suggests the necessity of DQB10602-03 measurements in such subjects for the better IDDM risk assessment.
人类基因组的第二代筛查已证实，HLA区域基因在胰岛素依赖型糖尿病易感性中起关键作用。本研究的目的是评估波兰东北部地区胰岛素依赖型糖尿病患者及其一级亲属中，与健康人群相比，DQA1和DQB1基因特定等位基因的频率。采用“光分型”PCR-SSP方法对HLA区域的DQA1和DQB1等位基因进行HLA分型。波兰东北部地区人群中，IDDM的最高易感性与DQB10302等位基因以及DQB102-DQA10301或DQB10302-DQA10301单倍型相关，而主要的保护作用与DQB10602、DQB10603和DQB10301等位基因有关。在波兰西北部地区健康对照人群中，保护性DQB10602和DQB10603等位基因的高频率以及“致糖尿病性”DQB10302基因的低比例，可能表明它们对该地区IDDM相对较低的发病率有主要影响。在我们的研究中，IDDM患者的一级亲属中胰腺自身抗体阳性但具有保护性等位基因的比例相对较高，这显著降低了IDDM的风险，这表明对这类受试者进行DQB10602-03检测对于更好地评估IDDM风险是必要的。
