Gogolin K J, Spielman R S
Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104-6072.
Genet Epidemiol. 1989;6(1):113-6. doi: 10.1002/gepi.1370060121.
Almost all human leukocyte antigen (HLA) haplotypes positive for HLA-DR4 also carry the DQw3 specificity, which appears in one of two allelic forms, DQw3.1 or DQw3.2. Previous studies have shown that the frequency of the HLA DR4-DQw3.2 allele is approximately 95% among DR4-positive haplotypes of insulin-dependent diabetics (IDDM), but only 70% in DR4-positive haplotypes of unaffected individuals. Because this difference could be due to ethnic heterogeneity, it is important to establish whether the frequency of the DQw3.2 allele is also increased when haplotypes of diabetics are compared to those of "matched" unaffected individuals, as can be done within families. We have used the Genetic Analysis Workshop 5 (GAW5) data for this purpose. In every family, each parental DR4-bearing haplotype was categorized as "IDDM" if it appeared in any affected parent or offspring, or as "control" if not. When this was done, the frequencies of the DQw3.2 and 3.1 allele in 80 IDDM haplotypes were 94% and 6% respectively but 67% and 33% in 15 control haplotypes. This difference between the two kinds of haplotypes is highly significant (P less than 0.005).
几乎所有携带人类白细胞抗原（HLA）-DR4的单倍型也带有DQw3特异性，它以两种等位基因形式之一出现，即DQw3.1或DQw3.2。先前的研究表明，在胰岛素依赖型糖尿病患者（IDDM）的DR4阳性单倍型中，HLA DR4-DQw3.2等位基因的频率约为95%，而在未受影响个体的DR4阳性单倍型中仅为70%。由于这种差异可能是由于种族异质性造成的，所以确定与“匹配”的未受影响个体相比，糖尿病患者单倍型中DQw3.2等位基因的频率是否也增加很重要，就像在家族内部进行比较那样。我们为此使用了遗传分析研讨会5（GAW5）的数据。在每个家族中，每个携带DR4的亲代单倍型如果出现在任何患病的亲代或后代中，则被归类为“IDDM”，否则归类为“对照”。这样做时，80个IDDM单倍型中DQw3.2和3.1等位基因的频率分别为94%和6%，而在15个对照单倍型中分别为67%和33%。这两种单倍型之间的差异非常显著（P小于0.005）。
