Kirk R L, Theophilus J, Whitehouse S, Court J, Zimmet P
Diabetes. 1979 Oct;28(10):949-51. doi: 10.2337/diab.28.10.949.
The distribution of phenotypes controlled by two loci on chromosome 6 has been studied in a series of 239 patients with type 1 (insulin-dependent) and 297 patients with type 2 (non-insulin-dependent) diabetes mellitus. At the properdin factor B (Bf) locus there is a significant increase in the frequency of the BfSu and BfF1 alleles for type 1 patients, and the combined inc;rease in frequency of BfS1 and BfF1 in those patients is highly significant. The relative risk for F1 is 6.2 and for F1 and S1 combined is 5.3. These results confirm the association with F1 reported recently by Raum and co-workers in Boston. The two rare alleles BfS1 and BfF1 are in significant negative disequilibrium with HLA B8. For the glyoxalase (GLO) locus there is a slight but nonsignificant increase in the frequency of the GLO2 allele, but a significant disturbance in the distribution of the GLO phenotypes for type 2 patients. These results for the GLO alleles may be due to stratification in our series of type 2 patients. Further studies are in progress to test this hypothesis.
对239例1型（胰岛素依赖型）糖尿病患者和297例2型（非胰岛素依赖型）糖尿病患者进行了研究，以探讨由6号染色体上两个基因座控制的表型分布情况。在备解素因子B（Bf）基因座，1型糖尿病患者中BfSu和BfF1等位基因的频率显著增加，这些患者中BfS1和BfF1频率的合并增加非常显著。F1的相对风险为6.2，F1和S1合并的相对风险为5.3。这些结果证实了劳姆及其波士顿同事最近报道的与F1的关联。两个罕见等位基因BfS1和BfF1与HLA B8存在显著的负连锁不平衡。对于乙二醛酶（GLO）基因座，GLO2等位基因的频率有轻微但不显著的增加，但2型糖尿病患者的GLO表型分布存在显著紊乱。GLO等位基因的这些结果可能是由于我们的2型糖尿病患者系列中的分层所致。正在进行进一步研究以检验这一假设。
