Study on ability of Maxillo-facial growth in the patients with congenital anomalies by HLA-typing

对伴有或不伴有腭裂的日本唇裂患者（CL/P）进行HLA-B、-DRB1和-DPB1等位基因的核苷酸序列分型。HLA-B等位基因B*1501和B*5101与CL/P呈显著正相关。女性患者B*1501明显升高（OR = 3.6, pc = 0.005），男性患者B*5101明显升高（OR = 3.7, pc < 0.002）。一个HLA-DRB1等位基因HLA-DRB1*0802在CL/P患者中也显示出增加。相反，患者组未观察到HLA-B*4403 End DRBl*1302 （pc = 0.004, pc = 0.007）。HLA-DPB1等位基因与CL/P均无显著相关性。因此，本研究提示HLA等位基因或紧密连锁位点可能参与了CL/P的发病机制。

Nucleotide sequence level typing of HLA-B, -DRB1, and -DPB1 alleles was performed on Japanese patients with cleft lip with or without cleft palate (CL/P). Two HLA-B alleles, B*1501 and B*5101, showed a significant positive association with CL/P. The increase of B*1501 was evident in female patients (OR = 3.6, pc = 0.005), whereas the increase of B*5101 was evident in male patients (OR = 3.7, pc < 0.002). One HLA-DRB1 allele, HLA-DRB1*0802 also showed an increase in CL/P patients. Conversely, HLA-B*4403 End DRBl*1302 were not observed in the patient group (pc = 0.004 and pc = 0.007, respectively). No HLA-DPB1 alleles showed significant association with CL/P. Thus, the present study indicates that HLA alleles, or closely linked loci, may be involved in the pathogenesis of CL/P.