Significant association of HLA-B and HLA-DRB1 alleles with cleft lip with or without cleft palate.
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=0.003), whereas the increase of B*5101 was evident in male patients (OR=3.7, Pc < 0.001). One HLA-DRB1 allele, HLA-DRB1*0802 also showed an increase in CL/P patients. Conversely, HLA-B*4403 and DRB1*1302 were not observed in the patient group (Pc=0.01 and Pc=0.02, 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.
Sakata
Y
Y
Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Tokyo, Japan. yasuaki@m.u-tokyo.ac.jp
Tokunaga
K
K
Yonehara
Y
Y
Bannai
M
M
Tsuchiya
N
N
Susami
T
T
Takato
T
T
D000483:Alleles; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D015235:HLA-B Antigens / Q000235:genetics*; D006682:HLA-DP Antigens / Q000235:genetics; D059868:HLA-DP beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D008297:Male
D015235:HLA-B Antigens; D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains