Population and Family Studies of HLA in Japanese with Cleft Lip and Cleft Palate

Abstract

Population and family studies of HLA were performed in Japa— nese patients with cleft lip and/or cleft palate (CL/P). Frequency of HLA-Cw 7 was significantly increased in cleft lip (CL) patients (37.5%) and cleft palate (CP) patients (37.8%) but was not increased in cleft lip and palate (CLP) patients (17.5%), com— pared with control subjects (13.3%). However, the intensities of the associations were not great (relative risk = 4.0). The affected sib pairs method was studied in 13 families with CL-or CLP—affected sib pairs and 10 families with CP-affected sib pairs. However, in both groups of families the distributions of HLA haplotypes in affected sib pairs did not significantly differ from random Mendelian expectation. Thus, HLA-linked major genes (loci) which determine the development of CL/P were not found. These results seem indirectly to support the multifactorial theory of CL/P, but does not exclude other possible genetic mechanisms.