Diffuse Panbronchiolitis Critical Region 1 (DPCR1)

Diffuse panbronchiolitis is characterized by sinobronchial infection and diffuse bilateral micronodular pulmonary lesions. It appears to be a multifactorial genetic disorder predominantly affecting East Asians, occurring with a frequency of 0.00011 in Japanese. This chronic airway disease was first described in Japanese patients and subsequently in Koreans and Chinese; a few cases had been reported outside Asia, notably in Asian emigrants . Most patients were the only affected members of their families, and disease association studies had been the sole method of genetic analysis. All the haplotypes observed seemed to have diverged from a common ancestral haplotype in East Asians and shared a specific segment containing 3 consecutive markers between the S and GTF2H4 loci in the class I region.