Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate

H. H. Ardinger, K. H. Buetow, G. I. Bell, J. Bardach, D. R. VanDemark, J. C. Murray

Research output: Contribution to journalArticlepeer-review

269 Scopus citations


Complex segregation analysis of pedigrees having nonsyndromic cleft lip with or without cleft palate (CL/P) (Chung et al. 1986; Marazita et al. 1986) has shown that a major-locus model best explains the observed recurrence of CL/P in Caucasian families. To identify this major gene, we compared the frequencies of 12 RFLPs at five loci - epidermal growth factor, transforming growth factor-α, epidermal growth factor receptor, glucocorticoid receptor, and estrogen receptor - in both a group of 80 subjects with non-syndromic CL/P and 102 controls. These candidate genes were selected because studies in rodents had suggested their possible involvement in palatogenensis. A significant association was observed between two RFLPs at the transforming-growth-factor-α (TGFA) locus and the occurrence of clefting (P = .0047 and P = .0052). This suggests that either the TGFA gene itself or DNA sequences in an adjacent region contribute to the development of a portion of cases of CL/P in humans and provides an opportunity to begin to examine the molecular events underlying lip and palate formation.

Original languageEnglish (US)
Pages (from-to)348-353
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number3
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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