Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines

Cleft Palate Craniofac J. 1997 Jan;34(1):1-6. doi: 10.1597/1545-1569_1997_034_0001_sotcgt_2.3.co_2.

Abstract

Population-based candidate-gene studies can be an effective strategy for identifying genes involved in the etiology of disorders where family-based linkage studies are compromised by lack of access to affected members, low penetrance, and/or genetic heterogeneity. We evaluated association data for four candidate genes using a population from the Philippines that is genetically separate from previously studied Caucasian populations. Case ascertainment was made possible by collaboration with Operation Smile, a volunteer medical organization, which facilitated identification of a large number of cases for study. A new allelic variant of transforming growth factor-beta 3 was identified to use in these studies. After exclusion of syndromic cases of cleft lip and palate, no evidence for association with previously reported allelic variants of transforming growth factor-beta 2 (TGFB2), homeobox 7 (MSX1), or transforming growth factor-alpha (TGFA), or with the new TGFB3 variant was detected. Previous association studies using Caucasian populations of nonsyndromic cleft lip and/or palate (CL/P) and cleft palate only (CPO) have strongly suggested a role for TGFA in the susceptibility of clefting in humans. Exclusion of significant association in a non-Caucasian population for TGFA suggests that TGFA plays less of a role than it does in Caucasians. This may be due to multiple or different genetic and/or environmental factors contributing to the etiology of this most common cranio-facial anomaly in the Philippine population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Case-Control Studies
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14 / genetics
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Environment
  • Female
  • Genes, Homeobox / genetics*
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Homeodomain Proteins / genetics*
  • Humans
  • MSX1 Transcription Factor
  • Male
  • Molecular Sequence Data
  • Philippines
  • Population Surveillance
  • Syndrome
  • Transcription Factors*
  • Transforming Growth Factor alpha / genetics*
  • Transforming Growth Factor beta / genetics*
  • White People / genetics

Substances

  • Homeodomain Proteins
  • MSX1 Transcription Factor
  • Transcription Factors
  • Transforming Growth Factor alpha
  • Transforming Growth Factor beta