BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate

Nicholas Rodriguez, Lorena Maili, Brett T. Chiquet, Susan H Blanton, Jacqueline T. Hecht, Ariadne Letra

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of BRCA1 and BRCA2 genes with NSCL/P. Methods: Twelve polymorphisms in/nearby BRCA1 and BRCA2 were genotyped using Taqman chemistry. Our data set consisted of 3,473 individuals including 2,191 nonHispanic white (NHW) individuals (from 151 multiplex and 348 simplex families) and 1,282 Hispanic individuals (from 92 multiplex and 216 simplex families). Data analysis was performed using Family-Based Association Test (FBAT), stratified by ethnicity and family history of NSCL/P. Results: Nominal associations were found between NSCL/P and BRCA1 in Hispanics and BRCA2 in NHW and Hispanics (p <.05). Significant haplotype associations were found between NSCL/P and both BRCA1 and BRCA2 (p ≤.004). Conclusions: Our results suggest a modest association between BRCA1 and BRCA2 and NSCL/P. Further studies in additional populations and functional studies are needed to elucidate the role of these genes in developmental processes and signaling pathways contributing to NSCL/P.

Original languageEnglish (US)
Pages (from-to)1043-1048
Number of pages6
JournalBirth Defects Research
Volume110
Issue number12
DOIs
StatePublished - Jul 17 2018

Fingerprint

BRCA2 Gene
BRCA1 Gene
Genes
Association reactions
Hispanic Americans
Polymorphism
Developmental Genes
Cleft Lip
Cleft Palate
Haplotypes
Orofacial Cleft 1
Population

Keywords

  • Association
  • BRCA1
  • BRCA2
  • Cleft lip/palate

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis

Cite this

Rodriguez, N., Maili, L., Chiquet, B. T., Blanton, S. H., Hecht, J. T., & Letra, A. (2018). BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate. Birth Defects Research, 110(12), 1043-1048. https://doi.org/10.1002/bdr2.1346

BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate. / Rodriguez, Nicholas; Maili, Lorena; Chiquet, Brett T.; Blanton, Susan H; Hecht, Jacqueline T.; Letra, Ariadne.

In: Birth Defects Research, Vol. 110, No. 12, 17.07.2018, p. 1043-1048.

Research output: Contribution to journalArticle

Rodriguez, N, Maili, L, Chiquet, BT, Blanton, SH, Hecht, JT & Letra, A 2018, 'BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate', Birth Defects Research, vol. 110, no. 12, pp. 1043-1048. https://doi.org/10.1002/bdr2.1346
Rodriguez N, Maili L, Chiquet BT, Blanton SH, Hecht JT, Letra A. BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate. Birth Defects Research. 2018 Jul 17;110(12):1043-1048. https://doi.org/10.1002/bdr2.1346
Rodriguez, Nicholas ; Maili, Lorena ; Chiquet, Brett T. ; Blanton, Susan H ; Hecht, Jacqueline T. ; Letra, Ariadne. / BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate. In: Birth Defects Research. 2018 ; Vol. 110, No. 12. pp. 1043-1048.
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