Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25

Augusto Rojas-Martinez, Heiko Reutter, Oscar Chacon-Camacho, Rafael B.R. Leon-Cachon, Sergio G. Munoz-Jimenez, Stefanie Nowak, Jessica Becker, Ruth Herberz, Kerstin U. Ludwig, Mario Paredes-Zenteno, Abelardo Arizpe-Cantú, Susanne Raeder, Stefan Herms, Rocio Ortiz-Lopez, Michael Knapp, Per Hoffmann, Markus M. Nöthen, Elisabeth Mangold

Resultado de la investigación

41 Citas (Scopus)

Resumen

INTRODUCTION: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. NSCL/P has a multifactorial etiology that includes both genetic and environmental factors. The IRF6 gene and three further susceptibility loci at 8q24, 10q25, and 17q22, which were identified by a recent genome-wide association scan (GWAS), are confirmed genetic risk factors for NSCL/P in patients of European descent. METHODS: A case-control association study was performed to investigate whether these four risk loci contribute to NSCL/P in a Mesoamerican population using four single nucleotide polymorphisms to represent IRF6 and the three novel susceptibility loci. A total of 149 NSCL/P patients and 303 controls of Mayan origin were included. RESULTS: Single marker analysis revealed a significant association between NSCL/P and risk variants in IRF6 and the 8q24 and 10q25 loci. In contrast to previous findings, the association at the 8q24 locus was driven solely by homozygote carriers of the risk allele. This suggests that this locus might act in a recessive manner in the Mayan population. No evidence for association was found at the 17q22 locus. This may have been attributable to the limited power of the sample. CONCLUSION: These results suggest that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin. © 2010 Wiley-Liss, Inc.
Idioma originalEnglish
Páginas (desde-hasta)535-537
Número de páginas3
PublicaciónBirth Defects Research Part A - Clinical and Molecular Teratology
DOI
EstadoPublished - 1 ene 2010
Publicado de forma externa

Huella dactilar

Cleft Lip
Cleft Palate
Population
Genome-Wide Association Study
Homozygote
Single Nucleotide Polymorphism
Case-Control Studies
Alleles
Genes

All Science Journal Classification (ASJC) codes

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

Citar esto

Rojas-Martinez, Augusto ; Reutter, Heiko ; Chacon-Camacho, Oscar ; Leon-Cachon, Rafael B.R. ; Munoz-Jimenez, Sergio G. ; Nowak, Stefanie ; Becker, Jessica ; Herberz, Ruth ; Ludwig, Kerstin U. ; Paredes-Zenteno, Mario ; Arizpe-Cantú, Abelardo ; Raeder, Susanne ; Herms, Stefan ; Ortiz-Lopez, Rocio ; Knapp, Michael ; Hoffmann, Per ; Nöthen, Markus M. ; Mangold, Elisabeth. / Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. En: Birth Defects Research Part A - Clinical and Molecular Teratology. 2010 ; pp. 535-537.
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title = "Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25",
abstract = "INTRODUCTION: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. NSCL/P has a multifactorial etiology that includes both genetic and environmental factors. The IRF6 gene and three further susceptibility loci at 8q24, 10q25, and 17q22, which were identified by a recent genome-wide association scan (GWAS), are confirmed genetic risk factors for NSCL/P in patients of European descent. METHODS: A case-control association study was performed to investigate whether these four risk loci contribute to NSCL/P in a Mesoamerican population using four single nucleotide polymorphisms to represent IRF6 and the three novel susceptibility loci. A total of 149 NSCL/P patients and 303 controls of Mayan origin were included. RESULTS: Single marker analysis revealed a significant association between NSCL/P and risk variants in IRF6 and the 8q24 and 10q25 loci. In contrast to previous findings, the association at the 8q24 locus was driven solely by homozygote carriers of the risk allele. This suggests that this locus might act in a recessive manner in the Mayan population. No evidence for association was found at the 17q22 locus. This may have been attributable to the limited power of the sample. CONCLUSION: These results suggest that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin. {\circledC} 2010 Wiley-Liss, Inc.",
author = "Augusto Rojas-Martinez and Heiko Reutter and Oscar Chacon-Camacho and Leon-Cachon, {Rafael B.R.} and Munoz-Jimenez, {Sergio G.} and Stefanie Nowak and Jessica Becker and Ruth Herberz and Ludwig, {Kerstin U.} and Mario Paredes-Zenteno and Abelardo Arizpe-Cant{\'u} and Susanne Raeder and Stefan Herms and Rocio Ortiz-Lopez and Michael Knapp and Per Hoffmann and N{\"o}then, {Markus M.} and Elisabeth Mangold",
year = "2010",
month = "1",
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doi = "10.1002/bdra.20689",
language = "English",
pages = "535--537",
journal = "Teratology",
issn = "1542-0752",
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Rojas-Martinez, A, Reutter, H, Chacon-Camacho, O, Leon-Cachon, RBR, Munoz-Jimenez, SG, Nowak, S, Becker, J, Herberz, R, Ludwig, KU, Paredes-Zenteno, M, Arizpe-Cantú, A, Raeder, S, Herms, S, Ortiz-Lopez, R, Knapp, M, Hoffmann, P, Nöthen, MM & Mangold, E 2010, 'Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25', Birth Defects Research Part A - Clinical and Molecular Teratology, pp. 535-537. https://doi.org/10.1002/bdra.20689

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. / Rojas-Martinez, Augusto; Reutter, Heiko; Chacon-Camacho, Oscar; Leon-Cachon, Rafael B.R.; Munoz-Jimenez, Sergio G.; Nowak, Stefanie; Becker, Jessica; Herberz, Ruth; Ludwig, Kerstin U.; Paredes-Zenteno, Mario; Arizpe-Cantú, Abelardo; Raeder, Susanne; Herms, Stefan; Ortiz-Lopez, Rocio; Knapp, Michael; Hoffmann, Per; Nöthen, Markus M.; Mangold, Elisabeth.

En: Birth Defects Research Part A - Clinical and Molecular Teratology, 01.01.2010, p. 535-537.

Resultado de la investigación

TY - JOUR

T1 - Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25

AU - Rojas-Martinez, Augusto

AU - Reutter, Heiko

AU - Chacon-Camacho, Oscar

AU - Leon-Cachon, Rafael B.R.

AU - Munoz-Jimenez, Sergio G.

AU - Nowak, Stefanie

AU - Becker, Jessica

AU - Herberz, Ruth

AU - Ludwig, Kerstin U.

AU - Paredes-Zenteno, Mario

AU - Arizpe-Cantú, Abelardo

AU - Raeder, Susanne

AU - Herms, Stefan

AU - Ortiz-Lopez, Rocio

AU - Knapp, Michael

AU - Hoffmann, Per

AU - Nöthen, Markus M.

AU - Mangold, Elisabeth

PY - 2010/1/1

Y1 - 2010/1/1

N2 - INTRODUCTION: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. NSCL/P has a multifactorial etiology that includes both genetic and environmental factors. The IRF6 gene and three further susceptibility loci at 8q24, 10q25, and 17q22, which were identified by a recent genome-wide association scan (GWAS), are confirmed genetic risk factors for NSCL/P in patients of European descent. METHODS: A case-control association study was performed to investigate whether these four risk loci contribute to NSCL/P in a Mesoamerican population using four single nucleotide polymorphisms to represent IRF6 and the three novel susceptibility loci. A total of 149 NSCL/P patients and 303 controls of Mayan origin were included. RESULTS: Single marker analysis revealed a significant association between NSCL/P and risk variants in IRF6 and the 8q24 and 10q25 loci. In contrast to previous findings, the association at the 8q24 locus was driven solely by homozygote carriers of the risk allele. This suggests that this locus might act in a recessive manner in the Mayan population. No evidence for association was found at the 17q22 locus. This may have been attributable to the limited power of the sample. CONCLUSION: These results suggest that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin. © 2010 Wiley-Liss, Inc.

AB - INTRODUCTION: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. NSCL/P has a multifactorial etiology that includes both genetic and environmental factors. The IRF6 gene and three further susceptibility loci at 8q24, 10q25, and 17q22, which were identified by a recent genome-wide association scan (GWAS), are confirmed genetic risk factors for NSCL/P in patients of European descent. METHODS: A case-control association study was performed to investigate whether these four risk loci contribute to NSCL/P in a Mesoamerican population using four single nucleotide polymorphisms to represent IRF6 and the three novel susceptibility loci. A total of 149 NSCL/P patients and 303 controls of Mayan origin were included. RESULTS: Single marker analysis revealed a significant association between NSCL/P and risk variants in IRF6 and the 8q24 and 10q25 loci. In contrast to previous findings, the association at the 8q24 locus was driven solely by homozygote carriers of the risk allele. This suggests that this locus might act in a recessive manner in the Mayan population. No evidence for association was found at the 17q22 locus. This may have been attributable to the limited power of the sample. CONCLUSION: These results suggest that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin. © 2010 Wiley-Liss, Inc.

U2 - 10.1002/bdra.20689

DO - 10.1002/bdra.20689

M3 - Article

SP - 535

EP - 537

JO - Teratology

JF - Teratology

SN - 1542-0752

ER -