Journal article
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: A case-parent triad analysis
Genetic epidemiology, Vol.24(3), pp.230-239
2003
DOI: 10.1002/gepi.10223
PMID: 12652527
Abstract
We selected 262 case-parent triads from a population-based study of orofacial clefts in Norway, and examined variants of developmental genes TGFA, TGFB3, and MSX1 in the etiology of orofacial clefts. One hundred seventy-four triads of cleft lip cases (CL+/-P) and 88 triads of cleft palate only cases (CPO) were analyzed. There was little evidence for an association of any of these genes with CL+/-P. The strongest association was a 1.7-fold risk with two copies of the TGFB3-CA variant (95% CI=0.9-3.0). Among CPO cases, there was a 3-fold risk with two copies of the TGFA TaqI A2 allele, and no increase with one copy. Assuming this to be a recessive effect, we estimated a 3.2-fold risk among babies homozygous for the variant (95% CI=1.1-9.2). Furthermore, there was strong evidence of gene-gene interaction. While there was only a weak association of the MSX1-CA variant with CPO, the risk was 9.7-fold (95% CI=2.9-32) among children homozygous for both the MSX1-CA A4 allele and the TGFA A2 allele. No association of CPO with the TGFA variant was seen among the other MSX1-CA genotypes. In conclusion, no strong associations were found between CL+/-P and variants at these three genes. There was a possible recessive effect of the TGFA TaqI variant on the risk of CPO, with a 3-fold risk among children homozygous for the variant. The effect of this TGFA genotype was even stronger among children homozygous for the MSX1-CA A4 allele, raising the possibility of interaction between these two genes.
Details
- Title: Subtitle
- Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: A case-parent triad analysis
- Creators
- Astanand JUGESSUR - Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, NorwayRolv T LIE - Section for Medical Statistics and Medical Birth Registry of Norway, University of Bergen, Bergen, NorwayAllen J WILCOX - Epidemiology Branch, NIEHS, Durham, North Carolina, United StatesJeffrey C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United StatesJack A TAYLOR - Epidemiology Branch, NIEHS, Durham, North Carolina, United StatesOla D SAUGSTAD - Department of Pediatric Research, Rikshospitalet, Oslo, NorwayHallvard A VINDENES - Department of Plastic Surgery, Haukeland University Hospital, Bergen, NorwayFrank ABYHOLM - Department of Plastic Surgery, Rikshospitalet, Oslo, Norway
- Resource Type
- Journal article
- Publication Details
- Genetic epidemiology, Vol.24(3), pp.230-239
- DOI
- 10.1002/gepi.10223
- PMID
- 12652527
- NLM abbreviation
- Genet Epidemiol
- ISSN
- 0741-0395
- eISSN
- 1098-2272
- Publisher
- Wiley-Liss; New York, NY
- Grant note
- name: Medical Birth Registry of Norway; name: Locus for Registry Epidemiology, University of Bergen; DOI: 10.13039/100000066, name: U.S. National Institute of Environmental Health Sciences; DOI: 10.13039/100000002, name: U.S. National Institutes of Health, award: DE08559, DE11948; DOI: 10.13039/501100005416, name: Norwegian Research Council
- Language
- English
- Date published
- 2003
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025315102771
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