Journal article
Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
American journal of medical genetics, Vol.125A(2), pp.135-144
2004
DOI: 10.1002/ajmg.a.20425
PMID: 14981713
Abstract
Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al., 2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27, 8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3), 16q22-24, 17q12-21 (RARA), and Xcen-q21. Linkage was performed using parametric (dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12-q13 (P = 0.034), 12q13 (P = 0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12-q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01, P = 0.009), 4p16 (MNPL = 2.07, P = 0.03) and 12q13 (SNPL = 3.55, P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23-25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23-25, 16q22-24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists.
Details
- Title: Subtitle
- Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio
- Creators
- Lina M MORENO - Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa, United StatesMauricio ARCOS-BURGOS - Institute of Biology, University of Antioquia, Medellín, Colombia, United StatesMary L MARAZITA - Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United StatesKatherine KRAHN - Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa, United StatesBrion S MAHER - Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United StatesMargaret E COOPER - Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United StatesConsuelo R VALENCIA-RAMIREZ - College of Dentistry, University of Antioquia, Medellín, Colombia, United StatesAndrew C LIDRAL - Dows Institute for Dental Research, University of Iowa, Iowa City, Iowa, United States
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.125A(2), pp.135-144
- DOI
- 10.1002/ajmg.a.20425
- PMID
- 14981713
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley-Liss; New York, NY
- Language
- English
- Date published
- 2004
- Academic Unit
- Orthodontics; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984065719302771
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