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- Title
Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts.
- Authors
Vieira, Alexandre R.; de Carvalho, Flavia M.; Johnson, Lindsay; DeVos, Lauren; Swailes, Alexa L.; Weber, Megan L.; Deeley, Kathleen
- Abstract
Objective: The aim of this work was to fine-map the region 6q23.1, which obtained suggestive linkage signal (logarithm of the odds [LOD] score = 2.22 under a recessive model) to cleft lip with or without cleft palate (CL±P) in our previous genome-wide linkage scan to identify possible genetic variants that may contribute to CL±P. Design: We used densely spaced markers spanning the entire 6q23.1 region to test for association with CL±P in a family cohort sample. Setting: Clinical information and DNA samples were obtained from families in the Philippines at their homes or primary health care clinics. Participants: The study sample consisted of 477 subjects (224 females and 253 males), segregating isolated CL±P, from 72 living in the same area in the Philippines. Main Outcome Measure: Overtransmission of alleles to persons born with CL±P. Results: We found statistical evidence of association between a marker of TULP4 (rs651333) with CL±P (P=.00007). Conclusions: Our results further support the linkage results for the chromosome 6q region and reveal a novel candidate gene for CL±P.
- Subjects
PHILIPPINES; COMPLICATIONS of alcoholism; CLEFT palate; CLEFT lip; ACADEMIC medical centers; MALNUTRITION; CHI-squared test; GENETIC polymorphisms; GENETIC mutation; DATA analysis software; GENOTYPES; GENETICS
- Publication
Cleft Palate Craniofacial Journal, 2015, Vol 52, Issue 2, p128
- ISSN
1055-6656
- Publication type
Article
- DOI
10.1597/13-023