Abstract | PURPOSE: METHODS: A set of 13 single nucleotide polymorphisms was tested for association with cleft lip with or without palate in 77 European American, 146 Taiwanese, 34 Singaporean, and 40 Korean case-parent trios using both the transmission disequilibrium test and conditional logistic regression models. RESULTS: Evidence of linkage and association was observed among all four populations; and two specific haplotypes [GC composed of rs2235373-rs2235371 (p.V274I) and AAG of rs599021-rs2235373-rs595918] showed the most significant over- and undertransmission among Taiwanese cases (P=9x10(-6) and P=5x10(-6), respectively). The AGC/CGC diplotype composed of rs599021-rs2235373-rs2013162 showed almost a 7-fold increase in risk among the Taiwanese sample (P<10(-3)). These results confirmed the contribution of this gene to susceptibility of oral clefts across different populations; however, the specific single nucleotide polymorphisms showing statistical significance differed among ethnic groups. CONCLUSION: The high-risk genotypes and diplotypes identified here may provide a better understanding of the etiological role of this gene in oral clefts and potential options for genetic counseling.
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Authors | Ji Wan Park, Iain McIntosh, Jacqueline B Hetmanski, Ethylin Wang Jabs, Craig A Vander Kolk, Yah-Huei Wu-Chou, Philip K Chen, Samuel S Chong, Vincent Yeow, Sun Ha Jee, Beyoung Yun Park, M Daniele Fallin, Roxann Ingersoll, Alan F Scott, Terri H Beaty |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 9
Issue 4
Pg. 219-27
(Apr 2007)
ISSN: 1098-3600 [Print] United States |
PMID | 17438386
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- IRF6 protein, human
- Interferon Regulatory Factors
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Topics |
- Asian People
(genetics)
- Cleft Lip
(ethnology, etiology, genetics)
- Cleft Palate
(ethnology, etiology, genetics)
- Genetic Predisposition to Disease
- Genotype
- Haplotypes
- Humans
- Infant, Newborn
- Interferon Regulatory Factors
(genetics)
- Linkage Disequilibrium
- Polymorphism, Single Nucleotide
- Population Groups
(ethnology, genetics)
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