| Title |
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
|
|---|---|
| Published in |
Human Genetics, September 2006
|
| DOI | 10.1007/s00439-006-0235-9 |
| Pubmed ID | |
| Authors |
T. H. Beaty, J. B. Hetmanski, M. D. Fallin, J. W. Park, J. W. Sull, I. McIntosh, K. Y. Liang, C. A. VanderKolk, R. J. Redett, S. A. Boyadjiev, E. W. Jabs, S. S. Chong, F. S. H. Cheah, Y. H. Wu-Chou, P. K. Chen, Y. F. Chiu, V. Yeow, I. S. L. Ng, J. Cheng, S. Huang, X. Ye, H. Wang, R. Ingersoll, A. F. Scott |
| Abstract |
Isolated oral clefts, including cleft lip with/without cleft palate (CL/P) and cleft palate (CP), have a complex and heterogeneous etiology. Case-parent trios from three populations were used to study genes spanning chromosome 2, where single nucleotide polymorphic (SNP) markers were analyzed individually and as haplotypes. Case-parent trios from three populations (74 from Maryland, 64 from Singapore and 95 from Taiwan) were genotyped for 962 SNPs in 104 genes on chromosome 2, including two well-recognized candidate genes: TGFA and SATB2. Individual SNPs and haplotypes (in sliding windows of 2-5 SNPs) were used to test for linkage and disequilibrium separately in CL/P and CP trios. A novel candidate gene (ZNF533) showed consistent evidence of linkage and disequilibrium in all three populations for both CL/P and CP. SNPs in key regions of ZNF533 showed considerable variability in estimated genotypic odds ratios and their significance, suggesting allelic heterogeneity. Haplotype frequencies for regions of ZNF533 were estimated and used to partition genetic variance into among-and within-population components. Wright's fixation index, a measure of genetic diversity, showed little difference between Singapore and Taiwan compared with Maryland. The tensin-1 gene (TNS1) also showed evidence of linkage and disequilibrium among both CL/P and CP trios in all three populations, albeit at a lower level of significance. Additional genes (VAX2, GLI2, ZHFX1B on 2p; WNT6-WNT10A and COL4A3-COL4A4 on 2q) showed consistent evidence of linkage and disequilibrium only among CL/P trios in all three populations, and TGFA showed significant evidence in two of three populations. |
Mendeley readers
The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Singapore | 1 | 2% |
| Unknown | 43 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 22% |
| Student > Bachelor | 5 | 11% |
| Professor | 5 | 11% |
| Student > Ph. D. Student | 5 | 11% |
| Student > Doctoral Student | 4 | 9% |
| Other | 8 | 18% |
| Unknown | 8 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 33% |
| Agricultural and Biological Sciences | 9 | 20% |
| Biochemistry, Genetics and Molecular Biology | 8 | 18% |
| Psychology | 1 | 2% |
| Nursing and Health Professions | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 11 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 October 2019.
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#7,454,427
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Outputs from Human Genetics
#933
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Outputs of similar age
#23,269
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Outputs of similar age from Human Genetics
#10
of 21 outputs
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