Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
In: SCI, 2006
Online
academicJournal
Zugriff:
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. ; Genetics & Heredity ; SCI(E) ; 22 ; ARTICLE ; 4 ; 501-518 ; 120
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Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations
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Autor/in / Beteiligte Person: | Beaty, T. H. ; Hetmanski, J. B. ; Fallin, M. D. ; Park, J. W. ; Sull, J. W. ; McIntosh, I. ; Liang, K. Y. ; VanderKolk, C. A. ; Redett, R. J. ; Boyadjiev, S. A. ; Jabs, E. W. ; Chong, S. S. ; Cheah, F. S. H. ; Wu-Chou, Y. H. ; Chen, P. K. ; Chiu, Y. F. ; Yeow, V. ; Ng, I. S. L. ; Cheng, J. ; Huang, S. ; Ye, X. ; Wang, H. ; Ingersoll, R. ; Scott, A. F. ; Beaty, TH (reprint author), Johns Hopkins Univ, 615 N Wolfe St, Baltimore, MD USA. ; Johns Hopkins Univ, Baltimore, MD USA. ; Johns Hopkins Univ, Inst Med Genet, Baltimore, MD 21218 USA. ; Amer Univ Caribbean, St Maarteen, Neth Antilles. ; Johns Hopkins Univ, Sch Med, Baltimore, MD 21218 USA. ; Natl Univ Singapore, Yong Loo Lin Sch Med, Singapore 117548, Singapore. ; Chang Gung Mem Hosp, Taipei 10591, Taiwan. ; Natl Hlth Res Inst, Taipei, Taiwan. ; KK Womens & Childrens Hosp, Singapore, Singapore. ; Chinese Acad Med Sci, Beijing 100037, Peoples R China. ; WuHan Univ, Wuhan, Peoples R China. ; Peking Univ, Hlth Sci Ctr, Beijing 100871, Peoples R China. ; Johns Hopkins Univ, 615 N Wolfe St, Baltimore, MD USA. |
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Zeitschrift: | SCI, 2006 |
Veröffentlichung: | human genetics, 2006 |
Medientyp: | academicJournal |
ISSN: | 0340-6717 (print) |
DOI: | 10.1007/s00439-006-0235-9 |
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