Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Research Abstract Details 

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Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Abstract Text:

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,

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.

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Publishing Authors By Initials

TH Beaty,JB Hetmanski,MD Fallin,JW Park,JW Sull,I McIntosh,KY Liang,CA Vanderkolk,RJ Redett,SA Boyadjiev,EW Jabs,SS Chong,FS Cheah,YH Wu-Chou,PK Chen,YF Chiu,V Yeow,IS Ng,J Cheng,S Huang,X Ye,H Wang,R Ingersoll,AF Scott,

For similar geographic locations: asia: far east: taiwan research abstracts see: geographic locations: asia: far east: taiwan research

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Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human genetics

VOLUME: 120

Page Numbers: 501-18

Journal Abbreviation: Hum. Genet.

ISSN: 0340-6717

DAY: 5

MONTH: 09

YEAR: 2006

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Information

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LANGUAGE: eng

NlmUniqueID: 7613873

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Keywords Mesh Terms:

KEYWORDS: Taiwan

MESH TERMS: genetics

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Grant and Affiliation Information for Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

AFFILIATION: Johns Hopkins University, Baltimore, MD, USA. tbeaty@jhsph.edu

Country: Germany

AGENCY: United States NIDCR

GRANT: R21 DE13707

ACRONYM: DE

MEDLINETA: Hum Genet

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