10.1002/gepi.21633Genetic Epidemiology364392-399GENY

Beaty, T.H.

Chong, S.

Hetmanski, J.B.

Jee, S.H.

Marazita, M.L.

Munger, R.G.

Murray, J.C.

Murray, T.

Patel, P.

Ruczinski, I.

Schwender, H.

Scott, A.F.

Shi, B.

Taub, M.A.

Wang, H.

Wilcox, A.J.

Wu, T.

Wu-Chou, Y.H.

Ye, X.

Yeow, V.

Zhang, T.X.

PubMed

In a recent genome-wide association study (GWAS) from an international consortium, evidence of linkage and association in chr8q24 was much stronger among nonsyndromic cleft lip/palate (CL/P) case-parent trios of European ancestry than among trios of Asian ancestry. We examined marker information content and haplotype diversity across 13 recruitment sites (from Europe, United States, and Asia) separately, and conducted principal components analysis (PCA) on parents. As expected, PCA revealed large genetic distances between Europeans and Asians, and a north-south cline from Korea to Singapore in Asia, with Filipino parents forming a somewhat distinct Southeast Asian cluster. Hierarchical clustering of SNP heterozygosity revealed two major clades consistent with PCA results. All genotyped SNPs giving P &lt; 10-6 in the allelic transmission disequilibrium test (TDT) showed higher heterozygosity in Europeans than Asians. On average, European ancestry parents had higher haplotype diversity than Asians. Imputing additional variants across chr8q24 increased the strength of statistical evidence among Europeans and also revealed a significant signal among Asians (although it did not reach genome-wide significance). Tests for SNP-population interaction were negative, indicating the lack of strong signal for 8q24 in families of Asian ancestry was not due to any distinct genetic effect, but could simply reflect low power due to lower allele frequencies in Asians. Genet. Epidemiol. 36:392399, 2012. (c) 2012 Wiley Periodicals, Inc.http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000303319900012&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701Genetics &amp; HeredityPublic, Environmental &amp; Occupational HealthSCI(E)9ARTICLE4392-3993

Murray, Tanda

Taub, Margaret A.

Ruczinski, Ingo

Scott, Alan F.

Hetmanski, Jacqueline B.

Schwender, Holger

Patel, Poorav

Zhang, Tian Xiao

Munger, Ronald G.

Wilcox, Allen J.

Ye, Xiaoqian

Wang, Hong

Wu, Tao

Wu-Chou, Yah Huei

Shi, Bing

Jee, Sun Ha

Chong, Samuel

Yeow, Vincent

Murray, Jeffrey C.

Marazita, Mary L.

Beaty, Terri H.

Institutional Repository of Peking University

Genetic Epidemiology

Examining Markers in 8q24 to Explain Differences in Evidence for   Association With Cleft Lip With/Without Cleft Palate Between Asians and   Europeans

ScholarBank@NUS

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans

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Institutional Repository of Peking University

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