Article
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
American journal of medical genetics. Part A - 1 May 2013
Butali Azeez, Suzuki Satoshi, Cooper Margaret E, Mansilla Adela M, Cuenco Karen, Leslie Elizabeth J, Suzuki Yasushi, Niimi Teruyuki, Yamamoto Masahiko, Ayanga Gongorjav, Erkhembaatar Tudevdorj, Furukawa Hiroo, Fujiwawa Kumiko, Imura Hideto, Petrin Aline L, Natsume Nagato, Beaty Terri H, Marazita Mary L, Murray Jeffery C
Abstract excerpt
Following recent genome wide association studies (GWAS), significant genetic associations have been identified for several genes with nonsyndromic cleft lip with or without cleft palate (CL(P)). To replicate two of these GWAS signals, we investigated the role of common and rare variants in the PAX7 and VAX1 genes. TaqMan genotyping was carried out for SNPs in VAX1 and PAX7 and transmission disequilibrium test...
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