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Journal of Applied Genetics 48(1), 2007, pp. 89-91

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania

Ausra Morkuniene, Danguole Steponaviciute, Algirdas Utkus, Vaidutis Kucinskas

Abstract: Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (p = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.

Key words: allelic association, candidate genes, nonsyndromic orofacial clefts, transmission disequilibrium test.

Correspondence: V. Kucinskas, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskiu street 2, LT-08661, Vilnius, Lithuania; e-mail:

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