Title Are TGFA, TGFB3, GABRB3, RARA and BCL3 loci associated with nonsyndromic orofacial clefts? A Lithuanian study /
Translation of Title Ar TGFA, TGFB3, GABRB3, RARA ir BCL3 genai susiję su nesindrominiais burnos ir veido įskilumais? Lietuvos tyrimai.
Authors Morkūnienė, Aušra ; Steponavičiūtė, Danguolė ; Ambrozaitytė, Laima ; Utkus, Algirdas ; Linkevičienė, Laura ; Kučinskas, Vaidutis
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Is Part of Biologija. 2007, nr. 1, p. 1-6.. ISSN 1392-0146
Keywords [eng] Allelic association ; Candidate genes ; Nonsyndromic orofacial clefts ; Transmission disequilibrium test ; TDT
Abstract [eng] Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by different approaches, but the question of the contribution of their sequence variation to the risk of NS-OFC is still open. A set of 21 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 (child affected with NSOFC poband + both parents) from Lithuania using the transmission disequilibrium test (TDT). Association was found between the TGFA gene marker rs2166975 and nonsyndromic clef palate (CPO) phenotype (P = 0.0455 [df 1]) as well as between the D2S292 marker and isolated cleft lip with or without cleft palate (CL/P) phenotype in allele-wise TDT (P = 0.0053 [df 9]) and genotype-wise TDT (P = 0.0206 [df 24]). A weak association (P = 0.0850 [df 3]) of the BCL3 marker (BCL3 gene) with the risk of CPO was also shown. Thus, our initial results support the contribution of TGFA locus allelic variation in the etiology of CL/P in the population of Lithuania, but do not point to TGFA as a major causal gene. Different roles for the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.
Type Journal article
Language English
Publication date 2007