Nowa wersja platformy, zawierająca wyłącznie zasoby pełnotekstowe, jest już dostępna.
Przejdź na https://bibliotekanauki.pl

PL EN


Preferencje help
Widoczny [Schowaj] Abstrakt
Liczba wyników
2007 | 48 | 1 | 89-91
Tytuł artykułu

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

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
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.
Słowa kluczowe
Wydawca
-
Rocznik
Tom
48
Numer
1
Strony
89-91
Opis fizyczny
p.89-91,ref.
Twórcy
autor
  • Vilnius University, Santariskiu street 2, LT-08661, Vilnius, Lithuania
autor
autor
Bibliografia
  • Jugessur A, Murray JC, 2005. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 15: 270-278.
  • Lidral AC, Moreno LM, 2005. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 17: 731-739.
  • Marazita ML, Murray JC, Lidral AC, et al. 2004. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2p32-35. Am J Hum Genet 75: 161-173.
  • Mitchell LE, 1997. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 14: 231-240.
  • Mossey PA, Little J, 2002. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, ed. Cleft lip and palate: from origin to treatment. Oxford: Oxford University Press: 127-158.
  • Murray JC, 2002. Gene/environment causes of cleft lip and/or palate. Clin Genet 61: 248-256.
  • Park JW, Cai J, McIntosh I, et al. 2006. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet 43: 598-608.
  • Rice DPC, 2005. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med: 699-722.
  • Sham PC, Curtis D, 1995. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59: 323-336.
  • Spielman RS, McGinnis RE, Ewens WJ, 1993. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus. Am J Hum Genet 52: 506-516.
  • Vasiliauskas A, Utkus A, Matulevičienė A, Linkevičienė L, Kučinskas V, 2004. The incidence of cleft lip and/or palate among newborns in Lithuania, 1993-1997. Acta medica Lituanica 11: 1-6.
  • Vieira AR, 2006. Association between the transforming growth factor alpha gene and nonsyndromic oral clefts: a HuGE review. Am J Epidemiol 163: 790-810.
  • Vieira AR, Avila JR, Daack-Hirsch S, et al. 2005. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 1: e64.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-article-96e53eb0-e7e4-4f5e-be52-6b475c6bd8b7
JavaScript jest wyłączony w Twojej przeglądarce internetowej. Włącz go, a następnie odśwież stronę, aby móc w pełni z niej korzystać.