2004
DOI: 10.1186/1471-2350-5-15
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Analysis of polymorphic TGFB1codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults

Abstract: Background: Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in the prodomain of the transforming growth factor β1 (TGF-β1) gene have proved to be crucial to predisposition of several disorders.

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Cited by 24 publications
(19 citation statements)
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“…On the contrary, Holla et al [25] could not find any significant difference in +915G/C polymorphism between CP and controls in Caucasian subjects of Czech nationality. The Table 4 Clinical characteristics of CP and G-AgP patients based on the positivity of the TGF-β1 +915C allele CP with C allele (C+) CP without C allele (C−) p G-AgP with C allele (C+) G-AgP without C allele (C−) p frequencies of +915G/C genotypes in control subjects (52.5%) of the present study were higher than the frequencies observed in other studies in healthy Caucasians [12,18,25]. Our data show that +915G/C heterozygote subjects are common in Turkish population.…”
Section: Discussioncontrasting
confidence: 83%
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“…On the contrary, Holla et al [25] could not find any significant difference in +915G/C polymorphism between CP and controls in Caucasian subjects of Czech nationality. The Table 4 Clinical characteristics of CP and G-AgP patients based on the positivity of the TGF-β1 +915C allele CP with C allele (C+) CP without C allele (C−) p G-AgP with C allele (C+) G-AgP without C allele (C−) p frequencies of +915G/C genotypes in control subjects (52.5%) of the present study were higher than the frequencies observed in other studies in healthy Caucasians [12,18,25]. Our data show that +915G/C heterozygote subjects are common in Turkish population.…”
Section: Discussioncontrasting
confidence: 83%
“…The Thr263ILe polymorphism is located in exon 5 which encodes for the TGF-β1 proprotein [12]. Substitution of the polar amino acid threonine by the apolar isoleucine at codon 263 affects the stability and the activation process of TGF-β1 leading to reduced serum concentration of latent and subsequently active TGF-β1 [13,18].…”
Section: Introductionmentioning
confidence: 99%
“…The C-509T, T869C, and G915C polymorphisms have been show to be associated with the soluble TGF-b1 (sTGF-b1) serum levels [10]. Further, the homozygous G915G genotype (Arg25Arg) was associated with higher sTGF-b1 serum levels than heterozygous G915C genotype (Arg25Pro) [13,14]. The G915C TGF-b1 polymorphism has been studied in several diseases such as myocardial infarction and stroke [11], systemic lupus erytematosus [12], non-syndromic cleft lip, alveolus, and palate (CLPs) [13], juvenile idiopathic arthritis [14], ankylosing spondylitis [15], human longevity [16], and primary Sjögren's syndrome [17].…”
Section: Introductionmentioning
confidence: 98%
“…Three single-nucleotide polymorphisms within the promoter TGF-b1 gene have been identified: C-988A, G-800A, and C-509 T. In addition, a C insertion at position ?72 of the non-translated region, two polymorphisms in the signal peptide sequence at positions T869C (Leu10Pro) and G915C (Arg25Pro), and other in the precursor part of the protein C788T (Thr263Ile) have been identified [10][11][12][13]. The C-509T, T869C, and G915C polymorphisms have been show to be associated with the soluble TGF-b1 (sTGF-b1) serum levels [10].…”
Section: Introductionmentioning
confidence: 99%
“…Bioceramics, such as hydroxyapatite (HA) and beta tri-calcium phosphate (β-TCP), possess two of the ideal characteristics for grafting procedures: osteoconduction and osseointegration [1]. Pure HA has great osteoconductive properties, ability to support the growth of bone over the implant surface, and chemical composition comparable to the inorganic component of bone [2].…”
Section: Introductionmentioning
confidence: 99%