作者: M.F. Faienza , F. Marzano , A.M. Ventura , M. Wasniewska , M. Valenzise
DOI: 10.1016/J.GHIR.2011.09.003
关键词: Single-nucleotide polymorphism 、 Promoter 、 Fetus 、 Small for gestational age 、 Biology 、 Internal medicine 、 Variable number tandem repeat 、 Endocrinology 、 Gene expression 、 Short stature 、 IGFBP3
摘要: Abstract Objective Approximately 6% of newborns at term are small for gestational age (SGA) and present a birth weight and/or length less than − 2SD from the mean. SGA infants increased risk perinatal morbidity, associated psychological mental problems, persistent short stature (about 15% subjects) metabolic alterations. Insulin-like growth factors (IGFs), their common receptor (IGF1R) binding proteins (IGFBPs) play critical role in fetal postnatal growth. In these genes polymorphisms, such as single nucleotide polymorphisms variable number tandem repeats, have been investigated with conflicting results respect to SGA-related outcomes, functional gene variants remains be elucidated. Design The study group consisted 100 pre-pubertal children born 94 healthy controls, matched sex age, recruited Department Biomedicine Development Age Bari University Paediatric Messina Hospital. we analyzed allelic frequency − 795 G/A, − 667 − 396 C/T IGFBP3 influence on basal insulin-stimulated transcriptional activity gene. Results We found that G/A promoter region capable having an effect gene, although opposing effects. Interestingly, polymorphism has negative impact transcription, while determines increase promoter. correlates lower children. Most importantly, diminished induced by − 667A was significantly recovered after insulin administration (p-value Conclusions Altogether our demonstrated