ABSTRACT
Objective To explore the association of MTHFR C677T polymorphism and birth body mass with the vulnerability of autism in Chinese Han population. Methods Totally 1 505 children with au-tism have been recruited,using the diagnosis and statistical manual,4th revised version ( DSM-IV-R) diag-nostic criteria for autism. And 1 308 healthy control subjects sex matched with the children with autism were enrolled for the study. All the participants were identified the birth body mass ( kg) according to the birth medical recording. All the subjects were examined the MTHFR C677T genotypes,using the polymerase chain reaction- restrict fragment length polymorphism (PCR-RFLP) methods. The frequencies of genotypes,alleles and birth body mass were compared between autism and healthy control groups using the chi-square and other tests. Results The MTHFR C677T (P=0. 004,OR=1. 18,95% CI=1. 02-1. 29),low birth body mass (<2. 5 kg) (P=0. 001,OR=1. 04,95%CI=1. 02-1. 06),and their interactive effects ( P=0. 0001,OR=2. 18,95%CI=1. 44-3. 32) were associated with the vulnerability of autism. Conclusions The MTHFR C677T polymorphism,low birth body mass and their interactive effects might be associated with susceptibility of autism in Chinese Han population.
ABSTRACT
Objective To study the expression of the imprinted gene H19 and IGF-Ⅱ in newborn placenta,and to discuss its influence on the birth body mass of the neonate. Methods The fresh placental tissues from full-term newborn (without trimester of pregnancy complica-tion and placenta and funic abnormality) with normal,high and low birth body mass (12,10 and 8 samples respectively)were collected. The expression of imprinted gene H19 and IGF-Ⅱ mRNA in the placenta were estimated by reakime fluorescence quantitative PCR Results The ex-pression of H19 mRNA in the placenta was negative correlation to the birth body mass (r =-0.403,P = 0.027).The expression of of IGF-H mRNA was positive correlated to the birth body mass (r = 0.444,P = 0.014). The H19 mRNA expression level in the high birth weight neonates (0.21 0.31) was significantly lower than that in the low birth body mass neonates (1.51 2.04)(P= 0.013). But the expression level of IGF-Ⅱ mRNA in the high birth body mass neonates (2.67±3.41) was significantly higher than that in the low birth body mass neonates (0.39±0.33)(P =0.013). Conclusion The expression of H19 and IGF-Ⅱ mRNA was significantly different in the placenta of normal,high and low birth body mass newboms. These two genes may be related to the birth body mass,and there may be some realation-ship between these two genes.