RESUMO
OBJECTIVE: To investigate whether the polymorphisms of insulin-like growth factor-1 (IGF-1) gene and its regulatory regions are associated with extreme high myopia. METHODS: A case-control analysis of 302 subjects with extreme high myopia and 401 controls was undertaken. Genomic DNA was obtained from peripheral blood. Seven tag single nucleotide polymorphisms (tSNP) across the IGF-1 gene region were selected to capture the majority of genetic variation. All tSNP were genotyped using the MassArray platform and MALDI-TOF analysis. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Statistical analyses were performed using the SPSS (version 13.0: SPSS Science, Chicago, IL) software. The genotype and allele frequencies were evaluated using the χ(2) tests and performed by Bonferroni corrections for multiple comparisons. The significance of the differences in the estimated haplotype frequencies between the myopia and control groups was examined on Haploview 4.2 using χ(2) tests, and haplotypes were corrected by using permutation test after running 50 000 times. RESULTS: Among seven different IGF-1 tSNP tested, the allele frequencies of four tSNP-rs5742629(A/G), rs12423791(G/C), rs35766 (G/A) and rs1457601(T/A) in the myopia and the control groups were A(56.5%, 62.3%)/G(43.5%, 27.7%), G(70.4%, 77.1%)/C(29.6%, 22.9%), G(33.9%, 28.8%)/A(66.1%, 71.2%), T(72.5%, 77.3%)/A(27.5%, 22.7%), respectively. And they showed significant differences (χ(2) = 4.968, 8.059, 4.250, 4.245, P < 0.05) between the two groups. However, only rs12423791 remained significance after Bonferroni correction. The haplotype GC of rs5742629-rs12423791 was associated with extreme high myopia (P = 0.033) after 50 000 permutations for multiple comparisons as well. CONCLUSIONS: The polymorphism of rs12423791 in IGF-1 may be associated with extreme high myopia in the Chinese population.
Assuntos
Fator de Crescimento Insulin-Like I/genética , Miopia/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Frequência do Gene , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
AIM: To assess the effect of myopia on the thickness of retinal nerve fiber layer (RNFL) measured by 3D optical coherence tomography (3D-OCT) in a group of nonglaucomatous Chinese subjects. METHODS: Two hundred and fifty-eight eyes of 258 healthy Chinese myopic individuals were recruited and four groups were classified according to their spherical equivalent (SE): low myopia (n=42, -0.5D
RESUMO
OBJECTIVES: To study the knowledge, attitude and practice (KAP) concerning asthma in parents of children with asthma and the related factors. METHOD: Questionnaire survey was conducted by using the multi-center research methods in twenty hospitals with asthmatic clinic or pediatric clinic in Beijing from August to October in 2008. The investigation focused on Beijing permanent residents with children who have been diagnosed as asthma for more than 6 months. RESULT: Totally 390 parents of asthmatic children were investigated among whom 351 provided valid questionnaires, the response rate reached 90.0%; 75.2% of the parents knew that the nature of asthma is a chronic allergic airway inflammatory disease; 54.4% of parents think that even if the child is in a state of asthma control he/she can participate in only mild exercise; 88.4% of parents consider that the long-term use of inhaled corticosteroid would have a mild effect on growth and development of children. Of the asthmatic children, 32.5% adhered to use inhaled corticosteroid prescription; 47.2% adhered to use leukotriene receptor modulator; 45.3% of parents of children with acute asthma attack will add antibiotics; 18.1% of parents would choose short-acting beta2-agonist. The multi-factors Logistic regression suggested that the parents' educational background and the frequency of referral in children with asthma under control may have an influences on the parents' KAP (P < 0.05, OR > 1). CONCLUSION: The general understanding of asthma in asthmatic children's parents in Beijing area is good, the higher the parents' educational background and revisit frequency of asthmatic children whose disease is under control, the better the Parents' KAP.