RESUMEN
Dietary exposure of the Hong Kong adult population to organochlorine pesticide (OCP) residues was estimated using a total diet study (TDS) approach. OCPs listed under the Stockholm Convention as persistent organic pollutants (POPs) including, aldrin, dieldrin, chlordane, chlordecone, dichlorodiphenyltricholroethane (DDT), endosulfan, endrin, heptachlor, hexachlorobenzene (HCB), α-hexachlorocyclohexanes (HCH), ß-HCH, lindane, mirex, pentachlorobenzene and toxaphene, were studied. Out of 600 composite samples, 55% contained one or more OCP residues at detectable levels. The most commonly detected OCP was DDT (32% of all composite samples), followed by HCB (30%) and endosulfan (22%). The lower- and upper-bound mean exposure estimates of OCP residues ranged from 0% to 0.5% and were 0.1-8.4% of their respective health-based guidance values (HBGVs). The lower- and upper-bound 95th percentile exposure estimates ranged from 0% to 1.2% and were 0.1-13.6% of their respective HBGVs. This indicated that dietary exposures to the OCP residues analysed would be unlikely to pose unacceptable health risks to Hong Kong adults.
Asunto(s)
DDT/análisis , Dieta , Exposición a Riesgos Ambientales/análisis , Hexaclorobenceno/análisis , Residuos de Plaguicidas/análisis , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Análisis de los Alimentos , Hong Kong , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenAsunto(s)
Haplotipos/genética , Enfermedad de Hirschsprung/epidemiología , Enfermedad de Hirschsprung/genética , Proteínas Oncogénicas/genética , Proteínas Tirosina Quinasas Receptoras/genética , Pueblo Asiatico/genética , Estudios de Casos y Controles , China/epidemiología , Genética de Población , Genotipo , Enfermedad de Hirschsprung/etnología , Humanos , Desequilibrio de Ligamiento/genética , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Proteínas Proto-Oncogénicas c-retRESUMEN
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder characterised by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Manifestation of the disease has been linked to mutations in genes that encode the crucial signals for the development of the enteric nervous system-the RET and EDNRB signalling pathways. The Phox2b gene is involved in neurogenesis and regulates Ret expression in mice, in which disruption of the Phox2b results in a HSCR-like phenotype. AIMS: To investigate the contribution of PHOX2B to the HSCR phenotype. METHODS: Using polymerase chain reaction amplification and direct sequencing, we screened PHOX2B coding regions and intron/exon boundaries for mutations and polymorphisms in 91 patients with HSCR and 71 ethnically matched controls. Seventy five HSCR patients with no RET mutations were independently considered. Haplotype and genotype frequencies were compared using the standard case control statistic. RESULTS: Sequence analysis revealed three new polymorphisms: two novel single nucleotide polymorphisms (A-->G(1364); A-->C(2607)) and a 15 base pair deletion (DEL(2609)). Statistically significant differences were found for A-->G(1364). Genotypes comprising allele G were underrepresented in patients (19% v 36%; chi(2)=9.30; p=0.0095 and 22% v 36%; chi(2)=7.38; p=0.024 for patients with no RET mutations). Pairwise linkage disequilibrium (LD) analysis revealed no LD between physically close polymorphisms indicating a hot spot for recombination in exon 3. CONCLUSION: The PHOX2B A-->G(1364) polymorphism is associated with HSCR. Whether it directly contributes to disease susceptibility or represents a marker for a locus in LD with PHOX2B needs further investigation. Our findings are in accordance with the involvement of PHOX2B in the signalling pathways governing the development of enteric neurones.