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1.
Nat Genet ; 45(7): 804-7, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23749188

RESUMEN

To identify genetic risk factors underlying non-Hodgkin lymphomas (NHLs) from the B cell lineage, we conducted a genome-wide association study (GWAS) of 253 Chinese individuals with B cell NHL (cases) and 1,438 controls and further validation in 1,175 cases and 5,492 controls. We identified a new susceptibility locus, rs6773854, located between BCL6 (encoding B cell lymphoma protein 6) and LPP (encoding lipoma preferred partner) on oncogene-rich chromosome 3q27 that was significantly associated with increased risk of B cell NHL (meta-analysis P = 3.36 × 10⁻¹³, per-allele odds ratio (OR) = 1.44) and with diffuse large B cell lymphoma (DLBCL) in particular (meta-analysis P = 1.14 × 10⁻¹¹, OR = 1.47). We found no evidence of association of rs6773854 with non-B cell NHLs (T cell and natural killer (NK) lineages) (P = 0.17, OR = 1.12) and observed significant heterogeneity between B cell and non-B cell subtypes (Phet = 0.01, I² = 84%). Our results provide insight that germline variation in the intergenic region between BCL6 and LPP has a role in risk of B cell lymphomagenesis.


Asunto(s)
Cromosomas Humanos Par 3/genética , Sitios Genéticos , Predisposición Genética a la Enfermedad , Linfoma de Células B/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico/genética , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Linfoma de Células B/etnología , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/fisiología , Estudios de Validación como Asunto , Adulto Joven
2.
J Paediatr Child Health ; 49(3): 223-7, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23437783

RESUMEN

AIM: Atrioventricular septal defect (AVSD) is widely accepted as the most common type of congenital heart defect in trisomy 21. Most of these studies, however, were conducted in Caucasian communities. The few Asian studies that had been conducted on this subject yielded different results. In the largest study of its kind in Asia, we described the distribution of types of congenital heart defects associated with trisomy 21 in Singapore. METHODS: Five hundred and eighty-eight patients with trisomy 21 born in 1996-2010, and confirmed by karyotyping, were included in the study. The diagnosis of congenital heart defects were made on echocardiography. Variables extracted for analysis were demographics (race and gender) and the types of congenital heart defects. Except for complex cyanotic heart defects, haemodynamically significant lesions were accounted for separately in cases where more than one type of congenital heart defect coexisted in a patient. RESULTS: Ventricular septal defect (VSD) (39.2%) was the most common congenital heart defect associated with trisomy 21 in our study, followed by patent ductus arteriosus (34.3%), secundum atrial septal defect (23.4%) and AVSD (15.6%). This study validates previous smaller Asian studies identifying VSD as the most common cardiac lesion associated with trisomy 21. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs. Coarctation of the aorta was uncommon. CONCLUSION: VSD was the most common congenital heart defect seen in trisomy 21 in our study. A high proportion (25.0%) of trisomy 21 patients with tetralogy of Fallot also had AVSDs.


Asunto(s)
Síndrome de Down/epidemiología , Cardiopatías Congénitas/clasificación , Cardiopatías Congénitas/epidemiología , Síndrome de Down/genética , Ecocardiografía , Femenino , Cardiopatías Congénitas/genética , Humanos , Masculino , Estudios Retrospectivos , Singapur/epidemiología
3.
Ann Acad Med Singap ; 39(2): 146-9, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20237738

RESUMEN

INTRODUCTION: The aim of this study was to compare the knowledge and practices of household mosquito-breeding control measures between a dengue hotspot (HS) and a non-hotspot (NHS). MATERIALS AND METHODS: Eight hundred households were randomly sampled from HS and NHS areas, and an National Environment Agency (NEA) questionnaire was administered to heads of the households. Interviewers were blinded to the dengue status of households. We included subjects aged above 16 years, who were communicative and currently living in the household. Chi-square test was used to compare proportions and multiple logistic regression was used to adjust for socio-demographic differences between both areas. RESULTS: The overall response rate was 59.0% (n = 472). There were significant differences in gender, educational level, employment status and housing type between HS and NHS (all P <0.05). NHS residents were less knowledgeable in 6 out of 8 NEA-recommended anti-mosquito breeding actions: changing water in vase/bowls [AOR (adjusted OR), 0.20; CI, 0.08-0.47; P <0.01], adding sand granular insecticide to water [AOR, 0.49; CI, 0.31-0.71; P <0.01], turning over pails when not in use [AOR, 0.39; CI, 0.17-0.89; P = 0.02], removing flower pot/plates [AOR, 0.35; CI, 0.18-0.67; P <0.01], removing water in flower pot/plates [AOR, 0.36; CI, 0.17-0.75; P <0.01] and putting insecticide in roof gutters [AOR 0.36; CI, 0.13-0.98; P = 0.04]. Hotspot residents reported better practice of only 2 out of 8 NEA-recommended mosquito-breeding control measures: changing water in vases or bowls on alternate days [AOR, 2.74; CI, 1.51-4.96; P <0.01] and removing water from flower pot plates on alternate days [AOR, 1.95; CI, 1.01-3.77; P = 0.05]. CONCLUSION: More HS residents were knowledgeable and reported practicing mosquito-breeding control measures compared to NHS residents. However, a knowledge-practice gap still existed.


Asunto(s)
Dengue/prevención & control , Conocimientos, Actitudes y Práctica en Salud , Vivienda , Control de Mosquitos/métodos , Adulto , Estudios Transversales , Dengue/epidemiología , Femenino , Humanos , Masculino , Singapur/epidemiología
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