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Genetic ancestry analysis in non-alcoholic fatty liver disease patients from Brazil and Portugal

World Journal of Hepatology 2015年第10期7卷 1433-1438页

作者： Lourianne Nascimento Cavalcante Jose Tadeu Stefano Mariana V Machado Daniel F Mazo Fabiola Rabelo kiyoko abe sandes Flair Jose Carrilho Helena Cortez-Pinto Andre Castro Lyra Claudia P de Oliveira Gastro-Hepatology Department Hospital Sao Rafael Division of Gastroenterology and Hepatology Department of GastroenterologyUniversity of Sao Paulo School of Medicine Department of Gastroenterology Laboratory of NutritionUniversity Hospital of Santa Maria University Life Sciences Department University of Bahia State Faculty of Medicine Federal University of Bahia

AIM:To study the association between genetic ancestry,non-alcoholic fatty liver disease(NAFLD) metabolic characteristics in two cohorts of patients,from Brazil and Portugal. METHODS:We included 131 subjects from Brazil [(n = 45 with simple steatosis(S. Steatosis) and n = 86 with nonalcoholic steatohepatitis(NASH)] and 90 patients from Portugal(n = 66,S. Steatosis; n = 24,NASH). All patients had biopsy-proven NAFLD. In histologic evaluation NAFLD activity score was used to assess histology and more than 5 points defined NASH in this study. Patients were divided into two groups according to histology diagnosis:simple steatosis or non-alcoholic statohepatitis. Genetic ancestry was assessed using real-time polymerase chain reaction. Seven ancestry informative markers(AT3-I/D,LPL,Sb19.3,APO,FYNull,PV92,and CKMM) with the greatest ethnicgeographical differential frequencies(≥ 48%) were used to define genetic ancestry. Data were analyzed using R PROJECTS software. Ancestry allele frequencies between groups were analyzed by GENEPOP onlineand the estimation of genetic ancestry contribution was evaluated by ADMIX-95 software. The 5% alpha-error was considered as significant(P abetes(NASH 56 ± 1.1 years old vs S. Steatosis 51 ± 1.5 years old,P = 3.7 x 10-9),dyslipidemia(NASH 63% vs S. Steatosis 37%,P = 0.009),higher fasting glucose levels(NASH 124 ± 5.2 vs S. Steatosis 106 ± 5.3,P = 0.001) and Homeostatic Model of Assessment index > 2.5 [NASH 5.3(70.8%) vs S. Steatosis 4.6(29.2%) P = 0.04]. In the Portuguese study population,dyslipidemia was present in all patients with NASH(P = 0.03) and hypertension was present in a larger percentage of subjects in the S. Steatosis group(P = 0.003,respectively). The genetic ancestry contribution among Brazilian and Portuguese individuals with NASH was similar to those with S. Steatosis from each cohort(Brazilian cohort:P = 0.75; Po

关键词： Ancestry Nonalcoholic fatty liver disease Simple steatosis Nonalcoholic steatohepatitis Admixed population

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