Does geographical location influence the phenotype of Fabry disease in women in Europe
作者： M-Ã Barba-Romero , P Deegan , R Giugliani , D Hughes
DOI: 10.1111/J.1399-0004.2009.01345.X
关键词:
摘要: This study examines the relationship between phenotype and geographical location of patients with Fabry disease in Europe. Data were taken from enrolled Outcome Survey (FOS), as October 2007. A modified version Mainz Severity Score Index (FOS-MSSI) was used to classify according severity disease. European grouped depending on country residence (northern or southern countries). Results are presented 762 FOS Europe (357 men 405 women); 66% lived northern 34% countries. Median age at onset symptoms similar both sexes. No differences seen among men, place residence; however, women living countries had higher scores (p < 0.001) than those In women, FOS-MSSI increased age, irrespective residence. The results suggest that expression different phenotypic features may be influenced by extra-genetic epigenetic factors. These factors might related dietary environmental influences differ patient's
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