predominance in Asians. Recent studies have identified mutations in the genes encoding for c-Secretase protein and its subunits in patients with HS. A study of 53 Chinese patients with familial… Click to show full abstract
predominance in Asians. Recent studies have identified mutations in the genes encoding for c-Secretase protein and its subunits in patients with HS. A study of 53 Chinese patients with familial HS and confirmed nicastrin mutations (a protein subunit of c-Secretase) found that 62.2% were males. c-Secretase mutations have also been identified in Caucasians, although only in a minority of patients. Further studies to compare the frequency and prevalence of c-Secretase mutations in various ethnicities would be useful in understanding ethnic and genderspecific differences. This observation of a male predominance in recent Asian studies is interesting and requires further study, including a meta-analysis of epidemiological studies with a multivariable analysis to explore the potential factors that may influence the gender ratio. Upcoming genetic and metabolomics-related research will further add to the growing knowledge of the genetics and pathophysiology of HS.
               
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