Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil View PDF

^*Paulo A Otto
Department Of Genetics And Evolutionary Biology, Institute Of Biosciences, University Of São Paulo, Mexico

^*Corresponding Author:

Paulo A Otto
Department Of Genetics And Evolutionary Biology, Institute Of Biosciences, University Of São Paulo, Mexico
Email:otto@usp.br

Published on: 2016-08-16

Abstract

The present paper deals with the estimation of the overall frequency of ATP7B alleles determining Wilson disease (WD) and the population frequency of the condition in Brazil. Genealogical, demographic, and molecular data from 83 WD probands, studied at three distinct WD referral centers, were used for obtaining a population estimate for the overall frequency of alleles that in homozygous or compound heterozygous state determine the frequency of the condition in Brazil; the method we used exploits the relatively high proportion of consanguinity among parents of affected individuals compared with the proportion in the general population. The value we obtained for the overall allele frequency was q = 0.006, with a 95% bootstrap confidence interval of 0.004 to 0.012. The corresponding value for the disease incidence or frequency was P (WD) = 0.000041

Keywords

Wilson’s disease; Gene frequency estimation; ATP7B alleles; Disease incidence (frequency); Consanguinity rates

Introduction

Wilson disease (WD) is an inborn error of copper metabolism determined by autosomal recessive mechanism. Affected individuals are homozygous or compound heterozygous as to mutations occurring in the gene ATP7B (located at chromosome 13q14.3), that encodes a Ptype ATPase copper-transporting protein. Mutations on the ATP7B gene lead to a reduction in the conversion of apoceruloplasmin into holoceruloplasmin, an alpha-globulin which in normal conditions carries 95% of all copper present in the plasma.