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2017 ; 22
(ä): 32
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The recurrence risk of genetic complex diseases
#MMPMID28461818
Bijanzadeh M
J Res Med Sci
2017[]; 22
(ä): 32
PMID28461818
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Complex inherited diseases affected by an interaction between collective effects
of the genotype at one or multiple loci either to increase or to lower
susceptibility to disease, combined with a variety of environmental exposures
that may trigger, accelerate, exacerbate, or protect against the disease process.
The new aspects of genetic techniques have been opened for diagnosis and analysis
of inherited disorders. While appropriate Mendelian laws is applied to estimate
the recurrence risk of single gene diseases, using empirical recurrence risks are
the most important and available method to evaluate pedigree of complex
(multifactorial), chromosomal, and unknown etiology disorders. Although,
generally, empirical recurrent risks are not accurate, either because of the
difference of gene frequencies and environmental factors among populations or
heterogeneity of disease; using results of plenty family population studies,
computerized estimating programs, genotyping technologies, and Genome-wide
association studies (GWASs) of single nucleotide polymorphisms (SNPs), can make
it possible nowadays to estimate these risks. The specific family situation and
importance recurrence risks of some common complex genetic diseases will be
presented in this review and some important multifactorial disorders' recurrence
risks will be summarized to help genetic counselors for supporting families and
representing better view of genetic disorders.
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