TITLE:
An Introduction to Basic Statistical Models in Genetics
AUTHORS:
Tapshir Jahan Setu, Tapati Basak
KEYWORDS:
Genetic Model, Association, GWAS, SNP, Case-Control Study
JOURNAL NAME:
Open Journal of Statistics,
Vol.11 No.6,
December
22,
2021
ABSTRACT: The use
of the three genetic models viz. additive, dominant and recessive in Genome-wide association study (GWAS) is a common
and powerful approach to study the association between genetic variants
and a trait (disease). The selection of these models depends on the pattern of
inheritance and the scope of the study. GWAS
typically focuses on single-nucleotide polymorphism (SNPs) and common
human diseases in a case-control setup. In order to study this type of
association between the risk genotype and the phenotype for a given inheritance
pattern, the use of these genetic models helps to identify the disease risk
appropriately. This study provides an overview of the existing genetic models
(additive, dominant and recessive) and a practical demonstration of these model
tests for the contingency tables of SNP genotypes and the disease phenotypes in
a case-control setting.