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Boua, P.R., Brandenburg, J.T., Choudhury, A., Sorgho, H., Nonterah, E.A., Agongo, G., Asiki, G., Micklesfield, L., Choma, S., Gómez-Olivé, F.X., Hazelhurst, S., Tinto, H., Crowther, N.J., Mathew, C.G., Ramsay, M., AWI-Gen Study and the H3Africa Consortium (2022) Genetic Associations with Carotid Intima-Media Thickness Link to Atherosclerosis with Sex-Specific Effects in Sub-Saharan Africans. Nature Communications, 13, Article No. 855.
https://doi.org/10.1038/s41467-022-28276-x

has been cited by the following article:

• TITLE: On the Different Ways to Handle the Trend of Disease Risk in Genetic Association Tests

  AUTHORS: Tapati Basak

  KEYWORDS: Association, Chi-Square, Trend Test, SNP, Genotype

  JOURNAL NAME: Open Journal of Statistics, Vol.12 No.4, August 19, 2022

  ABSTRACT: Genetic association studies usually apply the simple chi-square (χ2)-test for testing association between a single-nucleotide polymorphism (SNP) and a particular phenotype, assuming the genotypes and phenotypes are independent. So, the conventional χ2-test does not consider the increased risk of an individual carrying the increasing number of disease responsible allele (a particular genotype). But, the association tests should be performed with the consideration of this disease risk according to the mode of inheritance (additive, dominant, recessive). Practical demonstration of the two possible methods for considering such order or trends in contingency tables of genetic association studies using SNP genotype data is the purpose of this paper. One method is by pooling the genotypes, and the other is scoring the individual genotypes, based on the disease risk according to the inheritance pattern. The results show that the p-values obtained from both the methods are similar for the dominant and recessive models. The other important features of the methods were also extracted using the SNP genotype data for different inheritance patterns.