Professor Augustine Kong
Senior Group Leader in Genomic Epidemiology
- Professor of Statistical Genetics, Nuffield Department of Medicine
My research interests include, for humans, pedigree analysis, gene mapping, selection, recombination, de novo and somatic mutations, haplotype phasing, and parent of origin specific genetic effects.
One new area of research for my group is genotype-phenotype studies where genetic data on one or both parents of the proband – the phenotyped individual --- are available. Efforts include data analysis, methodology development, data acquisition, and theoretical investigations.
Most genotype-phenotype association studies do not include data on the parents of the probands. Our recent research indicates that, without taking into account parental genotypes, it is impossible to obtain valid answers to basic questions such as the nature of the observed associations and the heritability of many human traits.
It has been well appreciated that alleles in parents that are not transmitted to the offspring/proband can be used as controls for estimating the effects of transmitted alleles, eliminating confounding induced biases. In addition to that, our focus is on the scenario where the parental alleles, which include both the transmitted and non-transmitted ones, can have an effect on the proband through their effect on parental phenotypes, which constitute part of the environment of the proband. In other words, we aim to study the genetic component of nurture, the ‘nature of nurture’. Traits with a clear genetic nurturing component include educational attainment, reproduction phenotypes, health/nutrition related phenotypes, and some psychiatric/behavioural phenotypes. Introducing the genetic nurturing component can have profound implications for all aspects of genetic investigation and modelling. This investigation brings together multiple disciplines that include biological science, medical science, social science, economics, and evolutionary theory. Topics such as epigenetics, parent-of-origin effects, gender-specific effects, and assortative mating are all relevant.
In addition to Icelandic data that have been used to derive our current results, we plan to broaden our analyses to other existing data sets such as that of the UK Biobank and the ALSPAC longitudinal study of parents and offspring. We aim to shape data acquisition strategies so that parental genotypes become much more broadly available.
Studying the genetics of participation using footprints left on the ascertained genotypes.
Benonisdottir S. and Kong A., (2023), Nature genetics
Mendelian imputation of parental genotypes improves estimates of direct genetic effects.
Young AI. et al, (2022), Nature genetics
Deconstructing the sources of genotype-phenotype associations in humans.
Young AI. et al, (2019), Science, 365, 1396 - 1400
Multiple transmissions of de novo mutations in families.
Jónsson H. et al, (2018), Nature genetics, 50, 1674 - 1680
Relatedness disequilibrium regression estimates heritability without environmental bias.
Young AI. et al, (2018), Nature genetics, 50, 1304 - 1310