Analyses of data from more than 200,000 individuals identify phenotypic features associated with carrying variants in autism-associated genes, in individuals with and without a diagnosis of autism ThomasRolland75 ThomasBourgeron GHFC_lab
We performed ordinal logistic regression analyses for autism status using the below formula. The same formula was used for autism status and cognitive impairment in the iPSYCH replication sample.
We performed linear regression analyses for fluid intelligence score and Townsend deprivation index on UK Biobank individuals using the following formula: $$\begin{array}{rcl}{\mathrm{Response}} & \sim & {{{\beta}}}_{1}{\mathrm{LoF}}+{{{\beta}}}_{2}{\mathrm{PGS}}+{{{\beta}}}_{3}{\mathrm{sex}}+{{{\beta}}}_{4}{\mathrm{LoF}}\times {\mathrm{PGS}}\\&&+\,{{{\beta}}}_{6}{\mathrm{age}}+{{{\beta}}}_{7}{\mathrm{PC}}1+{{{\beta}}}_{8}{\mathrm{PC}}2+{{{\beta}}}_{9}{\mathrm{PC}}3+{{{\beta}}}_{10}{\mathrm{PC}}4+\varepsilon\end{array}$$
Multivariable linear regressions were performed separately for each 68 cortical regions and 16 subcortical regions using the following formula, adding the total measure for each metric as a covariate: $$\begin{array}{rcl}{\rm{Response}} & \sim & {\beta}_{0}+{\beta}_{1}{\rm{LoF}}+{\beta}_{2}{\rm{PGS}}+{\beta}_{3}{\rm{sex}}+{\beta}_{4}{\rm{age}}+{\beta}_{5}{\rm{LoF}}:{\rm{PGS}}\\&& +\,{\beta}_{6}{\rm{LoF}}:{\rm{sex}}+{\beta}_{7}{\rm{LoF}}:{\rm{age}}+{\beta}_{8}{\rm{sex}}:{\rm{age}}+{\beta}_{9}{\rm{age}}^{2}\\ &&+\,{\beta}_{10}{\rm{site}} +\,{\beta}_{11}{\rm{trauma}}/{\rm{Townsend}}\,{\rm{index}}\\...
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