Fig. 3
From: Both rare and common genetic variants contribute to autism in the Faroe Islands
Genetic recessive mutations in Faroese individuals with autism. a Distribution of the inbreeding coefficient in Faroese individuals (one-sided Mann Whitney U-test: nautism = 36, ncontrol = 176, nsibling = 30; Ucontrol.vs.autism = 2500, pcontrol.vs.autism = 0.023; Ucontrol.vs.sibling = 1995, pcontrol.vs. sibling = 0.016; sibling inbreeding coefficients were averaged out by family; P-values were adjusted for principal component ancestry (3 principal components); *indicates the one withstanding Bonferroni correction for two paired comparisons). b. Number of rare LGD + MIS30 homozygous mutations carried per individual (one-sided Mann Whitney U-test: nautism = 36, ncontrol = 107, nsibling = 28; Ucontrol.vs.autism = 1305, pcontrols.vs.autisms = 0.011; sibling number of rare SNV were averaged out by family; P-values were adjusted for inbreeding; * indicates the one withstanding Bonferroni correction for two paired comparisons). c Venn diagram of the genes carrying the variants from b. Genes names are in bold and annotated when they are part of our gene-set lists (SFARI genes, pLI > 0.9 genes and Brain genes, see methods section). The plot on the right shows the proportion of individuals in each category carrying at least one mutated gene in our gene-sets lists (Fisher’s exact test: pcontrols.vs.autisms = 0.03; pcontrols.vs. siblings = 0.03). Error bars represent standard error. d and e are describing two specific families carrying multiple variants. “0” and “1” refer to wildtype or mutated allele, respectively. The localizations of the variants are indicated along the proteins and alignments throughout species showed the strong conservation of the altered amino acids. Nb Number, SNV Single Nucleotide Variant, LGD likely gene disruptive, MIS30 missense variants with CADD score ≥30, IgD immunoglobulin domain, TIL Trypsin Inhibitor-like, FA5/8 C Coagulation factor 5/8 type C domain, LamG Laminin G domain, EGF epidermal growth factor like domain, Fibr. Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain, AAA ATPases associated domains
