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. 2020 Aug 25;11:936. doi: 10.3389/fgene.2020.00936

TABLE 4.

Genetic variants, associated with clinical subphenotypes.

Chr Pos (hg38) Ref Alt Variant Trait Cohort Model Association p-value Gene Strand Variant biological function
8 32614509-32614510 TT del NC_000008.11: g.32614509_32614510del Drug treatment response Depression Binomial logistic regression Absence of response on the 28th day assessed by HDRS-17 is associated with allele “del” 3.22E-04 NRG1 F Intronic, no obvious function
32648114 G C rs35641374 Time to recurrence of a depressive episode Cross disorder Linear regression Longer intervals between depressive episodes are associated with allele C 3.14E-06 Missense in five transcripts, Val > Leu, likely benign for protein function
Time to recurrence of a depressive episode Bipolar Longer intervals between depressive episodes are associated with allele C 4.37E-07
Time to recurrence of an episode Bipolar Longer intervals between episodes of any type are associated with allele C 3.43E-04
10 22541913 C T rs61731109 Drug treatment response Depression Binomial logistic regression absence of response on the 28th day assessed by HDRS-17 is associated with allele T (passed FDR, but not Bonferroni correction for multiple comparisons) 1.11E-03 PIP4K2A R Synonymous in all transcripts; allele A (reverse complement) may affect splicing (HumanSplicingFinder)
22573353 T C rs10508649 Drug treatment response Depression Binomial logistic regression Absence of response on the 28th day assessed by CGI-I scale is associated with allele C 9.43E-04 Synonymous in all transcripts; allele G (reverse compliment) may affect splicing (HumanSplicingFinder); found within enhancer GH10J022572 that regulates expression of PIP4K2A (GeneHancer)
Time to recurrence of a manic or mixed episode Bipolar Linear regression Longer intervals between manic or mixed episodes are associated with allele C 3.09E-04
X 114727001 A* G rs2248440 Severity Depression Ordinal logistic regression Higher severity of depression is associated with allele A 3.00E-03 HTR2C F Intronic; allele A decreases expression of IL13RA2 in putamen (GTEx)

Chr, chromosome; pos, position in the human genome; ref, reference allele; alt, alternate allele; used algorithms; * minor allele.