Thread by @thatdnaguy

#ASHG21 YH: Yingbo Huang.
Sex differences in the expression and genetic regulation of drug metabolism and transporter genes in human liver.
@YingboHuang

#ASHG21 YH: sex differences exist in many different traits. this includes drug responses.

#ASHG21 YH: sex as a biological variable is therefore important to study. GWAS alleles can show sex-biased gene expression in tissue-dependent manner. Drug metabolism and transporter (DMT) genes impact human health, and may have sex bias.

#ASHG21 YH: Looked at DMET genes in GTEx liver. Identified several with sex biased expression. Top hits. include a UGT and SLC [editorial not to look at the ggrepel R package to avoid dot/label overlap].

#ASHG21 YH: Wanted to do sex stratified eQTL mapping. Might find sex-specific effect, i.e. one sex only. Or a sex differential effect, i.e. response in both, but more in one. Or sex opposing effects, i.e. effect in both but opposing directionality.

#ASHG21 YH: sex specific eQTLs: UGT1A3, UGT2817, ADH1C, VKORC1, PON1, ALDH2, VKORC1.

#ASHG21 YH: rs4860987 and UGT2B17. SNP behaves differently between sexes.

#ASHG21 YH: Looked at genetic heterogeneity of SNPs. Assess the difference of the genetic effect between two groups, so compared female and male. Identified 452 drug side effect traits in UKBB with GWAS summary stats.

#ASHG21 YH: 40 traits have at least one SNP with sex differences. Gout example with ABCG2. Only one significant loci in females. 2 in males. In males ABCG2, which is a urate transporter.