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Table 2 Sexual dimorphisms in mice lacking enzymes that participate in formation of bile acids with clinical phenotypes in humans (differences between sexes not considered in these studies)

From: The influence of biological sex and sex hormones on bile acid synthesis and cholesterol homeostasis

Bile Acid Synthetic EnzymePhenotype in knockout in terms of BAs & cholesterolHuman phenotype when gene is mutated
CYP7A1Lithogenic composition of gallstones with increased dietary cholesterol in females [30]Statin-resistant hypercholesterolemia [28]
BA pool - larger in females [30]
BA pool composition - higher CA in females [30]
Hepatic cholesterol accumulation with increased dietary cholesterol in females (males not reported) [31]94% reduction in fecal BA excretion [28]
Maternal consumption of high fat diet results in male offspring with lower expression than females [33]Premature atherosclerosis [28]
CYP8B1BA pool increases in male more dramatically than in females [3] 
Greater compensatory response by CYP7A1 in female knockout, resulting in increased CDCA [3]
CYP27A1Sex differences not reported [55, 59]Cerebrotendinous xanthomatosis [55]
Vascular and muscle cholesterol deposition [60]
ARK1D1Higher hepatic BA concentration and lean phenotype in males [69] 
CYP3A4Sex differences not reported in genome-edited rats [75]