Show Notes
Yan X et al., The American Journal of Human Genetics, Corrected proof - In 569 TwinsUK subcutaneous adipose biopsies, twin models and GWAS identify SCD, FADS and 3p25.2 (PPARG) loci regulating fatty acid levels and conversions.
Study Highlights:
System and sample: 569 female TwinsUK subcutaneous adipose biopsies with matched serum, RNA-seq and 450K methylation data were analyzed. Key methods: gas chromatography fatty acid profiling, ACE twin heritability models, GWAS of 18 fatty acids and 15 product-to-precursor ratios, colocalization with adipose eQTLs and meQTLs, and polygenic score analysis. Main quantitative results: heritability of individual fatty acids ranged from 5%–59% while 15 fatty acid ratios were heritable and GWAS identified 10 genome-wide significant loci including SCD and FADS with the SCD lead variant explaining ~7–11% of variance and ratios showing heritability up to ~54%. Functional implication: colocalizations with adipose-specific eQTLs and meQTLs and associations between metabolic polygenic scores and fatty acid levels link local genetic regulation in adipose tissue to renal and cardio-metabolic phenotypes.
Conclusion:
Local genetic variation in adipose tissue, including SCD, FADS and a 3p25.2 locus near PPARG, regulates fatty acid composition and conversion and is connected to renal and cardio-metabolic traits.
Music:
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Reference:
Yan X., Roberts A.L., El-Sayed Moustafa J.S., Villicaña S., Al-Hilal M., Tomlinson M., Menni C., Sanders T.A.B., Freidin M.B., Bell J.T., Small K.S., Genetic regulation of fatty acid content in adipose tissue. The American Journal of Human Genetics 113, 1–18, February 5, 2026. https://doi.org/10.1016/j.ajhg.2025.12.008
License:
This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) - https://creativecommons.org/licenses/by/4.0/
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