Thyroid disease

Novel Causal Plasma Proteins for Hypothyroidism: A Large-scale Plasma Proteome Mendelian Randomization Analysis

J Clin Endocrinol MetabPublished Mendelian randomization study

Authors' conclusion

Thirteen various proteins were identified and validated to be associated with hypothyroidism using univariable MR. We reinforced and expanded the effect of IFN on hypothyroidism. Several proteins identified in this study could explain part of the association between the coagulation system and hypothyroidism. Our study broadens the causal proteins for hypothyroidism and provides the relationships between plasma proteins and hypothyroidism. The proteins identified in this study can be used as early screening biomarkers for hypothyroidism.

Study context

Outcome
Causal plasma proteins for hypothyroidism
Methodological detailslarge-scale plasma proteome, pQTLs for 2297 plasma proteins, discovery and validation cohorts, colocalization and enrichment analysis
  • Large-scale plasma proteome
  • pQTLs for 2297 plasma proteins
  • Discovery and validation cohorts
  • Colocalization and enrichment analysis

Performance

As reported in the abstract

Proteins identified in discovery cohort

31

Proteins validated in validation cohort

13

Risk proteins: ISG15, Fc receptor-like protein 2, TNF ligand superfamily member 14, Rab-2A, FcRL3, thrombomodulin, IFN-lambda-1, platelet glycoprotein Ib alpha chain, IL-7RA

9

Further findings

Colocalization of POGLUT1 with expression QTLs

Whole blood PP4
0.978
Thyroid PP4
0.978

Colocalization of IFN-lambda-1 trans-pQTLs with hypothyroidism

rs2111485 PP4
0.998
rs35103715 PP4
0.998

Original publication

Novel Causal Plasma Proteins for Hypothyroidism: A Large-scale Plasma Proteome Mendelian Randomization Analysis. J Clin Endocrinol Metab. Published 3 October 2022. doi:10.1210/clinem/dgac575

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