What question did this study set out to answer?

To systematically determine whether common human genetic variation influences circulating levels of clinically relevant proteins in human serum and plasma.

May 8, 2008SHILAP Revista de lepidopterologíaOpen Access

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

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To systematically determine whether common human genetic variation influences circulating levels of clinically relevant proteins in human serum and plasma.
Evaluated 496,032 genetic polymorphisms against serum and plasma concentrations of 42 clinically relevant proteins in 1,200 fasting individuals from the population-based InCHIANTI cohort.
Profiled biomarkers associated with metabolic, inflammatory, and infectious diseases, including insulin, interleukins, chemokines, adipokines, and liver function enzymes.
Identified eight cis-regulatory associations near IL6R (p = 1.8x10⁻⁵⁷), CCL4L1 (p = 3.9x10⁻²¹), IL18 (p = 6.8x10⁻¹³), LPA (p = 4.4x10⁻¹⁰), GGT1 (p = 1.5x10⁻⁷), SHBG (p = 3.1x10⁻⁷), CRP (p = 6.4x10⁻⁶), and IL1RN (p = 7.3x10⁻⁶), with effect sizes from 0.19 to 0.69 standard deviations per allele.
Observed distinct biological mechanisms driving cis associations, including altered receptor cleavage rates, differential protein secretion, copy number variation, and altered transcription.
Identified one putative trans association between ABO blood group variants and tumor necrosis factor-alpha (p = 6.8x10⁻⁴⁰) that failed to replicate across different assay platforms.

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Implication

Genome-wide association study reveals common genetic variants regulating circulating protein levels in fasting adults, highlighting biological mechanisms driving complex disease pathways.

Cite This Study

Melzer et al. (2008) studied this question.

synapsesocial.com/papers/69da084c0d540cafc5838256 https://doi.org/10.1371/journal.pgen.1000072

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Implication

Genome-wide association study reveals common genetic variants regulating circulating protein levels in fasting adults, highlighting biological mechanisms driving complex disease pathways.

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

Key Points

Discussion

Implication

Cite This Study

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

Key Points

Discussion

Implication

Cite This Study

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