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Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation

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Published on: September 6, 2017

A PheWAS approach in studying HLA-DRB1*1501.

S J Hebbring¹, S J Schrodi, Z Ye

¹Department of Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA. hebbring.scott@mcrf.mfldclin.edu

Genes and Immunity

|February 9, 2013

Summary

This summary is machine-generated.

The HLA-DRB1*1501 genetic variant, linked to multiple sclerosis (MS), was also strongly associated with alcohol-induced liver cirrhosis in a large-scale phenome-wide association study (PheWAS). This research highlights novel associations and validates the PheWAS approach.

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Immunopeptidomics: Isolation of Mouse and Human MHC Class I- and II-Associated Peptides for Mass Spectrometry Analysis

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Published on: October 15, 2021

Area of Science:

Genetics
Immunology
Computational Biology

Background:

The Human Leukocyte Antigen (HLA) complex plays a crucial role in immune responses.
Genetic variations within the HLA-DRB1 gene are implicated in various autoimmune diseases.
The HLA-DRB1*1501 haplotype is a known risk factor for multiple sclerosis (MS).

Purpose of the Study:

To investigate the association of the rs3135388 genotype, which tags the HLA-DRB1*1501 haplotype, with a wide range of health phenotypes.
To validate the utility and feasibility of the phenome-wide association study (PheWAS) approach using external data.
To explore potential novel associations of the HLA-DRB1*1501 locus beyond known autoimmune links.

Main Methods:

A phenome-wide association study (PheWAS) was conducted using electronic health records from 4235 individuals.
The study analyzed the association between the rs3135388 genotype (tagging HLA-DRB1*1501) and 4841 distinct phenotypes.
Statistical analyses were performed to identify significant genotype-phenotype associations, including those for multiple sclerosis and other conditions.

Main Results:

The expected association between HLA-DRB1*1501 and multiple sclerosis (ICD9 340) was confirmed (P=0.023).
The strongest association identified was between HLA-DRB1*1501 and alcohol-induced cirrhosis of the liver (ICD9 571.2, P=0.00011).
Additional significant associations were found with erythematous conditions (ICD9 695, P=0.0054) and benign respiratory neoplasms (ICD9 212, P=0.042).

Conclusions:

The study successfully validated the PheWAS approach as a powerful tool for genetic discovery.
The findings reveal a significant association between the HLA-DRB1*1501 locus and alcohol-induced liver cirrhosis, suggesting a broader role beyond autoimmunity.
This research underscores the complex genetic underpinnings of the HLA-DRB1*1501 locus and its potential involvement in diverse pathologies.