Genetic risk for lupus tied to ancestry

August 4, 2017 by Will Doss, Northwestern University
Credit: CC0 Public Domain

Northwestern Medicine collaborated with international colleagues in a study that identified two dozen new genes linked to lupus after analyzing genetic samples from over 27,000 individuals across the globe.

The study, published in Nature Communications, was co-authored by Rosalind Ramsey-Goldman, MD, DrPH, the Solovy/Arthritis Research Society Research Professor of Medicine in the Division of Rheumatology, part of a group of authors from more than 70 universities.

"These new observations will help direct future research to better diagnose and treat the disease while also providing insights into why lupus disproportionately affects certain ethnicities at higher rates and more severely," said Ramsey-Goldman, also a member of the Robert H. Lurie Comprehensive Center Cancer and Northwestern University Clinical and Translational Sciences Institute.

Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women during their childbearing years, and is more common in African-American, Native American and Hispanic patients. In SLE, the immune system produces antibodies that cause inflammation and damage the body's own organs and tissues, but it can be difficult to diagnose because its symptoms are similar to those of other immune system diseases.

The study revealed 24 genomic regions that contribute to an accelerating pattern of risk for SLE, leading the investigators to propose what they call the "cumulative hit hypothesis."

According to the authors, an immune system can normally absorb the effect of a modest amount of these risky genes, but as the number of genes climbs the immune system becomes overwhelmed—resulting in disorders such as SLE.

The ancestral distribution of these genes may explain the ethnic disparities in SLE, according to the study. One cluster of risky has a greater frequency in people with African-American ancestry, a population with a higher incidence of SLE. On the other hand, a different risky cluster was less common in those with a mix of African-American and Central European ancestry, reflecting how a complex demographic history can affect the risk of developing SLE.

"There is a genetic predisposition to developing lupus and this study will help scientists decipher the heterogeneous manifestations of the , which is hard to diagnose and treat," Ramsey-Goldman said. "The hope is that these discoveries lead to better diagnostic tools, such as biomarkers, and assist in the development of targeted therapies."

While large-scale population screening may not be financially practical, it may be more realistic to accelerate the diagnosis of suspected lupus by testing narrowly for genetic markers such as those uncovered in the current study, according to the authors.

"Understanding the implications and not just cataloguing the overlap of genetic variation that predicts multiple autoimmune diseases is a key next set of questions these investigators are pursuing," said lead author Carl Langefeld, PhD, professor of Biostatistics at Wake Forest Medicine.

Explore further: Large multi-ethnic study identifies many new genetic markers for lupus

More information: Carl D. Langefeld et al. Transancestral mapping and genetic load in systemic lupus erythematosus, Nature Communications (2017). DOI: 10.1038/ncomms16021

Related Stories

Large multi-ethnic study identifies many new genetic markers for lupus

July 17, 2017
Scientists from an international consortium have identified a large number of new genetic markers that predispose individuals to lupus.

Team identifies potential cause for lupus

July 14, 2017
Leading rheumatologist and Feinstein Institute for Medical Research Professor Betty Diamond, MD, may have identified a protein as a cause for the adverse reaction of the immune system in patients suffering from lupus. A better ...

African-American lupus patient immune cell characteristics may increase disease severity

June 16, 2016
Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs. SLE severity is highly variable, and this variability is known to be partially dependent on ancestral background. Notably, African ...

Researchers discover ten new lupus genes in Asian population study

January 25, 2016
An international coalition of researchers led by Oklahoma Medical Research Foundation scientist Swapan Nath, Ph.D., has identified 10 new genes associated with the autoimmune disease lupus. The findings were published in ...

Lower mortality rates among Asian and Hispanic lupus patients

January 15, 2015
A new study by researchers from Brigham and Women's Hospital in Boston, Massachusetts reveals that Asian and Hispanic patients with systemic lupus erythematosus (SLE) have lower mortality rates compared to Black, White, or ...

Recommended for you

Eczema drug effective against severe asthma

May 21, 2018
Two new studies of patients with difficult-to-control asthma show that the eczema drug dupilumab alleviates asthma symptoms and improves patients' ability to breathe better than standard therapies. Dupilumab, an injectable ...

Neuron guidance factor found to play a key role in immune cell function

May 21, 2018
Macrophages are white blood cells involved in a variety of biological functions, from destroying infectious pathogens to repairing damaged tissue. To carry out their different roles, macrophages must first be activated and ...

Immune cells hold promise in slowing down ALS

May 21, 2018
Recent research from Houston Methodist Hospital showed that a new immunotherapy was safe for patients with ALS and also revealed surprising results that could bring hope to patients who have this relentlessly progressive ...

First clues to the causes of multiple sclerosis

May 16, 2018
Multiple sclerosis, which affects one in 1,000 people, is frequently characterised by relapses associated with variable functional impairments including among others vision problems, impairment of locomotor functions or difficulties ...

A high-fiber diet protects mice against the flu virus

May 15, 2018
Dietary fiber increases survival in influenza-infected mice by setting the immune system at a healthy level of responsiveness, according to a preclinical study published May 15th in the journal Immunity. A high-fiber diet ...

Study finds that different diseases elicit distinct sets of exhausted T cells

May 15, 2018
The battle between the human immune system and long-term, persisting infections and other chronic diseases such as cancer results in a prolonged stalemate. Over time battle-weary T cells become exhausted, giving germs or ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.