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

July 17, 2017, Wake Forest University Baptist Medical Center

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

The study is published in the July 17 issue of the journal Nature Communications and was led by researchers at Wake Forest Baptist Medical Center, Oklahoma Medical Research Foundation, King's College of London and Genentech Inc.

Autoimmune diseases strike one in 15 Americans, are among the top 10 causes of death in women and cost an estimated $100 billion a year in medical care. In autoimmune diseases, the body attacks itself. Systemic erythematosus, the form of lupus studied here, is the most common type of lupus and is a prototypical autoimmune disease.

Lupus strikes women nine times more often than men and its onset is most common during childbearing age. Also, African-American and Hispanic women are two to three times more likely to develop lupus and tend to have more severe cases than Caucasian women. At present, there is no cure for lupus, which can affect many parts of the body, including joints, skin, kidney, heart, lungs, blood vessels and brain, according to the Lupus Research Alliance.

"This study is the largest multi-ethnic lupus genetics study to date and allowed us to identify many new genetic markers, some of which are specific to individual and others that are shared across ethnicities," said Carl Langefeld, Ph.D., lead author of the study and professor of biostatistical sciences at Wake Forest School of Medicine, a part of Wake Forest Baptist. "With this information, we can begin to better understand the differences in the rates and severity of disease across ethnic groups.

"In addition, we observed that many of the genetic markers associated with lupus are shared across numerous autoimmune diseases, and those that are not shared may allow us to understand why a person develops lupus instead of another autoimmune disease. These results will help us identify the biological pathways that pharmaceutical companies may target, and ultimately, develop personalized medicine for the treatment of lupus."

This study analyzed genetic data from 27,574 individuals of European, African American and Hispanic ancestry using the Immunochip, a genotyping technology designed specifically for . The researchers identified 58 regions of the genome in Caucasians, nine in African Americans and 16 in Hispanics. These regions appear independent of the well-known Human Leukocyte Antigen (HLA) associations, also studied in depth here. An important observation was that nearly 50 percent of these regions had multiple genetic variants that predispose someone to lupus, Langefeld said.

Another key finding was that as the number of genetic risk variants (alleles) a person has increases, the risk for lupus increases more than expected if the variants were working independently. These observations led the authors to propose a "cumulative hits hypothesis for autoimmune disease".

In future research, the team hopes to better understand how these genetic variants influence the risk of lupus, identify any possible drug targets and determine if any environmental factors, such as infections, can trigger the development of the in someone who has a genetic susceptibility. They emphasize that it is important to increase the number of understudied populations, such as African-American and Hispanic, to better understand the genetic causes of health disparities in lupus and the unique risks in all ethnic groups.

"We are delighted to see the work we funded on the ImmunoChip come to fruition and congratulate Dr. Langefeld along with his colleagues on this tremendous success," said Kenneth M. Farber, CEO and President, Lupus Research Alliance. "This study is among the few to concentrate heavily on non-Caucasian populations for a significantly broader evaluation, while utilizing the most current and comprehensive information about human DNA."

Explore further: Team identifies potential cause for lupus

Related Stories

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 ...

New blood test detects stroke and heart attack risk in lupus patients with no CVD symptoms

June 15, 2017
The results of a study presented today at the Annual European Congress of Rheumatology (EULAR) 2017 press conference have shown that a specific biomarker detected in the blood of lupus patients with no symptoms of cardiovascular ...

Low vitamin D levels linked to lupus

April 30, 2015
Monash-led research has shown for the first time that low vitamin D levels are associated with higher disease activity in Australian lupus patients.

New genetic risk factors of lupus found in study of African-American women

June 24, 2011
Researchers from Boston University's Slone Epidemiology Center have found four new genetic variants in the major histocompatibility complex (MHC) that confer a higher risk of systemic lupus erythemathosus ("lupus") in 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 ...

Recommended for you

Novel genomic tools provide new insight into human immune system

January 19, 2018
When the body is under attack from pathogens, the immune system marshals a diverse collection of immune cells to work together in a tightly orchestrated process and defend the host against the intruders. For many decades, ...

Genomics reveals key macrophages' involvement in systemic sclerosis

January 18, 2018
A new international study has made an important discovery about the key role of macrophages, a type of immune cell, in systemic sclerosis (SSc), a chronic autoimmune disease which currently has no cure.

First vaccine developed against grass pollen allergy

January 18, 2018
Around 400 million people worldwide suffer in some form or other from a grass pollen allergy (rhinitis), with the usual symptoms of runny nose, cough and severe breathing problems. In collaboration with the Viennese firm ...

Researchers discover key driver of atopic dermatitis

January 17, 2018
Severe eczema, also known as atopic dermatitis, is a chronic inflammatory skin condition that is driven by an allergic reaction. In their latest study, researchers at La Jolla Institute reveal an important player that promotes ...

Who might benefit from immunotherapy? New study suggests possible marker

January 16, 2018
While immunotherapy has made a big impact on cancer treatment, the fact remains that only about a quarter of patients respond to these treatments.

Researchers identify new way to unmask melanoma cells to the immune system

January 16, 2018
system, which enables these deadly skin cancers to grow and spread.

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.