The ALR-funded International SLE Genetics (SLEGEN) Consortium research project has identified multiple genes linked to women with lupus. These findings set the stage for more studies that will eventually lead to earlier diagnosis and new treatments for this debilitating illness.

The three-year SLEGEN study was formed and supported with $2.25 million in funding from the Alliance for Lupus Research (ALR). Published in the January 20, 2008, issue of Nature Genetics, the results underscore the role of genetic variants in predisposing an individual to developing lupus disease.

Researchers studied the DNA of more than 6,700 women, including individuals with lupus, their family members and control subjects. After sifting through a massive database and scanning the entire genome for more than 317,000 single nucleotide polymorphisms (SNPs), they discovered robust evidence of an association to lupus in three genes - ITGAM, KIAA1542 and PXK - and at SNP rs10798269, a DNA unit not found within any known gene. SNPs are locations in the chromosomes where a single unit of DNA may vary from one person to another.

Nine other genes showed convincing evidence of linkage to lupus as well. In the end, the researchers presented data that identify 13 strong genetic candidates that may be linked to lupus.

What the SLEGEN study means for people with lupus:

Now that these genes have been identified, other scientists can seize upon these findings to start developing new strategies for prevention and therapy. These results represent a significant step toward the ALR mission of preventing, treating and curing lupus. Moving forward, SLEGEN updates will show how this study is driving further advancement in lupus treatment. The SLEGEN project opens the door to future lupus research funding that will help build on these groundbreaking results. Stay tuned to learn how researchers are building on SLEGEN to target specific genetic pathways for potential new treatments.

Slegen at a Glance

• The Alliance for Lupus Research (ALR) founded the international research consortium in 2005.
• The ALR supported the three-year study with $2.25 million in funding.
• Researchers studied DNA from more than 6,700 women, including lupus patients, their families and unrelated controls.
• After scanning the entire genome and 317,000 single nucleotide polymorphisms (SNPs), scientists found:
  • Four genes with robust evidence of genetic linkage to lupus
  • Nine other genes with promising evidence of linkage to the disease
  • The data are 99% accurate.
  • Study results appeared in the January 20, 2008, issue of Nature Genetics.
  • Results will spur more studies, leading to new treatment strategies.