Amr Sawalha, MD

University of Michigan, Ann Arbor, MI

2010 Human Lupus Biology
2011 Genetics

Dr. Sawalha

Dr. Sawalha and colleagues have strong evidence to suggest that at least one contributing factor to the development of lupus may be the activation (or deactivation) of genes in T cells without changes in DNA sequence.  Instead, the suspect mechanism, called DNA methylation, is believed to lead to abnormal expression of genes in immune system T cells that attack  antigens causing disease.

This highly productive young researcher will use LRI funding to apply innovative, cutting-edge technologies for identifying the regions in the human genome that are abnormally methylated in lupus T cells (white blood cells of the immune system), and then track the functional effects of these abnormalities.

His discoveries in working with human tissue hold hope for identifying molecules that can be used as biomarkers and targeted for therapy in lupus patients.

New Study Shows Lupus more dependent on genes in men than in women

Men must inherit a greater number of genetic risk factors for lupus to develop the disease compared to women, according to research just published. This higher ‘threshold’ of genetic risk for lupus in men suggests that it is much harder for men to develop the disease and may provide a new explanation as to why the disease is around nine times less common in men than in women.

An international team of researchers, led by Dr. Amr Sawalha at the University of Oklahoma Health Sciences Center, set out to discover if men and women have different genetic risk factors for lupus. They looked for the presence of known genetic risk factors for lupus in over 7,000 lupus patients and found that compared with women, men with lupus had a greater number of predisposing genes on their non-sex or autosomal chromosomes.

The researchers propose that a higher genetic risk threshold in men combined with hormonal and sex chromosome-based genetic differences, account for the disparity in the incidence of lupus between men and women.The findings are published in the November 11 issue of Annals of the Rheumatic Diseases.

Dr. Amr Sawalha is a current recipient of a Lupus Research Institute Novel Research Grant looking into how the proper control of immune system genes may be compromised in lupus.

Select Publications:

Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus. Ann Rheum Dis. 2011 Nov 21. [Epub ahead of print]. Hughes T, Adler A, Merrill JT, Kelly JA, Kaufman KM, Williams A, Langefeld CD, Gilkeson GS, Sanchez E, Martin J, Boackle SA, Stevens AM, Alarcón GS, Niewold TB, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Petri M, Reveille JD, Criswell LA, Vilá LM, Jacob CO, Gaffney PM, Moser KL, Vyse TJ, Alarcón-Riquelme ME; BIOLUPUS Network, James JA, Tsao BP, Scofield RH, Harley JB, Richardson BC, Sawalha AH.