Prognostic Impact of Genetic Variants of MECP2 and TIRAP on Clinical Outcomes of Systemic Lupus Erythematosus with and without Nephritis

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune illness with a growing prevalence in many populations. Few studies have examined genetic predisposition to SLE, so we aimed to examine the clinical impact of the genetic polymorphisms MECP2 rs2734647and TIRAP rs8177374 on the outcomes and therapeutic precision of SLE with and without nephritis. This study included 110 SLE patients—divided into 63 with lupus nephritis (LN), and 47 without nephritis—and 100 controls. Laboratory measurements including CRP, ESR, ACR, CBC, anti-ds-DNA, vitamin A, C3, and C4 were carried out, along with genotyping of MECP2 rs2734647and TIRAP rs8177374 by real-time PCR and sequencing. Treg %, vitamin A, C3, and C4 were lower, whereas Th17 % was higher, in patients vs. controls (p < 0.001). The T allele of MECP2 rs2734647 was higher in LN than in non-nephritis and control subjects. Moreover, the T allele of TIRAP rs8177374 was higher in LN than in non-nephritis and control subjects. The MECP2 and TIRAP genes could play a role in predisposition to SLE, and can also predict disease progress to nephritis, helping to personalize medicine.

Study on Some Parameters and Anti-Rubella Igg in A Sample of Systemic Lupus Erythematosus Patients

“…Several aspects, especially genetic predisposition, environmental triggers, and hormonal milieu, each play role in disease development and manifestation (2) . Arthritis, oral ulcers, fever, blood disorders, serositis, photosensitivity, renal involvement, malar rash, immunological manifestations, discoid rash, neurologic disorders, and hair loss are all typical signs of SLE illness (3) . The estimated frequency of lupus in the global population ranged from 6.5 to 178.0 cases per 100,000 individuals.…”

Osteopontin gene single nucleotide polymorphism and lupus nephritis: Correspondence

“…Because the effects of such gene polymorphisms have been documented, the results of this study may be altered if they exist. These polymorphisms are well‐known examples of genetic polymorphisms that have been linked to an elevated risk of LN formation in previous studies, 2–4 hence they should be investigated in conjunction with osteopontin polymorphisms. A study focusing solely on the osteopontin gene single nucleotide polymorphism cannot rule out the possibility of confounding effects from these polymorphisms.…”

“…There have been many studies linking additional genetic polymorphisms to LN. Examples of those polymorphisms are interferon (IFN)‐gamma, methyl‐CpG‐binding protein 2 (MECP2), Toll‐like receptor domain‐containing adaptor protein (TIRAP), Annexin (ANXA) A1 and its receptor gene polymorphisms 2–4 . Each of the polymorphisms described has been linked to LN.…”

“…The IFN +874 T/A polymorphism has been linked to clinical symptoms of SLE such as LN and proteinuria 3 . The T allele of MECP2 rs2734647 was shown to be more prevalent in LN than in non‐nephritic and control patients 4 . Furthermore, ANXA1 > rs3739959 has been linked to LN 2 .…”