Recent advances in systemic lupus erythematosus genetics in an Asian population

Abstract

Recent advances in systemic lupus erythematosus (SLE) genetics in Asian populations have been achieved by genome-wide association studies (GWASs) and following replication studies, which expanded the genetic information about shared or population-specific risk genes between ethnic groups. Meta-analyses and multi-ethnic replication studies may be possible approaches that could demonstrate stronger or more suggestive evidence for multiple variants for SLE. In addition to the susceptibility of SLE itself, several genotype-phenotype analyses have shown that the specific phenotypes of SLE can also be influenced by genetic factors. Almost all SLE genetic loci are involved in the potential pathways of SLE pathogenesis, such as Toll-like receptor/type I interferon signaling, nuclear factor κB signaling, immune complex clearing mechanism, immune cell (B, T cell, neutrophil and monocyte) function and signaling, cell-cycle regulation, DNA methylation and autophagy. Further studies, including the next generation sequencing technology and the systematic strategy using bioinformatics, in addition to international collaboration among SLE genetic researchers, will give us better understanding of the genetic basis of SLE.

Phagocyte activity in the peripheral blood of pregnant women with systemic lupus erythematosus and in the cord blood of their newborns

“…Inherited factors can influence the capability of cord blood phagocytes to produce ROS. Genome‐wide studies have identified more than 30 loci related to SLE pathogenesis . An important risk factor for SLE is neutrophil cytosolic factor 2 (NCF2) .…”

“…Genome-wide studies have identified more than 30 loci related to SLE pathogenesis. 39,40 An important risk factor for SLE is neutrophil cytosolic factor 2 (NCF2). 41,42 A mutation in NCF2 gene (H389Q) causes a decrease of ROS production via the activation of Vav-dependent Fcc receptor-mediated NADPH oxidase activity.…”

Clinical picture of lupus nephritis in patients with systemic lupus erythematosus (SLE): Results of a large survey

“…The underlying pathogenesis and causative factors of SLE are yet to be elucidated. A combination of genetic and environmental factors have been implicated in disease susceptibility [2,3].…”

“…There is significant patient-to-patient variability in the clinical manifestations and severity of SLE [6]. Populationspecific risk factors play key roles in the development of SLE clinical variants based on ethnicity and geography [2].…”

Genetic variants associate with systemic lupus erythematosus risk across ethnic groups

“…Replication studies have been instrumental in determining the applicability of risk loci identified in a GWAS performed in one ethnic population to a different ethnic population. Interestingly, replication studies have demonstrated that the majority of SLE risk loci, over 40, are shared across multi‐ethnic populations with a minority demonstrating ethnic‐specific differences …”