A review on the impact of genetics and genome wide association studies in autoimmunity

Abstract

Autoimmune diseases (AIDs) in humans are considered as major issues in public health. AIDs affect almost 10% of human population [1]. AIDs in human are disorders with complexity and they develop from the interactions between polygenic risk and environmental factors [2]. Investigations of genetics in AIDs contain the potential to have an unbiased view of etiologies in common conditions to identify novel targets for therapy. In the era of pre genomics, the understanding of heritability in disease were derived based on the high prevalence rate of autoimmune disease in twins [3] or family members [4] compared with nonbiological relatives in a shared environment [5]. Apart from the recognition of risk factors influenced by genetics in autoimmune disease, there exists a challenge to identify the causal nucleotide variants and correlate their functional effects. The sequencing of human genome and rapidly emerging technologies in genomics helps us to retrieve the genetic variants that contribute to the risk factors of autoimmune disease. Understandings of genetics in human AIDs were expanded with a high rate of prevalence in the last 15 years. In this review, we analyze the biological lessons learnt from the genetic studies of AIDs in humans.