Twin studies in autoimmune disease: Genetics, gender and environment

TY - JOUR

T1 - Twin studies in autoimmune disease

T2 - Genetics, gender and environment

AU - Bogdanos, Dimitrios P.

AU - Smyk, Daniel S.

AU - Rigopoulou, Eirini I.

AU - Mytilinaiou, Maria G.

AU - Heneghan, Michael A.

AU - Selmi, Carlo

AU - Gershwin, M. Eric

PY - 2012/5

Y1 - 2012/5

N2 - Twin studies are powerful tools to discriminate whether a complex disease is due to genetic or environmental factors. High concordance rates among monozygotic (MZ) twins support genetic factors being predominantly involved, whilst low rates are suggestive of environmental factors. Twin studies have often been utilised in the study of systemic and organ specific autoimmune diseases. As an example, type I diabetes mellitus has been investigated to establish that that disease is largely affected by genetic factors, compared to rheumatoid arthritis or scleroderma, which have a weaker genetic association. However, large twin studies are scarce or virtually non-existent in other autoimmune diseases which have been limited to few sets of twins and individual case reports. In addition to the study of the genetic and environmental contributions to disease, it is likely that twin studies will also provide data in regards to the clinical course of disease, as well as risk for development in related individuals. More importantly, genome-wide association studies have thus far reported genomic variants that only account for a minority of autoimmunity cases, and cannot explain disease discordance in MZ twins. Future research is therefore encouraged not only in the analysis of twins with autoimmune disease, but also in regards to epigenetic factors or rare variants that may be discovered with next-generation sequencing. This review will examine the literature surrounding twin studies in autoimmune disease including discussions of genetics and gender.

AB - Twin studies are powerful tools to discriminate whether a complex disease is due to genetic or environmental factors. High concordance rates among monozygotic (MZ) twins support genetic factors being predominantly involved, whilst low rates are suggestive of environmental factors. Twin studies have often been utilised in the study of systemic and organ specific autoimmune diseases. As an example, type I diabetes mellitus has been investigated to establish that that disease is largely affected by genetic factors, compared to rheumatoid arthritis or scleroderma, which have a weaker genetic association. However, large twin studies are scarce or virtually non-existent in other autoimmune diseases which have been limited to few sets of twins and individual case reports. In addition to the study of the genetic and environmental contributions to disease, it is likely that twin studies will also provide data in regards to the clinical course of disease, as well as risk for development in related individuals. More importantly, genome-wide association studies have thus far reported genomic variants that only account for a minority of autoimmunity cases, and cannot explain disease discordance in MZ twins. Future research is therefore encouraged not only in the analysis of twins with autoimmune disease, but also in regards to epigenetic factors or rare variants that may be discovered with next-generation sequencing. This review will examine the literature surrounding twin studies in autoimmune disease including discussions of genetics and gender.

KW - Autoimmunity

KW - Disease

KW - Environment

KW - Genetics

KW - Gender

KW - Genes

KW - Infection

KW - GENOME-WIDE ASSOCIATION

KW - PRIMARY BILIARY-CIRRHOSIS

KW - SYSTEMIC-LUPUS-ERYTHEMATOSUS

KW - INFLAMMATORY-BOWEL-DISEASE

KW - PRIMARY SCLEROSING CHOLANGITIS

KW - DEPENDENT DIABETES-MELLITUS

KW - GLUTEN-SENSITIVE ENTEROPATHY

KW - PRIMARY SJOGRENS-SYNDROME

KW - IDIOPATHIC THROMBOCYTOPENIC PURPURA

KW - MAJOR HISTOCOMPATIBILITY COMPLEX

U2 - 10.1016/j.jaut.2011.11.003

DO - 10.1016/j.jaut.2011.11.003

M3 - Literature review

SN - 0896-8411

VL - 38

SP - J156-J169

JO - Journal of Autoimmunity

JF - Journal of Autoimmunity

IS - 2-3

ER -