Non-HLA associations with autoimmune diseases

Norma C. Serrano; Paula Millan; María Carolina Páez

doi:10.1016/j.autrev.2005.06.009

Non-HLA associations with autoimmune diseases

Norma C. Serrano, Paula Millan, María Carolina Páez

Research output: Articles / Notes › Scientific Article › peer-review

47 Scopus citations

Abstract

Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genes and environmental or stochastic factors. The strongest influence on susceptibility to autoimmunity is the major histocompatibility complex (MHC), in particular HLA; however, linkage analyses among multiple affected family members have established that non-MHC chromosomal susceptibility regions also influence the susceptibility towards AID. Besides HLA, three non-HLA genes have been convincingly associated with different AID: Citotoxic T lymphocyte-associated antigen 4 (CTLA4), Protein Tyrosine Phosphatase (PTPN22) and Tumor Necrosis Factor-α (TNF), indicating that autoimmune phenotypes could represent pleiotropic outcomes of non-specific diseases' genes that underline similar immunogenetic mechanisms. Identification of genes that generate susceptibility will enhance our understanding of the mechanisms that mediate these complex diseases and will allow us to predict and/or prevent them as well as to discover new therapeutic interventions.

Original language	English
Pages (from-to)	209-214
Number of pages	6
Journal	Autoimmunity Reviews
Volume	5
Issue number	3
DOIs	https://doi.org/10.1016/j.autrev.2005.06.009
State	Published - Mar 2006

Keywords

Autoimmune diseases
CTLA4
Genetics
PTPN22
Polymorphism
TNF

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title = "Non-HLA associations with autoimmune diseases",

abstract = "Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genes and environmental or stochastic factors. The strongest influence on susceptibility to autoimmunity is the major histocompatibility complex (MHC), in particular HLA; however, linkage analyses among multiple affected family members have established that non-MHC chromosomal susceptibility regions also influence the susceptibility towards AID. Besides HLA, three non-HLA genes have been convincingly associated with different AID: Citotoxic T lymphocyte-associated antigen 4 (CTLA4), Protein Tyrosine Phosphatase (PTPN22) and Tumor Necrosis Factor-α (TNF), indicating that autoimmune phenotypes could represent pleiotropic outcomes of non-specific diseases' genes that underline similar immunogenetic mechanisms. Identification of genes that generate susceptibility will enhance our understanding of the mechanisms that mediate these complex diseases and will allow us to predict and/or prevent them as well as to discover new therapeutic interventions.",

keywords = "Autoimmune diseases, CTLA4, Genetics, PTPN22, Polymorphism, TNF",

author = "Serrano, {Norma C.} and Paula Millan and P{\'a}ez, {Mar{\'i}a Carolina}",

note = "Funding Information: This work was financed by Universidad Aut{\'o}noma de Bucaramanga (EGEN19) and TCC, Colombia. ",

year = "2006",

month = mar,

doi = "10.1016/j.autrev.2005.06.009",

language = "Ingl{\'e}s",

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journal = "Autoimmunity Reviews",

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T1 - Non-HLA associations with autoimmune diseases

AU - Serrano, Norma C.

AU - Millan, Paula

AU - Páez, María Carolina

N1 - Funding Information: This work was financed by Universidad Autónoma de Bucaramanga (EGEN19) and TCC, Colombia.

PY - 2006/3

Y1 - 2006/3

N2 - Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genes and environmental or stochastic factors. The strongest influence on susceptibility to autoimmunity is the major histocompatibility complex (MHC), in particular HLA; however, linkage analyses among multiple affected family members have established that non-MHC chromosomal susceptibility regions also influence the susceptibility towards AID. Besides HLA, three non-HLA genes have been convincingly associated with different AID: Citotoxic T lymphocyte-associated antigen 4 (CTLA4), Protein Tyrosine Phosphatase (PTPN22) and Tumor Necrosis Factor-α (TNF), indicating that autoimmune phenotypes could represent pleiotropic outcomes of non-specific diseases' genes that underline similar immunogenetic mechanisms. Identification of genes that generate susceptibility will enhance our understanding of the mechanisms that mediate these complex diseases and will allow us to predict and/or prevent them as well as to discover new therapeutic interventions.

AB - Susceptibility to autoimmune diseases (AID) has been associated with multiple combinations of genes and environmental or stochastic factors. The strongest influence on susceptibility to autoimmunity is the major histocompatibility complex (MHC), in particular HLA; however, linkage analyses among multiple affected family members have established that non-MHC chromosomal susceptibility regions also influence the susceptibility towards AID. Besides HLA, three non-HLA genes have been convincingly associated with different AID: Citotoxic T lymphocyte-associated antigen 4 (CTLA4), Protein Tyrosine Phosphatase (PTPN22) and Tumor Necrosis Factor-α (TNF), indicating that autoimmune phenotypes could represent pleiotropic outcomes of non-specific diseases' genes that underline similar immunogenetic mechanisms. Identification of genes that generate susceptibility will enhance our understanding of the mechanisms that mediate these complex diseases and will allow us to predict and/or prevent them as well as to discover new therapeutic interventions.

KW - Autoimmune diseases

KW - CTLA4

KW - Genetics

KW - PTPN22

KW - Polymorphism

KW - TNF

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U2 - 10.1016/j.autrev.2005.06.009

DO - 10.1016/j.autrev.2005.06.009

M3 - Artículo Científico

C2 - 16483921

AN - SCOPUS:32544454825

SN - 1568-9972

VL - 5

SP - 209

EP - 214

JO - Autoimmunity Reviews

JF - Autoimmunity Reviews

IS - 3

ER -

Non-HLA associations with autoimmune diseases

Abstract

Keywords

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