PMID- 23026857
OWN - NLM
STAT- MEDLINE
DCOM- 20130219
LR  - 20211021
IS  - 1531-6963 (Electronic)
IS  - 1040-8711 (Print)
IS  - 1040-8711 (Linking)
VI  - 24
IP  - 6
DP  - 2012 Nov
TI  - The genetics of scleroderma: looking into the postgenomic era.
PG  - 677-84
LID - 10.1097/BOR.0b013e328358575b [doi]
AB  - PURPOSE OF REVIEW: The last decade has seen enormous progress in understanding 
      genetic associations of systemic sclerosis to explain the observed heritability. 
      This review highlights the most recent findings and places them in the context of 
      proposed functional roles. RECENT FINDINGS: Over 30 genes and gene regions have 
      now been identified as scleroderma susceptibility loci. These include both human 
      leukocyte antigen (HLA) and non-HLA genes, most of which involve immune-related 
      pathways and modifiers of immune function. Many of these associations have also 
      been reported in other systemic autoimmune diseases and suggest that there are 
      multiple autoimmunity genes resulting in disease occurrence. SUMMARY: In spite of 
      these advances, only a small proportion of the heritability of systemic sclerosis 
      has been explained. Ongoing studies include fine mapping and sequencing studies 
      to identify causal variants, whereas other studies focus on functional 
      consequences of these variants in order to identify the link between these 
      genetic variants and disease susceptibility. Such knowledge should lead to more 
      targeted and effective treatment in this disease.
FAU - Mayes, Maureen D
AU  - Mayes MD
AD  - Division of Rheumatology and Clinical Immunogenetics, University of Texas Health 
      Science Center, Houston, Texas 77030, USA. maureen.d.mayes@uth.tmc.edu
LA  - eng
GR  - R01 AR055258/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Curr Opin Rheumatol
JT  - Current opinion in rheumatology
JID - 9000851
RN  - 0 (HLA Antigens)
SB  - IM
MH  - *Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - Genomics/*methods
MH  - HLA Antigens/*genetics
MH  - Humans
MH  - Molecular Targeted Therapy
MH  - Polymorphism, Single Nucleotide
MH  - Scleroderma, Systemic/*genetics/therapy
PMC - PMC3678376
MID - NIHMS422546
COIS- Conflicts of interest There are no conflicts of interest.
EDAT- 2012/10/03 06:00
MHDA- 2013/02/21 06:00
PMCR- 2013/06/11
CRDT- 2012/10/03 06:00
PHST- 2012/10/03 06:00 [entrez]
PHST- 2012/10/03 06:00 [pubmed]
PHST- 2013/02/21 06:00 [medline]
PHST- 2013/06/11 00:00 [pmc-release]
AID - 00002281-201211000-00015 [pii]
AID - 10.1097/BOR.0b013e328358575b [doi]
PST - ppublish
SO  - Curr Opin Rheumatol. 2012 Nov;24(6):677-84. doi: 10.1097/BOR.0b013e328358575b.