PMID- 20130896
OWN - NLM
STAT- MEDLINE
DCOM- 20100920
LR  - 20220317
IS  - 1432-069X (Electronic)
IS  - 0340-3696 (Linking)
VI  - 302
IP  - 5
DP  - 2010 Jul
TI  - Genetics of keloid scarring.
PG  - 319-39
LID - 10.1007/s00403-009-1014-y [doi]
AB  - Keloid scarring, also known as keloid disease (KD), is a common, abnormally 
      raised fibroproliferative cutaneous lesion that can occur following even minor 
      skin trauma. The aetiopathogenesis of KD has remained an enigma todate compounded 
      by an ill-defined clinical management. There is strong evidence suggesting a 
      genetic susceptibility in individuals affected by KD, including familial 
      heritability, common occurrence in twins and high prevalence in certain ethnic 
      populations. This review aims to address the genetic aspects of KD that have been 
      described in present literature that include inheritance patterns, linkage 
      studies, case-control association studies, whole genome gene expression 
      microarray studies and gene pathways that were significant in KD. In addition to 
      our clinical and scientific background in KD, we used search engines, Scopus, 
      Scirus and PubMed, which searched for key terms covering various genetic aspects 
      of KD. Additionally, genes reported in seven whole genome gene expression 
      microarray studies were separately compared in detail. Our findings indicate a 
      varied inheritance pattern in KD (predominantly autosomal dominant), linkage loci 
      (chromosomes 2q23 and 7p11), several human leukocyte antigen (HLA) alleles 
      (HLA-DRB1*15, HLA-DQA1*0104, DQ-B1*0501 and DQB1*0503), negative candidate gene 
      case-control association studies and at least 25 dysregulated genes reported in 
      multiple microarray studies. The major pathways reportedly proposed to be 
      involved in KD include apoptosis, mitogen-activated protein kinase, transforming 
      growth factor-beta, interleukin-6 and plasminogen activator inhibitor-1. In 
      summary, involvement of more than one gene is likely to be responsible for 
      susceptibility to KD. A better understanding of the genes involved in KD may 
      potentially lead to the development of more effective diagnostic, therapeutic and 
      prognostic measures.
FAU - Shih, Barbara
AU  - Shih B
AD  - Plastic and Reconstructive Surgery Research, Epithelial Sciences, School of 
      Translational Medicine, The Manchester Interdisciplinary Biocentre (MIB), 
      University of Manchester, 131 Princess Street, Manchester M17ND, UK.
FAU - Bayat, Ardeshir
AU  - Bayat A
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20100204
PL  - Germany
TA  - Arch Dermatol Res
JT  - Archives of dermatological research
JID - 8000462
RN  - 0 (HLA Antigens)
RN  - 0 (Plasminogen Activator Inhibitor 1)
RN  - 0 (SERPINE1 protein, human)
RN  - 0 (Transforming Growth Factor beta)
RN  - EC 2.7.11.24 (Mitogen-Activated Protein Kinases)
SB  - IM
MH  - Apoptosis
MH  - Cicatrix/*genetics/metabolism
MH  - Clinical Trials as Topic
MH  - *Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Inheritance Patterns
MH  - Keloid/*genetics/metabolism
MH  - Mitogen-Activated Protein Kinases/genetics
MH  - Oligonucleotide Array Sequence Analysis
MH  - Plasminogen Activator Inhibitor 1/genetics
MH  - Polymorphism, Genetic
MH  - Transforming Growth Factor beta/genetics
RF  - 148
EDAT- 2010/02/05 06:00
MHDA- 2010/09/21 06:00
CRDT- 2010/02/05 06:00
PHST- 2009/10/27 00:00 [received]
PHST- 2009/12/07 00:00 [accepted]
PHST- 2009/11/30 00:00 [revised]
PHST- 2010/02/05 06:00 [entrez]
PHST- 2010/02/05 06:00 [pubmed]
PHST- 2010/09/21 06:00 [medline]
AID - 10.1007/s00403-009-1014-y [doi]
PST - ppublish
SO  - Arch Dermatol Res. 2010 Jul;302(5):319-39. doi: 10.1007/s00403-009-1014-y. Epub 
      2010 Feb 4.