Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor.
BACKGROUND
Vitiligo vulgaris is a depigmentary disorder resulting from the disappearance of functional melanocytes. Currently, the pathogenesis of this disorder remains obscure.


OBJECTIVE
Genetic analysis of patients with vitilgo may provide important clues for elucidating the complex pathomechanisms involved in the disease process. Because dysfunctional keratinocytes have recently been implicated in the pathogenesis of vitiligo vulgaris, we conducted a case-control association study to investigate this phenomenon.


METHODS
Fifty-one patients with vitiligo vulgaris and 118 healthy controls from Taiwan were recruited to investigate the association between relevant keratinocyte-related genes and the occurrence of vitiligo vulgaris. This study genotyped 11 single-nucleotide polymorphisms (SNPs) in five genes including stem cell factor (SCF, also known as KITLG), basic fibroblast growth factor (bFGF, also known as NuDT6), endothelin-1 (EDN1), hepatocyte growth factor (HGF) and stem cell growth factor (SCGF, also known as CLEC11A).


RESULTS
Our results revealed that the A allele for SNP rs11104947 in the SCF gene and the T allele for SNP rs13866 in the SCGF gene were, respectively, associated with a 1.95- and a 2.14-fold risk of developing vitiligo vulgaris. A higher risk was also detected among subjects who carried the SCF rs995029/rs11104947 C/A haplotype (odds ratio = 2.45). Furthermore, the at-risk alleles for SCF rs11104947 (A allele) and for SCGF SNP rs13866 (T allele) were found to display a 7.92-fold increased gene-gene combined risk. No significant relationship between polymorphic frequency for genes bFGF, EDN1 as well as HGF and occurrence of vitiligo vulgaris was observed.


CONCLUSIONS
These novel genetic findings provide new insights in relation to the mechanisms that might be involved in the development of vitiligo vulgaris.
Lan
C-C E
CC
Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Taiwan.
Ko
Y-C
YC
Tu
H-P
HP
Wu
C-S
CS
Lee
C-H
CH
Wu
C-S
CS
Yu
H-S
HS
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D019332:Endothelin-1 / Q000235:genetics; D005260:Female; D016222:Fibroblast Growth Factor 2 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D016298:Hematopoietic Cell Growth Factors / Q000235:genetics; D017228:Hepatocyte Growth Factor / Q000235:genetics; D006801:Humans; D015603:Keratinocytes / Q000378:metabolism*; D037181:Lectins, C-Type / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019089:Stem Cell Factor / Q000235:genetics*; D013624:Taiwan; D014820:Vitiligo / Q000235:genetics*; D055815:Young Adult
C110532:CLEC11A protein, human; D019332:Endothelin-1; D016298:Hematopoietic Cell Growth Factors; D037181:Lectins, C-Type; D019089:Stem Cell Factor; D016222:Fibroblast Growth Factor 2; D017228:Hepatocyte Growth Factor