Association of TGFβ1 and SMAD4 variants in the etiology of keloid scar in the Malay population.
Keloid is a complex condition with environmental and genetic risk-contributing factors. Two candidate genes, TGFβ1 and SMAD4, located in the same signaling pathway are highly expressed in the keloid fibroblast cells. In a case-control design, TGFβ1 haplotypes showed association with the risk of keloid in the present study. The CC haplotype, composed of both c.29C>T and -509T>C variants, was observed more frequently among cases (Corrected p = 0.037, OR = 2.07, 95 % CI = 0.87-4.93), showing a 4.5-fold increased risk for keloid. The AG genotype of the SMAD4 c.5131A>G variant showed a trend of significance (p = 0.0573, OR = 1.75, 95 % CI = 0.99-3.13). Taken together, either of these variants is most probably causative at the expression level or is in linkage disequilibrium with other causative variants in a complex pattern together with the environmental factors that contribute to the condition. To the best of our knowledge, there is only one documented report on a relationship between TGFβ1 and keloid with no association within the Caucasian population, while there have not been any reports for SMAD4. Therefore, the present study is likely the first research showing a significant association between TGFβ1 variants and keloids in the Malay population.
Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia.
Azadeh
A
Emami
Ahmad Sukari
AS
Halim
Iman
I
Salahshourifar
Shah Jumaat Mohd
SJ
Yussof
Teng Lye
TL
Khoo
Thirumulu Ponnuraj
TP
Kannan
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007627:Keloid / Q000235:genetics*; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D051901:Smad4 Protein / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult
D051901:Smad4 Protein; D016212:Transforming Growth Factor beta