Abstract:
: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.
journal_name
Arch Dermatol Resjournal_title
Archives of dermatological researchauthors
Emami A,Halim AS,Salahshourifar I,Yussof SJ,Khoo TL,Kannan TPdoi
10.1007/s00403-012-1262-0subject
Has Abstractpub_date
2012-09-01 00:00:00pages
541-7issue
7eissn
0340-3696issn
1432-069Xjournal_volume
304pub_type
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journal_title:Archives of dermatological research
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