Association of TGF beta 1 and SMAD4 variants in the etiology of keloid scar in the Malay population

作者：Emami Azadeh; Halim Ahmad Sukari^*; Salahshourifar Iman; Yussof Shah Jumaat Mohd; Khoo Teng Lye; Kannan Thirumulu Ponnuraj

来源：Archives of Dermatological Research, 2012, 304(7): 541-547.

DOI：10.1007/s00403-012-1262-0

• Keloid scar
• Genetic variants
• TGF beta 1
• SMAD4
• Malay population

Keloid is a complex condition with environmental and genetic risk-contributing factors. Two candidate genes, TGF beta 1 and SMAD4, located in the same signaling pathway are highly expressed in the keloid fibroblast cells. In a case-control design, TGF beta 1 haplotypes showed association with the risk of keloid in the present study. The CC haplotype, composed of both c.29C %26gt; T and -509T %26gt; 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 %26gt; 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 TGF beta 1 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 TGF beta 1 variants and keloids in the Malay population.

• 出版日期2012-9