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Association of TGFβ1 and SMAD4 variants in the etiology of keloid scar in the Malay population

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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.

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Acknowledgments

We are grateful to the patients and their family members for their willing cooperation and participation in this study and to the members of the Human Genome Center and Reconstructive Sciences Unit for their help. This study was supported by a USM short-term grant (No. 304/PPSP/61310017).

Conflict of interest

The authors state no conflicts of interest.

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Authors and Affiliations

  1. Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia

    Azadeh Emami, Iman Salahshourifar & Thirumulu Ponnuraj Kannan

  2. Reconstructive Sciences Unit, School of Medical Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia

    Azadeh Emami, Ahmad Sukari Halim, Iman Salahshourifar, Shah Jumaat Mohd Yussof & Teng Lye Khoo

  3. School of Dental Sciences, Universiti Sains Malaysia, 16150, Kubang Kerian, Kelantan, Malaysia

    Thirumulu Ponnuraj Kannan

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  1. Azadeh Emami
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  2. Ahmad Sukari Halim
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Correspondence to Ahmad Sukari Halim.

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Emami, A., Halim, A.S., Salahshourifar, I. et al. Association of TGFβ1 and SMAD4 variants in the etiology of keloid scar in the Malay population. Arch Dermatol Res 304, 541–547 (2012). https://doi.org/10.1007/s00403-012-1262-0

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  • DOI: https://doi.org/10.1007/s00403-012-1262-0

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