Analysis Of Genetic Association Of TGFB1 And SMAD4 Genes With Keloid In Malay Population

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dc.contributor.authorEmami, Azadeh
dc.date.accessioned2016-11-22T04:11:38Z
dc.date.available2016-11-22T04:11:38Z
dc.date.issued2012-02
dc.description.abstractKeloid 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. The present study investigated the association between variants of TGFβ1 and SMAD4 genes using PCR-RFLP genotyping method. Allele, genotype and haplotype frequencies of these variants were compared between 100 keloid cases and 100 normal healthy controls. No statistical significant difference was found between alleles and genotypes of TGFβ1 variants in the current case-control study in a Malay population, while TGFβ1 haplotypes in contrast showed a strong association with the risk of keloid. The C-C haplotype, composed of both c.29C>T and -509 T>C variants was observed more frequently among cases (Corrected p-value = 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 statistically significant trend (P-value = 0.0573, OR = 1.75, 95% CI = 0.99-3.13). The C-C haplotype of TGFβ1 variants showed an increased risk when combined with both alleles of the SMAD4 c.5131A>G variant, indicating possible interaction of these genes in keloid development. 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. There is only one documented report on a relationship between TGFβ1 and keloid with no association in the Caucasian population, while there has been no report for SMAD4. Therefore, the present study is the first of its kind showing a strong positive association between TGFβ1 and SMAD4 variants and keloids in the Malay population.en_US
dc.identifier.urihttp://hdl.handle.net/123456789/3153
dc.language.isoenen_US
dc.publisherUniversiti Sains Malaysiaen_US
dc.subjectEnvironmental and geneticen_US
dc.titleAnalysis Of Genetic Association Of TGFB1 And SMAD4 Genes With Keloid In Malay Populationen_US
dc.typeThesisen_US
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