The TaqI Gene Polymorphisms of VDR and the Circulating 1,25-Dihydroxyvitamin D Levels Confer the Risk for the Keloid Scarring in Chinese Cohorts

Abstract

Aim: to investigate the association between vitamin D receptor polymorphisms and circulating 1,25-Dihydroxyvitamin D (1,25(OH)2D) levels with keloid scar (KS) risk. Methods: A total of 261 patients with KS and 261 normal healthy individuals were enrolled. VDR gene polymorphisms were determined. Circulating 1,25(OH)2D levels were detected. Results: In this study, we investigated the role of four loci of VDR gene polymorphisms in determining the risk of KS in a Chinese cohort. We found that the TaqI C>T polymorphism was closely associated with the KS incidence. Carriers with CC genotype of TaqI had a higher chance of developing KS. Stratification analyses by sex showed that this trend exists only in female subjects but not in male subjects. Furthermore, the TaqI C>T polymorphism affects the circulating 25-Hydroxyvitamin D levels. The CC carriers had a significantly lower mean circulating 1,25(OH)2D level than TT carriers and CT carriers. KS subjects had significantly lower mean serum circulating 1,25(OH)2D level than controls. The receiver operating characteristic curve analysis revealed that the serum circulating 1,25(OH)2D level at the cut-off point of 16.1 ng/ml could discriminate KS subjects from controls. Conclusion: Collectively, these data provide evidence that the vitamin D/VDR pathway plays an important role in the development of KS. The TaqI gene polymorphisms of VDR and circulating 1,25(OH)2D levels may thus be used as potential markers for prediction of KS development.

Association of interleukin-6 gene polymorphisms and circulating levels with keloid scars in a Chinese Han population

“…Previous studies have demonstrated that KS is familial in nature, and its reported presence in identical twins has long indicated a genetic component to its disease pathology. However, the exact etiopathogenesis of KS remains unclear (Marneros et al, 2001;Yu et al, 2013). Using casecontrol association approaches, studies were performed to attempt to test candidate gene loci that may be involved in formation of keloid scars.…”

“…Using casecontrol association approaches, studies were performed to attempt to test candidate gene loci that may be involved in formation of keloid scars. Yu et al (2013) reported that the vitamin D/VDR pathway plays an important role in the development of KS. Han et al (2014) found that ADAM33 polymorphism may be associated with keloid scars in the northeastern Chinese population.…”

“…An increasing body of evidence indicated that genetic factors play an important role in the occurrence of KS (Nakashima et al, 2010;Shih and Bayat, 2010;Zhu et al, 2013). Several genetic markers have been identified to be associated with the diagnosis, prognosis, and development of KS (Wu et al, 2012;Yu et al, 2013;Ogawa et al, 2014).…”

Vitamin D Deficiency and Increased Risk of Bladder Carcinoma: A Meta-Analysis

“…On the contrary, individuals with vitamin D deficiency thus have higher risk of bladder carcinoma. Some studies also have found that vitamin D receptor (VDR) are also involved in the function of vitamin D, but there is no relevant study to assess the roles of VDR in bladder cancer [33,34]. Future studies may further investigate the roles of VDR in bladder cancer.…”

Association of ADAM33 Gene Polymorphisms with Keloid Scars in a Northeastern Chinese Population

“…Although the familial nature of the disease and its reported presence in identical twins has long indicated a genetic component to keloid scar pathology ,the exact aetiopathogenesis of keloid scar is unknown [18,19]. Genetic studies have yet to identify a gene or genes involved in keloid scar.…”