The RETN gene rs1862513 polymorphism as a novel predisposing marker for familial Acne vulgaris in a Pakistani population

Document Type: Research Brief

Authors

1 Department of Biosciences, COMSATS Institute of Information Technology, Islamabad-46000, Pakistan

2 Department of surgery, Government Post Graduate Medical Institute, Lady Reading Hospital, Peshawar, Pakistan

3 Department of Internal Medicine, Shifa College of Medicine, Shifa International Hospital, H-8/4, Islamabad, Pakistan

Abstract

Resistin (RETN), recently found to be relevant to inflammation and inflammatory disorders. We, therefore, aimed to investigate the potential role of RETN gene polymorphism in pathogenesis of acne vulgaris with familial history. We investigated the RETN-420C/G polymorphism in 180 patients with acne vulgaris and 180 healthy individuals in a case-control association analysis. In this study, we also investigated the heritability of the RETN susceptible allele from 140 trio families with acne affected offspring. The genotyping was performed by polymerase chain reaction and direct DNA sequencing.The RETN-420C/G polymorphism was significantly associated with acne in patients compared with healthy controls (P=0.014). The minor allele G at -420 was more prevalent in cases vs. controls (P=0.002). The RETN-420C/G polymorphism was significantly associated with severity of acne vulgaris in patients (P=0.0097). The results of a transmission disequilibrium test revealed a significant association between the RETN-420C/G polymorphism and acne vulgaris (P<0.001). For the first time in the literature, to our knowledge, we demonstrate a significant association of the RETN-420C/G functional polymorphism with familial acne vulgaris.

Keywords


1. Zouboulis CC, Eady A, Philpott M, Goldsmith LA, Orfanos C, Cunliffe WC, et al. What is the pathogenesis of acne? Exp Dermatol 2005; 14:143-152.

2. Al-Shobaili HA, Salem TA, Alzolibani AA, Robaee AA, Settin AA, et al. Tumor necrosis factor-α -308 G/A and interleukin 10 -1082 A/G gene polymorphisms in patients with Acne vulgaris. J Dermatol Sci 2012; 68:52-55.

3. Doshi A, Zaheer A, Stiller MJ. A comparison of current acne grading systems and proposal of a novel system. Int J Dermatol 1997; l36:416-418.

4. Steppan CM, Bailey ST, Bhat S, Brown EJ, Banerjee RR, Wright CM, et al. The hormone resistin links obesity to diabetes. Nature 2001; 409: 307-312.

5. Osawa H, Yamada K, Onuma H, Murakami A, Ochi M, Kawata H, et al. The G/G genotype of a resistin single nucleotide polymorphism at −420 increases type 2 diabetes mellitus susceptibility by inducing promoter activity through specific binding of Sp1/3. Am J Hum Genet 2004; 75: 678-686.

6. Pang SS, Le YY. Role of resistin in inflammation and inflammatory-related diseases. Cell Mol Immunol 2006; 3:29-34.

7. Harrison WJ, Bull JJ, Seltmann H, Zouboulis CC, Philpott MP. Expression of lipogenic factors galectin-12, resistin, SREBP-1, and SCD in human sebaceous glands and cultured sebocytes. J Invest Dermatol 2007; 127:1309-1317.

8. Johnston A, Arnadottir S, Gudjonsson JE, Aphale A, Sigmarsdottir AA, Gunnarsson SI, et al. Obesity in psoriasis: leptin and resistin as mediators of cutaneous inflammation. Br J Dermatol 2008; 159:342-350.

9. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52:506-516.

10. Di-Landro A, Cazzaniga S, Parazzini F, et al. Family history, body mass index, selected dietary factors, menstrual history, and risk of moderate to severe acne in adolescents and young adults. J Am Acad Dermatol 2012; 67:1129-1135.