title: Resistin gene polymorphisms are associated with acne and serum lipid levels, providing a potential nexus between lipid metabolism and inflammation.
abstract: Acne vu lgaris is a multifactorial inflammatory skin disease causing social stigma and psychological effect on patients. We hypothesized that the genes that can affect both lipid metabolism and inflammation may be central for acne formation and present targets for treatment. Pro-inflammatory adipokine resistin, one such likely target, activates NFkB and JNK pathways inducing TLR-2, IL-1, IL-6, and TNFα genes. The polymorphisms in promoter and intron region of the resistin gene affect its expression levels. Therefore, we explored the association of resistin polymorphisms (RETN +299G > A and -420C > G) with pathogenesis of acne vulgaris. We used PCR-RFLP method to genotype at the two single nucleotide polymorphisms at RETN promoter in 530 acne patients vs. 550 age- and sex-matched control subjects. We also measured serum lipid levels in acne patients and associated these with RETN genotypes. We found that the RETN gene polymorphisms are strongly associated with acne vulgaris and the severity of acne symptoms. In females the variant allele frequencies of both SNPs are statistically higher in patients than in controls; in males frequency distribution does not reach significance. The haplotype containing both variant alleles is significantly more common in patients than in controls. We find no association of RETN SNPs with the acne types. Importantly, we found that the levels of HDL-C were significantly decreased in variant genotype of RETN. Our results show that the RETN polymorphisms expected to boost resistin expression increase the risk of developing acne. We suggest that resistin may provide an attractive target for treatment.
authors: Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan. sidra.younis@gmail.com.|The R.O.Perelman Department of Dermatology, NYU Langone Medical Center, New York, USA. sidra.younis@gmail.com.|Department of Biochemistry and Molecular Pharmacology, NYU Langone Medical Center, New York, USA. sidra.younis@gmail.com.|NYU School of Medicine, 455 First Avenue, P.H.B. Room #843A, New York, NY, 10016, USA. sidra.younis@gmail.com.
authors: Sidra
authors: S
authors: Younis
authors: The R.O.Perelman Department of Dermatology, NYU Langone Medical Center, New York, USA.|Department of Biochemistry and Molecular Pharmacology, NYU Langone Medical Center, New York, USA.|NYU School of Medicine, 455 First Avenue, P.H.B. Room #843A, New York, NY, 10016, USA.
authors: Miroslav
authors: M
authors: Blumenberg
authors: Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
authors: Qamar
authors: Q
authors: Javed
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics*; D000328:Adult; D016207:Cytokines / Q000096:biosynthesis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007249:Inflammation / Q000235:genetics; D050356:Lipid Metabolism / Q000235:genetics; D008055:Lipids / Q000097:blood*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011425:Propionibacterium acnes / Q000472:pathogenicity; D052243:Resistin / Q000235:genetics*; D051195:Toll-Like Receptor 2 / Q000096:biosynthesis; D055815:Young Adult
chemical_list: D016207:Cytokines; D008055:Lipids; C499624:RETN protein, human; D052243:Resistin; C495342:TLR2 protein, human; D051195:Toll-Like Receptor 2
keywords: Acne vulgaris; Inflammation; Lipid metabolism; Resistin; Sebocytes