title: Association between tumour necrosis-α gene polymorphisms and acne vulgaris in a Pakistani population.
abstract: BACKGROUND
  The cytokine tumour necrosis factor (TNF)-α is a well-studied potent candidate mediator that is systemically involved in a variety of inflammatory diseases. Several single nucleotide polymorphisms (SNPs) of the TNF-α gene have been studied with regard the pathogenesis of acne vulgaris, but the results have been inconclusive.
  
  
  OBJECTIVE
  This case-control study investigated the association of the TNF -308 G>A and -238 G>A SNPs with acne vulgaris in a high-risk Pakistani population.
  
  
  METHODS
  In total, 160 healthy controls and 140 patients with acne were enrolled in this study. Polymorphisms were determined by PCR and restriction fragment length polymorphism analysis.
  
  
  RESULTS
  Our data showed that the TNF -308 G>A and TNF -238 G>A SNPs were present at a significantly higher rate in cases than in controls (P < 0.01 and P < 0.02; respectively). There was a significant difference between the G and A alleles from patients with acne and controls for -308 G>A (OR = 1.5, 95% CI = 1.07-2.19, P < 0.02) and -238 G>A (OR=1.6, 95% CI = 1.06-2.44, P = 0.02) genotype. Moreover, the severity of acne was significantly associated with TNF genotype (TNF -308 G>A: χ² = 34.6, P < 0.001; TNF -238 G>AL χ² = 12.9, P < 0.01).
  
  
  CONCLUSIONS
  Our data suggest that the TNF -308 G>A and TNF -238 G>A SNPs may contribute to the pathogenesis of acne in the study population. Furthermore, patients with severe acne showed an increased frequency of mutant TNF genotypes at -308 and -238 compared with patients with less severe acne.
authors.affiliation: Department of Biochemistry, University of Health Sciences, Lahore, Pakistan.
authors.forename: N M
authors.initials: NM
authors.lastname: Aisha
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: J
authors.initials: J
authors.lastname: Haroon
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: S
authors.initials: S
authors.lastname: Hussain
authors.affiliation: Department of Dermatology, WAPDA Hospital, Lahore, Pakistan.
authors.forename: C M
authors.initials: CM
authors.lastname: Tahir
authors.affiliation: Department of Biochemistry, University of Health Sciences, Lahore, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Ikramullah
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: H
authors.initials: H
authors.lastname: Rahim
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: N
authors.initials: N
authors.lastname: Kishwar
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: S
authors.initials: S
authors.lastname: Younis
authors.affiliation: Biochemistry Division, Department of Basic Health Sciences, Shifa College of Medicine, Islamabad, Pakistan.
authors.forename: M J
authors.initials: MJ
authors.lastname: Hassan
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Q
authors.initials: Q
authors.lastname: Javed
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D010154:Pakistan; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D055815:Young Adult
chemical_list: D014409:Tumor Necrosis Factor-alpha