@article{9158,
  keywords = {Adult, DNA Mutational Analysis, Erythema Nodosum, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, leprosy, Male, Mannose-Binding Lectin, Nepal, Polymorphism, Genetic, Promoter Regions, Genetic, Receptors, Calcitriol, Tumor Necrosis Factor-alpha},
  author = {Sapkota BR and Macdonald M and Berrington WR and Misch AE and Ranjit C and Siddiqui RM and Kaplan G and Hawn TR},
  title = {Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes.},
  abstract = {<p>Although genetic variants in tumor necrosis factor (TNF), mannose binding lectin (MBL), and the vitamin D receptor (VDR) have been associated with leprosy clinical outcomes, these findings have not been extensively validated. We used a case-control study design with 933 patients in Nepal, which included 240 patients with type I reversal reaction (RR), and 124 patients with erythema nodosum leprosum (ENL) reactions. We compared genotype frequencies in 933 cases and 101 controls of seven polymorphisms, including a promoter region variant in TNF (G -308A), three polymorphisms in MBL (C154T, G161A and G170A), and three variants in VDR (FokI, BsmI, and TaqI). We observed an association between TNF -308A and protection from leprosy with an odds ratio of 0.52 (95% confidence interval = 0.29-0.95, p = 0.016). MBL polymorphism G161A was associated with protection from lepromatous leprosy (odds ratio = 0.33, 95% confidence interval = 0.12-0.85, p = 0.010). VDR polymorphisms were not associated with leprosy phenotypes. These results confirm previous findings of an association of TNF -308A with protection from leprosy and MBL polymorphisms with protection from lepromatous leprosy. The statistical significance was modest and will require further study for conclusive validation.</p>},
  year = {2010},
  journal = {Human immunology},
  volume = {71},
  pages = {992-8},
  month = {2010 Oct},
  issn = {1879-1166},
  doi = {10.1016/j.humimm.2010.07.001},
  language = {eng},
}