title: Association analysis of melanocortin 3 receptor polymorphisms with the risk of pulmonary tuberculosis.
abstract: OBJECTIVE
  Melanocortin 3 Receptor (MC3R) is one of the families of seven-transmembrane G-protein-coupled receptors, and a recent study showed that MCR3 promoter polymorphism was significantly associated with the susceptibility of tuberculosis (TB) in South African population.
  
  
  METHODS
  We analyzed six MC3R polymorphisms to examine the genetic effects on the risk of pulmonary TB in Korean subjects by using TaqMan assays and case-control analyses.
  
  
  RESULTS
  Using statistical analyses, one common promoter polymorphism (MC3R rs11575886 T > C) was found to be associated with an increased risk of pulmonary TB. The frequency of the C-bearing genotype of rs11575886 was higher in pulmonary TB patients than in normal controls (p = 0.03, OR = 1.46) although the significance was not retained after correction. In silico analysis for the difference of transcription binding factor (TF), motif between C and T allele demonstrated that the TF motif and its threshold scores of C allele were lower than those of T allele.
  
  
  CONCLUSIONS
  The C allele of rs11575886 could be a risk allele for the pulmonary TB by affecting the binding of TF. Our findings suggest that polymorphisms in MC3R might be one of genetic factors for the risk of pulmonary TB development in Korean subjects.
authors: Department of Genetic Epidemiology, SNP Genetics, Inc, Seoul, Republic of Korea.
authors: Byung Lae
authors: BL
authors: Park
authors: Lyoung Hyo
authors: LH
authors: Kim
authors: Suhg
authors: S
authors: Namgoong
authors: Ji On
authors: JO
authors: Kim
authors: Jason Yongha
authors: JY
authors: Kim
authors: Hun Soo
authors: HS
authors: Chang
authors: Jong Sook
authors: JS
authors: Park
authors: An Soo
authors: AS
authors: Jang
authors: Sung Woo
authors: SW
authors: Park
authors: Do Jin
authors: DJ
authors: Kim
authors: Ki Up
authors: KU
authors: Kim
authors: Yang Gee
authors: YG
authors: Kim
authors: Soo-Taek
authors: ST
authors: Uh
authors: Ki Hyun
authors: KH
authors: Seo
authors: Young Hoon
authors: YH
authors: Kim
authors: Choon Sik
authors: CS
authors: Park
authors: Hyoung Doo
authors: HD
authors: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D015994:Incidence; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D044104:Receptor, Melanocortin, Type 3 / Q000235:genetics*; D056910:Republic of Korea; D018570:Risk Assessment; D017678:Sex Distribution; D014397:Tuberculosis, Pulmonary / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
chemical_list: D044104:Receptor, Melanocortin, Type 3