title: The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
abstract: BACKGROUND
  Despite the medical progress in treatment. Tuberculosis (TB) continues to be a serious global health problem. A genome-wide linkage study identified a major susceptibility locus on chromosomal region 8q12-q13 in Moroccan TB patients. The CYP7A1 gene is located in this region and codes for cholesterol 7a-hydroxylase, an enzyme involved in cholesterol catabolism.
  
  
  METHODS
  We selected three SNPs (rs3808607, rs8192875 and rs8192879) and studied their genotype and allele frequencies distribution in patients with pulmonary (PTB) or pleural TB (pTB), and compared them to Healthy Controls (HC). Genotyping of rs8192875 and rs8192879 SNPs was carried out using the Taq Man SNP genotyping Assay while rs3808607 was investigated by PCR-RFLP.
  
  
  RESULTS
  We reported here for the first time a statistically significant increase in the AA homozygote genotype frequency of rs3808607 in PTB patients compared to HC (p=0.02, OR=1.93, 95% CI: 1.93 (1.07;3.49). The increased risk of developing TB was maintained when we combined the groups of patients (PTB-pTB) (p=0.01, OR=1.91, 95% CI=(1.07-3.42). In contrast, no genetic association was observed between the rs8192875 or rs8192879 polymorphisms and TB.
  
  
  CONCLUSIONS
  Our investigations suggest that rs3808607 may play a role in susceptibility to TB in a Moroccan population.
authors.affiliation: Laboratory of Human Genomic, National Institute of Hygiene, Rabat, Morocco ; Laboratory of Biochemistry and Immunology, Faculty of Sciences, University Mohammed V, Rabat, Morocco.
authors.forename: Mounia
authors.initials: M
authors.lastname: Qrafli
authors.affiliation: Laboratory of Biochemistry and Immunology, Faculty of Sciences, University Mohammed V, Rabat, Morocco.
authors.forename: Youssef
authors.initials: Y
authors.lastname: Amar
authors.affiliation: Department of Pneumophtisiology, Moulay Youssef Hospital, Rabat, Morocco.
authors.forename: Jamaleddine
authors.initials: J
authors.lastname: Bourkadi
authors.affiliation: Department of Pneumophtisiology, Moulay Youssef Hospital, Rabat, Morocco.
authors.forename: Jouda
authors.initials: J
authors.lastname: Ben Amor
authors.affiliation: Department of Pneumophtisiology, Moulay Youssef Hospital, Rabat, Morocco.
authors.forename: Ghali
authors.initials: G
authors.lastname: Iraki
authors.affiliation: Laboratory of Biochemistry and Immunology, Faculty of Sciences, University Mohammed V, Rabat, Morocco.
authors.forename: Youssef
authors.initials: Y
authors.lastname: Bakri
authors.affiliation: Laboratory of Biochemistry and Immunology, Faculty of Sciences, University Mohammed V, Rabat, Morocco.
authors.forename: Saaîd
authors.initials: S
authors.lastname: Amzazi
authors.affiliation: Laboratory of Human Genomic, National Institute of Hygiene, Rabat, Morocco.
authors.forename: Ouafae
authors.initials: O
authors.lastname: Lahlou
authors.affiliation: Laboratory of Human Genomic, National Institute of Hygiene, Rabat, Morocco.
authors.forename: Fouad
authors.initials: F
authors.lastname: Seghrouchni
authors.affiliation: Laboratory of Human Genomic, National Institute of Hygiene, Rabat, Morocco.
authors.forename: Rajae
authors.initials: R
authors.lastname: El Aouad
authors.affiliation: Laboratory of Biochemistry and Immunology, Faculty of Sciences, University Mohammed V, Rabat, Morocco.
authors.forename: Khalid
authors.initials: K
authors.lastname: Sadki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002790:Cholesterol 7-alpha-Hydroxylase / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009018:Morocco / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D014376:Tuberculosis / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: C553219:CYP7A1 protein, human; D002790:Cholesterol 7-alpha-Hydroxylase
keywords: SNPs; Tuberculosis; cholesterol; cholesterol 7-alpha-hydroxylase; polymorphisms