The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population
作者： Mounia Qrafli , Youssef Amar , Jamaleddine Bourkadi , Jouda Ben Amor , Ghali Iraki
DOI: 10.11604/PAMJ.2014.18.1.3397
关键词: Tuberculosis 、 Population 、 Genotyping 、 Medicine 、 Genotype frequency 、 Genotype 、 SNP genotyping 、 Gastroenterology 、 Internal medicine 、 Allele frequency 、 Chromosomal region
摘要: INTRODUCTION: Despite the medical progress in treatment. Tuberculosis (TB) continues to be a serious global health problem. A genome-wide linkage study identified major susceptibility locus on chromosomal region 8q12-q13 Moroccan TB patients. The CYP7A1 gene is located this and codes for cholesterol 7a-hydroxylase, an enzyme involved catabolism. METHODS: We selected three SNPs (rs3808607, rs8192875 rs8192879) studied their genotype allele frequencies distribution patients with pulmonary (PTB) or pleural (pTB), compared them Healthy Controls (HC). Genotyping of rs8192879 was carried out using Taq Man SNP genotyping Assay while rs3808607 investigated by PCR-RFLP. RESULTS: reported here first time statistically significant increase AA homozygote frequency PTB HC (p = 0.02, OR 1.93, 95% CI: 1.93 (1.07;3.49). increased risk developing maintained when we combined groups (PTB-pTB) 0.01, OR= 1.91, CI (1.07 - 3.42). In contrast, no genetic association observed between polymorphisms TB. CONCLUSION: Our investigations suggest that may play role population.
sci-hub.se 参考文章(32)
Margrit Schwarz, Erik G. Lund, David W. Russell, Two 7α‐hydroxylase enzymes in bile acid biosynthesis Current Opinion in Lipidology. ,vol. 9, pp. 113- 118 ,(1998) , 10.1097/00041433-199804000-00006
H. Lamsyah, B. Rueda, L. Baassi, R. Elaouad, N. Bottini, K. Sadki, J. Martin, Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. Tissue Antigens. ,vol. 74, pp. 228- 232 ,(2009) , 10.1111/J.1399-0039.2009.01304.X
He-Zuo Lü, An-You Zhu, Yong Chen, Jie Tang, Bai-Qing Li, Formation and aggregation of lipid rafts in γδ T cells following stimulation with Mycobacterium tuberculosis antigens. Tohoku Journal of Experimental Medicine. ,vol. 223, pp. 193- 198 ,(2011) , 10.1620/TJEM.223.193
M K Hofman, M Groenendijk, P J J H Verkuijlen, I J A M Jonkers, M F Mohrschladt, A H M Smelt, H M G Princen, Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals. European Journal of Human Genetics. ,vol. 12, pp. 935- 941 ,(2004) , 10.1038/SJ.EJHG.5201236
Irene V. Lambrinoudaki, George I. Kaparos, Sofia A. Vlachou, Kimon S. Stamatelopoulos, George A. Georgiopoulos, Thodoris N. Sergentanis, Constantinos P. Panoulis, George E. Christodoulakos, Andreas P. Alexandrou, Evangelia E. Kouskouni, Maria G. Creatsa, Christos M. Papamichael, CYP A-204C polymorphism is associated with subclinical atherosclerosis in postmenopausal women. Menopause. ,vol. 15, pp. 1163- 1168 ,(2008) , 10.1097/GME.0B013E31817727C3
Hannelie Korf, Seppe Vander Beken, Marta Romano, Knut R. Steffensen, Benoît Stijlemans, Jan-υke Gustafsson, Johan Grooten, Kris Huygen, Liver X receptors contribute to the protective immune response against Mycobacterium tuberculosis in mice Journal of Clinical Investigation. ,vol. 119, pp. 1626- 1637 ,(2009) , 10.1172/JCI35288
Takahiro Taniguchi, Beatriz Levy-Wilson, Allen D. Cooper, Jean Chen, Mary Jane Botelho-Yetkinler, Yicheng Cao, Characterization of Hepatic-specific Regulatory Elements in the Promoter Region of the Human Cholesterol 7α-Hydroxylase Gene Journal of Biological Chemistry. ,vol. 272, pp. 3444- 3452 ,(1997) , 10.1074/JBC.272.6.3444
A. K. Pandey, C. M. Sassetti, Mycobacterial persistence requires the utilization of host cholesterol Proceedings of the National Academy of Sciences of the United States of America. ,vol. 105, pp. 4376- 4380 ,(2008) , 10.1073/PNAS.0711159105
J Wang, D J Freeman, S M Grundy, D M Levine, R Guerra, J C Cohen, Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations. Journal of Clinical Investigation. ,vol. 101, pp. 1283- 1291 ,(1998) , 10.1172/JCI1343
Gourdas Choudhuri, Balraj Mittal, Anvesha Srivastava, CYP7A1 (−204 A>C; rs3808607 and −469 T>C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population Metabolism-clinical and Experimental. ,vol. 59, pp. 767- 773 ,(2010) , 10.1016/J.METABOL.2009.09.021