RIPK2 polymorphisms and susceptibility to tuberculosis in a Western Chinese Han population
Jiajia Song1, Tangyuheng Liu1, Lin Jiao1
1Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, PR China.
Objective:
Host genetic factors play an important role in susceptibility to Mycobacterium tuberculosis (MTB) infection and tuberculosis (TB). Receptor interacting-serine/threonine-protein kinase 2 (RIPK2) is a critical adapter protein for signal propagation of NOD2, dysregulation of which leads to defects in bacterial detection. To investigate the role of RIPK2 on the susceptibility of tuberculosis, we conducted a large sample size case-control study in a Western Chinese Han population.
Methods:
Five single-nucleotide polymorphisms (SNPs) within or near to RIPK2 were genotyped in 1359 TB cases and 1534 controls using the improved multiplex ligation detection reaction method in a case-control study.
Results:
Of the five variants, rs39509 was observed to be associated with TB risk in the allelic effects (P = 0.015), additive (P = 0.020) and recessive model (P = 0.005) after Bonferroni correction. Rs39509 might fall in putative functional regions and might be eQTL for the RIPK2 and long non-coding RNA RP11-37B2.1 according to the Genotype-Tissue Expression (GTEx) Project.
Conclusions:
Our findings firstly exhibit that the G allele of rs39509 in nearGene-3 region of RIPK2 might serve as a hazard for TB in this Western Chinese Han population. Further validation studies on a variety of ethnic populations and function experiments are needed to confirm the roles of the variants identified.
More Related Videos
12:39Antimicrobial Susceptibility Testing of Mycobacterium Tuberculosis Complex for First and Second Line Drugs by Broth Dilution in a Microtiter Plate Format
Published on: June 24, 2011
06:05Enema of Traditional Chinese Medicine for Patients with Severe Acute Pancreatitis
Published on: January 27, 2023
Related Concept Videos
Western Blotting
The technique begins with separating proteins from the sample using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), followed by protein transfer, immunoblotting, and finally, protein detection.
Conservation of Small Populations
What is Population Genetics?
Population Growth
Magnetic Susceptibility and Permeability
When diamagnetic materials are placed under an external magnetic field, the moments opposite to the field are induced. Hence, the susceptibility for diamagnets has a minimal negative value of 10-5–10-6. Since...
Single Nucleotide Polymorphisms-SNPs
