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Pulmonary Mycobacterium avium complex infection: association with NRAMP1 polymorphisms
G Tanaka1, J Shojima, I Matsushita
1Dept of Respiratory Diseases, Research Institute, International Medical Center of Japan, 1-21-1 Toyama, Tokyo 162-8655, Japan.
Genetic variations in the human natural resistance-associated macrophage protein 1 (NRAMP1) gene may influence susceptibility to pulmonary Mycobacterium avium complex (MAC) infection, particularly in individuals without comorbidities. This finding offers insights into the genetic factors underlying MAC disease.
Area of Science:
- Genetics
- Infectious Diseases
- Immunology
Background:
- Pulmonary Mycobacterium avium complex (MAC) infection affects nonimmunocompromised individuals.
- Understanding genetic risk factors is crucial for elucidating MAC pathogenesis.
Purpose of the Study:
- To identify genetic variations associated with nonimmunocompromised pulmonary MAC infection.
- To investigate the role of specific gene polymorphisms in MAC susceptibility.
Main Methods:
- Genotyping of four NRAMP1 gene polymorphisms (5'(GT)n, 469+14 G/C, D543N, 3'TGTG) using PCR.
- Evaluation of vitamin D receptor and mannose binding lectin gene polymorphisms.
- Analysis of epidemiological data in 111 pulmonary MAC patients and controls.
Main Results:
- Females showed higher susceptibility to MAC infection, primarily affecting the right middle lobe or lingula.
- Heterozygotes with minor alleles of NRAMP1 D543N and TGTG polymorphisms were less frequent in MAC cases than controls.
- This genetic association was significant in patients without comorbidity.
Conclusions:
- The human natural resistance-associated macrophage protein 1 (NRAMP1) gene may play a role in susceptibility to pulmonary MAC infection.
- NRAMP1 gene polymorphisms, specifically D543N and TGTG, are associated with reduced risk in non-comorbid individuals.
- Further research is warranted to confirm the role of NRAMP1 in MAC pathogenesis.
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