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Association of Acid Phosphatase‐1 (ACP1) Gene Polymorphism with MAI infection.
Author(s) -
ANDAVOLU Radhika Gade,
Al Sarabi Rubakovic Anastasia,
Rodriguez Olivia Gade,
Stafford Catherine
Publication year - 2017
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.31.1_supplement.939.20
Subject(s) - biology , locus (genetics) , gene , genotype , restriction fragment length polymorphism , allele , haplotype , genetics , microbiology and biotechnology , immunology
Human acid phosphatases are normally found at low concentrations. However, pronounced changes in their synthesis occur in particular diseases, where unusually high or low enzyme expression is seen as part of the pathophysiological process. Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. Genetic polymorphisms could contribute to natural resistance or susceptibility to the disease. Genetic screens in humans link polymorphisms in or near the ACP1 locus to a variety of inflammatory diseases including allergy and asthma. ACP1 is involved in activation, adhesion, and differentiation of T cells. Though few studies have shown the presence of ACP in human tissues, no studies have been reported linking ACP1 gene polymorphism to susceptibility to infections. In this study we investigate the role of ACP1 gene polymorphism in patients infected with Mycobacterium avium and normal healthy subjects. Mycobacterium avium complex (MAC) consists of two species: M avium and M intracellulare ; because these species are difficult to differentiate, they are also collectively referred to as Mycobacterium avium‐intracellulare (MAI) . Mycobacterium avium is an environmental microorganism which also exists in multiple hosts, including humans. M. avium can invade and replicate in immunocompromised hosts and also enhances permissiveness for HIV‐1 infection. DNA was extracted from blood and PCR‐RFLP method was used to detect ACP‐1 gene polymorphism. Our study showed high frequency of ACP AB haplotype (44%) in patients with infection than in individuals with no infection (24.8%) showing a significant association with infection (p<0.006). This is the first study to show an association of ACP1 gene with MAI. Our study highlights the role of gene/s polymorphism and their possible association with infection. Support or Funding Information Eisenhower Medical Center Research funds for Infectious disease.,