Major histocompatibility complex class III (C2, C4, factor B) and C3 gene variants in patients with pulmonary tuberculosis

Senbagavalli, Prakash; Kumar, Neeraj; Kaur, Gurvinder; Mehra, N. K.; Geetha, S.; Ramanathan, V. D.

doi:10.1016/j.humimm.2010.11.002

Cited by 14 publications

(16 citation statements)

References 35 publications

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“…This finding is consistent with previous studies, which had revealed increased frequencies of complement C4A deficiency in mycobacterial infections, especially in patients with pulmonary MTB [22], [36]. To the best of our knowledge, ours is the first study to report C4 deficiency at gene level in NTM infected patients.…”

Section: Discussionsupporting

confidence: 93%

“…In our study the A3, Q0 allotype reflecting C4A deficiency, had an increased occurrence among the female NTM patients. Deficiency in C4A has previously been associated to several autoimmune diseases and in adults with upper respiratory infections and pulmonary tuberculosis [22], [33]. In the recent report, C4A deficiency was suggested to predispose children and adolescents to recurrent respiratory infections.…”

Section: Discussionmentioning

confidence: 98%

“…Genetic susceptibility to pulmonary tuberculosis has been associated with major histocompatibility complex (MHC) class I, II and III regions on chromosome 6p21.3 [19], [22]. Complement genes C4 (C4A, C4B), C2 , and FB are located in the MHC class III region between the class I (HLA-A, -C, -B) and the class II (HLA-DR, -DQ, -DP) [19], [22].…”

Section: Introductionmentioning

confidence: 99%

“…Complement genes C4 (C4A, C4B), C2 , and FB are located in the MHC class III region between the class I (HLA-A, -C, -B) and the class II (HLA-DR, -DQ, -DP) [19], [22]. Pulmonary tuberculosis has been associated to human leukocyte antigen (HLA) class I and II genes in several populations with variable and moderate susceptibilities [23], [24], [25], [26], [27].…”

Section: Introductionmentioning

confidence: 99%

“…Pulmonary tuberculosis has been associated to human leukocyte antigen (HLA) class I and II genes in several populations with variable and moderate susceptibilities [23], [24], [25], [26], [27]. MHC complement genes C2, C4 , and factor B (FB) , and C3 have been studied in an Indian population showing increased frequencies of complete C4A deficiency, BF*FA and C3*F in patients with pulmonary tuberculosis compared with healthy individuals [22].…”

Section: Introductionmentioning

confidence: 99%

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Complement C4 Deficiency – A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients

et al. 2014

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BackgroundNon-tuberculous mycobacteria (NTM) are ubiquitous in the environment and they infect mainly persons with underlying pulmonary diseases but also previously healthy elderly women. Defects in host resistance that lead to pulmonary infections by NTM are relatively unknown. A few genetic defects have been associated with both pulmonary and disseminated mycobacterial infections. Rare disseminated NTM infections have been associated with genetic defects in T-cell mediated immunity and in cytokine signaling in families. We investigated whether there was an association between NTM infections and deficiencies of complement components C4A or C4B that are encoded by major histocompatibility complex (MHC).Methods50 adult patients with a positive NTM culture with symptoms and findings of a NTM disease were recruited. Patients' clinical history was collected and symptoms and clinical findings were categorized according to 2007 diagnostic criteria of The American Thoracic Society (ATS). To investigate the deficiencies of complement, C4A and C4B gene copy numbers and phenotype frequencies of the C4 allotypes were analyzed. Unselected, healthy, 149 Finnish adults were used as controls.ResultsNTM patients had more often C4 deficiencies (C4A or C4B) than controls (36/50 [72%] vs 83/149 [56%], OR = 2.05, 95%CI = 1.019–4.105, p = 0.042). C4 deficiencies for female NTM patients were more common than for controls (29/36 [81%] vs 55/100 [55%], OR = 3.39, 95% CI = 1.358–8.460, p = 0.007). C4 deficiences seemed not to be related to any specific underlying disease or C4 phenotype.Conclusions C4 deficiency may be a risk factor for NTM infection in especially elderly female patients.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Complement C4 Deficiency – A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients

et al. 2014

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A missense mutation (c.1963A<G) of the complementary component 2 (C2) gene is associated with serum Ca++ concentrations in pigs

et al. 2012

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Serum Ca(++) levels play important roles in the humoral immunity. The aim of this study was to detect quantitative trait loci and the associated positional candidate genes affecting baseline serum Ca(++) concentrations. A genome-wide association study was conducted in an F(2) intercross population between Landrace and Korean native pigs using the porcine single nucleotide polymorphism (SNP) 60 K beadchip and the PLINK program based on linear regression. Data used in the study included 410 F(2) pigs. All experimental animals were genotyped with 36,613 SNP markers located throughout the pig autosomes. We identified a strong association between a SNP marker on chromosome 7 and serum Ca(++) levels (DIAS0002191, genomic control-corrected P = 7.7 × 10(-5)). The position of DIAS0002191 was closely located to SLA class III region containing the C2 gene encoding the complementary component 2 protein, a protein which is important in the humoral immune responses. De novo sequencing of the porcine C2 gene revealed a missense mutation [c.1963A

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Genomic variants-driven drug repurposing for tuberculosis by utilizing the established bioinformatic-based approach

Irham¹,

Adikusuma²,

Perwitasari³

2022

Biochemistry and Biophysics Reports

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Major histocompatibility complex class III (C2, C4, factor B) and C3 gene variants in patients with pulmonary tuberculosis

Cited by 14 publications

References 35 publications

Complement C4 Deficiency – A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients

Complement C4 Deficiency – A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients

A missense mutation (c.1963A<G) of the complementary component 2 (C2) gene is associated with serum Ca++ concentrations in pigs

Genomic variants-driven drug repurposing for tuberculosis by utilizing the established bioinformatic-based approach

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