Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients

Shinde, Vidyagouri; Marcinek, Patrick; Rani, Deepa Selvi; Sunder, Sharada Ramaseri; Arun, S; Jain, Suman; Nath, Indira; Thangaraj, Kumarasamy; Velavan, Thirumalaisamy P.; Valluri, Vijaya Lakshmi

doi:10.1016/j.humimm.2013.01.001

Cited by 19 publications

(12 citation statements)

References 41 publications

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“…Another prominent result of this study is that; TAP2-565 genotype AA coding for Threonine was not detected in either the patient or control groups, which was also the case in several previous studies (Ozbas-Gerceker et al 2002;Dogru et al, 2007;Shinde et al, 2013). The frequency of TAP2-565 heterozygous genotype GA was found to be significantly high in CLL cases compared to the control group (p<0.05) suggesting that this genotype could be a risk factor for the development of CLL.…”

supporting

confidence: 82%

“…Polymorphisms of TAP genes have been associated with various diseases such as tuberculosis (Wang et al, 2012), ankylosing spondylitis (Feng et al, 2009), leprosy (Shinde et al, 2013), idiopathic bronchiectasis (Dogru et al, 2007), cystic fibrosis (Ozbas-Gerceker et al, 2002) and also with the risk of occurence of several malignant tumors including colon cancer (Yang et al, 2005), cervical carcinoma (Mehta et al, 2007) and esophageal carcinoma (Cao et al, 2005). To the best of our knowledge there has been no study on the association of TAP gene polymorphisms with hematological malignancies.…”

Section: Association Of Tap1 and Tap2 Gene Polymorphisms With Hematolmentioning

confidence: 99%

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Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

Özbas‐Gerçeker

Bozman²,

Gezici³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Transporter associated with antigen presenting (TAP) 1 and TAP2 genes are localized in the major histocompatability complex (MHC) class II region and form a heterodimer playing a key role in endogenous pathways for antigen presentation. Defects of these genes have been reported to be common in different types of cancer. Polymorphisms identified in these loci have also been investigated and reported to be associated with several autoimmune disorders, viral infections and neoplasms. In the present study, for the first time, the allele and genotype frequencies of TAP1-333, TAP2-565, TAP2-651 and TAP2-665 were determined in patients with hematological malignancies (HM) using a PCR-RFLP method and compared with the frequencies in the control group. Our results suggested an association of TAP1-333 polymorphism with multiple myeloma-MM and TAP2-565 polymorphism with chronic lymphoid leukemia-CLL. In addition, it could be concluded that the TAP2-665 GG genotype might be a risk factor for all types of hematological malignancies included in this study.

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supporting

confidence: 82%

Section: Association Of Tap1 and Tap2 Gene Polymorphisms With Hematolmentioning

confidence: 99%

Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

Özbas‐Gerçeker

Bozman²,

Gezici³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…All the leprosy patients studied (n = 211) were outpatients and were recruited at the LEPRA- Blue Peter Public Health and Research Centre (BPHRC) in Hyderabad, India [23]. Patients were clinically evaluated and graded by the physicians either as a paucibacillary (PB, n = 74) or multibacillary (MB, n = 137) group, based on WHO standards [24].…”

Section: Methodsmentioning

confidence: 99%

LRRK2 and RIPK2 Variants in the NOD 2-Mediated Signaling Pathway Are Associated with Susceptibility to Mycobacterium leprae in Indian Populations

et al. 2013

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In recent years, genome wide association studies have discovered a large number of gene loci that play a functional role in innate and adaptive immune pathways associated with leprosy susceptibility. The immunological control of intracellular bacteria M. leprae is modulated by NOD2-mediated signaling of Th1 responses. In this study, we investigated 211 clinically classified leprosy patients and 230 ethnically matched controls in Indian population by genotyping four variants in NOD2 (rs9302752A/G), LRRK2 (rs1873613A/G), RIPK2 (rs40457A/G and rs42490G/A). The LRRK2 locus is associated with leprosy outcome. The LRRK2 rs1873613A minor allele and respective rs1873613AA genotypes were significantly associated with an increased risk whereas the LRRK2 rs1873613G major allele and rs1873613GG genotypes confer protection in paucibacillary and leprosy patients. The reconstructed GA haplotypes from RIPK2 rs40457A/G and rs42490G/A variants was observed to contribute towards increased risk whereas haplotypes AA was observed to confer protective role. Our results indicate that a possible shared mechanisms underlying the development of these two clinical forms of the disease as hypothesized. Our findings confirm and validates the role of gene variants involved in NOD2-mediated signalling pathways that play a role in immunological control of intracellular bacteria M. leprae.

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“…Type 2 reactions tend to be more complicated to treat than type 1 reactions, because of their systemic nature and the likelihood of recurrent episodes (34,37). (41)(42)(43)(44). In a Clinical Microbiology Reviews article from 2006, Scollard et al (12) provided a comprehensive summary of the part that genetics plays in HD susceptibility.…”

Section: Type 2 Reaction (Erythema Nodosum Leprosum)mentioning

confidence: 99%

Leprosy in the 21st Century

2015

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SUMMARY Despite significant improvements in leprosy (Hansen's disease) treatment and outlook for patients since the introduction of multidrug therapy (MDT) 3 decades ago, the global incidence remains high, and patients often have long-term complications associated with the disease. In this article, we discuss recent findings related to genetics, susceptibility, and disease reservoirs and the implications of these findings for Hansen's disease control and health outcomes for patients. We describe the continued difficulties associated with treatment of inflammatory episodes known as “leprosy reactions,” which cause much of the disability associated with the disease and can affect people for many years after MDT is complete. We also discuss some of the contemporary challenges for physicians and patients, including international and internal migration of people affected by the disease. We suggest some important areas of focus for future Hansen's disease research.

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Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients

Cited by 19 publications

References 41 publications

Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

Association of TAP1 and TAP2 Gene Polymorphisms with Hematological Malignancies

LRRK2 and RIPK2 Variants in the NOD 2-Mediated Signaling Pathway Are Associated with Susceptibility to Mycobacterium leprae in Indian Populations

Leprosy in the 21st Century

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