| Title |
Association of variants in BAT1-LTA-TNF-BTNL2 genes within 6p21.3 region show graded risk to leprosy in unrelated cohorts of Indian population
|
|---|---|
| Published in |
Human Genetics, November 2011
|
| DOI | 10.1007/s00439-011-1114-6 |
| Pubmed ID | |
| Authors |
Shafat Ali, Rupali Chopra, Shweta Aggarwal, Amit Kumar Srivastava, Ponnusamy Kalaiarasan, Dheeraj Malhotra, Sailesh Gochhait, Vijay K. Garg, S. N. Bhattacharya, Rameshwar N. K. Bamezai |
| Abstract |
Host immune response against Mycobacterium leprae plays an important role in providing resistance to infection and disease progression. Genome-wide linkage and association studies suggest the possibility of multiple risk loci within HLA (6p21.3) region. Any systematic study of relevance within the histocompatibility complex of importance in host immune response would be pertinent because of non-replication of the known loci and unavailable information on some of the unexplored genes and regions. A systematic scan was performed of the selected region involving LTA-TNF-LTB genes within 6p21.3 with a resolution of 1SNP/127 bp; and the SNPs in flanking BAT1, NFKBIL and BTNL2-DRA genes on the basis of their tag status or their presence in promoter/exonic regions with MAF of >5%. Nine SNPs located in BAT1, LTA, TNF genes and BTNL2-DRA interval showed strong association with leprosy susceptibility in two independent sets of North Indian population which was replicated in a geographically distinct East Indian population. Conditional logistic regression showed at least one functional SNP remaining significant in each gene, suggesting an independent role of each of the disease associated SNPs. In vitro reporter assay revealed that two SNPs located at BAT1 promoter and 13 kb upstream to LTA gene affected the transcription factor binding site, hence the gene expression. We unravel the role of unexplored immunologically important genes, BAT1 and BTNL2, in addition to known LTA and TNF genes, and the haplotypes of the significantly associated SNPs therein, to understand susceptibility to the disease, leprosy and its differential severity. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 37 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 27% |
| Student > Master | 6 | 16% |
| Student > Doctoral Student | 5 | 14% |
| Student > Bachelor | 4 | 11% |
| Student > Ph. D. Student | 4 | 11% |
| Other | 6 | 16% |
| Unknown | 2 | 5% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 12 | 32% |
| Agricultural and Biological Sciences | 10 | 27% |
| Medicine and Dentistry | 5 | 14% |
| Immunology and Microbiology | 3 | 8% |
| Nursing and Health Professions | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 5 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 November 2011.
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#18,300,116
of 22,656,971 outputs
Outputs from Human Genetics
#2,690
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Outputs of similar age
#117,274
of 142,871 outputs
Outputs of similar age from Human Genetics
#18
of 22 outputs
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