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Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Overview of attention for article published in BMC Medical Genomics, February 2018
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#33 of 2,444)
  • High Attention Score compared to outputs of the same age (94th percentile)
  • High Attention Score compared to outputs of the same age and source (95th percentile)

Mentioned by

news
4 news outlets
blogs
1 blog
patent
2 patents

Citations

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76 Dimensions

Readers on

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80 Mendeley
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Title
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India
Published in
BMC Medical Genomics, February 2018
DOI 10.1186/s12881-018-0528-6
Pubmed ID
Authors

Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson

Abstract

Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. In this study, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Further, we have analyzed exome data to identify putative MODY relevant variants in genes previously not implicated in MODY. Functional validation of MODY relevant variants was also performed. We found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%). They together account for ~ 11% of the cases. In addition to known MODY genes, we report the identification of variants in RFX6, WFS1, AKT2, NKX6-1 that may contribute to development of MODY. Functional assessment of the NKX6-1 variants showed that they are functionally impaired. Our findings showed HNF1A and ABCC8 to be the most frequently mutated MODY genes in south India. Further we provide evidence for additional MODY relevant genes, such as NKX6-1, and these require further validation.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 80 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 80 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 10 13%
Student > Bachelor 10 13%
Student > Ph. D. Student 9 11%
Researcher 7 9%
Student > Postgraduate 5 6%
Other 16 20%
Unknown 23 29%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 23 29%
Medicine and Dentistry 18 23%
Pharmacology, Toxicology and Pharmaceutical Science 4 5%
Nursing and Health Professions 2 3%
Agricultural and Biological Sciences 2 3%
Other 6 8%
Unknown 25 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 39. 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 27 April 2023.
All research outputs
#1,056,288
of 25,382,440 outputs
Outputs from BMC Medical Genomics
#33
of 2,444 outputs
Outputs of similar age
#25,936
of 455,271 outputs
Outputs of similar age from BMC Medical Genomics
#2
of 46 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 98% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 455,271 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 95% of its contemporaries.