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A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population

Overview of attention for article published in Annals of Human Genetics, June 2017
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  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

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1 tweeter
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1 Wikipedia page

Citations

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3 Dimensions

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Title
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population
Published in
Annals of Human Genetics, June 2017
DOI 10.1111/ahg.12200
Pubmed ID
Authors

Mohammed Faruq, Jonathan J. Magaña, Varun Suroliya, Ankita Narang, Nadia M. Murillo-Melo, Oscar Hernández-Hernández, Achal K. Srivastava, Mitali Mukerji

Abstract

Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls. Subsequent validation of the findings was performed in 89 ATXN7-CAG mutation carriers and in 119 unrelated healthy controls of Mexican ancestry. The haplotype analyses showed a shared haplotype background and C allele of SNP rs6798742 (approximately 6 kb from the 3'-end of CAG repeats) is in complete association with expanded, premutation, intermediate, and the majority of large normal (≥12) CAG allele. The C allele (ancestral/chimp allele) association was validated in SCA7 subjects and healthy controls from Mexico, suggesting its substantial association with CAG expanded and expansion-prone chromosomes. Analysis of rs6798742 and other neighboring functional SNPs within 6 kb in experimental datasets (Encyclopedia of DNA Elements; ENCODE) shows functional marks that could affect transcription as well as histone methylation. An allelic association of the CAG region to an intronic SNP in two different ethnic and geographical populations suggests a -cis factor-dependent mechanism in ATXN7 CAG-region expansion.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 25%
Researcher 3 25%
Other 2 17%
Student > Ph. D. Student 2 17%
Student > Bachelor 1 8%
Other 1 8%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 42%
Neuroscience 2 17%
Arts and Humanities 1 8%
Unspecified 1 8%
Chemistry 1 8%
Other 2 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 December 2018.
All research outputs
#3,559,086
of 12,633,553 outputs
Outputs from Annals of Human Genetics
#141
of 697 outputs
Outputs of similar age
#90,377
of 266,092 outputs
Outputs of similar age from Annals of Human Genetics
#2
of 5 outputs
Altmetric has tracked 12,633,553 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 697 research outputs from this source. They receive a mean Attention Score of 4.1. This one has done well, scoring higher than 78% 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 266,092 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.