Evidence map›Paper›PMID 26108971›Full record

ArticleEnvironmental health and preventive medicine2015

Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.

Shanika Nanayakkara, S T M L D Senevirathna, Nipuna B Parahitiyawa, Tilak Abeysekera, Rohana Chandrajith, Neelakanthi Ratnatunga, Toshiaki Hitomi, Hatasu Kobayashi, Kouji H Harada, Akio Koizumi

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Article in Environmental health and preventive medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

23 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  16. Genomics of Human Fibrotic Diseases: Disordered Wound Healing Response.International journal of molecular sciences · 2020
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  18. Risk factors for chronic kidney disease of non-traditional causes: a systematic review.Revista panamericana de salud publica = Pan American journal of public health · 2019
    Review
  19. Genes and environment in chronic kidney disease hotspots.Current opinion in nephrology and hypertension · 2019
    Review
  20. Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

10 authors.

Shanika NanayakkaraInstitute of Dental Research, Faculty of Dentistry, University of Sydney, Sydney, Australia, shanika.nanayakkara@sydney.edu.au.
S T M L D Senevirathna
Nipuna B Parahitiyawa
Tilak Abeysekera
Rohana Chandrajith
Neelakanthi Ratnatunga
Toshiaki Hitomi
Hatasu Kobayashi
Kouji H Harada
Akio Koizumi

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThe familial clustering observed in chronic kidney disease of uncertain etiology (CKDu) characterized by tubulointerstitial damages in the North Central Region of Sri Lanka strongly suggests the involvement of genetic factors in its pathogenesis. The objective of the present study is to use whole-exome sequencing to identify the genetic variants associated with CKDu.

methodsWhole-exome sequencing of eight CKDu cases and eight controls was performed, followed by direct sequencing of candidate loci in 301 CKDu cases and 276 controls.

resultsAssociation study revealed rs34970857 (c.658G > A/p.V220M) located in the KCNA10 gene encoding a voltage-gated K channel as the most promising SNP with the highest odds ratio of 1.74. Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome. Three out of four variants in LAMB2 were novel variants found exclusively in cases.

conclusionGenetic investigations provide strong evidence on the presence of genetic susceptibility for CKDu. Possibility of presence of several rare variants associated with CKDu in this population is also suggested.

Indexed as

ExomeCase-Control StudiesGenetic Predisposition to DiseaseHumansLamininMalePolymorphism, Single NucleotideRenal Insufficiency, ChronicRisk FactorsShaker Superfamily of Potassium ChannelsSri LankaKCNA10 protein, humanLamininlaminin beta2Shaker Superfamily of Potassium Channels

Identifiers

PMID26108971
PMCPMC4550612

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