| Title |
Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka
|
|---|---|
| Published in |
Environmental Health and Preventive Medicine, June 2015
|
| DOI | 10.1007/s12199-015-0475-1 |
| Pubmed ID | |
| Authors |
Shanika Nanayakkara, STMLD Senevirathna, Nipuna B. Parahitiyawa, Tilak Abeysekera, Rohana Chandrajith, Neelakanthi Ratnatunga, Toshiaki Hitomi, Hatasu Kobayashi, Kouji H. Harada, Akio Koizumi |
| Abstract |
The 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. Whole-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. Association 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. Genetic 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. |
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 % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Sri Lanka | 1 | 1% |
| Unknown | 75 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 9 | 12% |
| Student > Master | 8 | 11% |
| Researcher | 7 | 9% |
| Professor > Associate Professor | 7 | 9% |
| Student > Ph. D. Student | 6 | 8% |
| Other | 12 | 16% |
| Unknown | 27 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 16% |
| Biochemistry, Genetics and Molecular Biology | 7 | 9% |
| Agricultural and Biological Sciences | 7 | 9% |
| Earth and Planetary Sciences | 4 | 5% |
| Computer Science | 4 | 5% |
| Other | 13 | 17% |
| Unknown | 29 | 38% |
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 26 June 2015.
All research outputs
#20,281,599
of 22,815,414 outputs
Outputs from Environmental Health and Preventive Medicine
#416
of 484 outputs
Outputs of similar age
#219,909
of 263,898 outputs
Outputs of similar age from Environmental Health and Preventive Medicine
#4
of 4 outputs
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