A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.
Elucidation of the genetic susceptibility factors for diabetic retinopathy (DR) is important to gain insight into the pathogenesis of DR, and may help to define genetic risk factors for this condition. In the present study, we conducted a three-stage genome-wide association study (GWAS) to identify...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2014
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/2c8258329fa24c00abd347096f4fcf40 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:2c8258329fa24c00abd347096f4fcf40 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:2c8258329fa24c00abd347096f4fcf402021-11-25T05:54:52ZA genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.1932-620310.1371/journal.pone.0111715https://doaj.org/article/2c8258329fa24c00abd347096f4fcf402014-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0111715https://doaj.org/toc/1932-6203Elucidation of the genetic susceptibility factors for diabetic retinopathy (DR) is important to gain insight into the pathogenesis of DR, and may help to define genetic risk factors for this condition. In the present study, we conducted a three-stage genome-wide association study (GWAS) to identify DR susceptibility loci in Japanese patients, which comprised a total of 837 type 2 diabetes patients with DR (cases) and 1,149 without DR (controls). From the stage 1 genome-wide scan of 446 subjects (205 cases and 241 controls) on 614,216 SNPs, 249 SNPs were selected for the stage 2 replication in 623 subjects (335 cases and 288 controls). Eight SNPs were further followed up in a stage 3 study of 297 cases and 620 controls. The top signal from the present association analysis was rs9362054 in an intron of RP1-90L14.1 showing borderline genome-wide significance (Pmet = 1.4×10(-7), meta-analysis of stage 1 and stage 2, allele model). RP1-90L14.1 is a long intergenic non-coding RNA (lincRNA) adjacent to KIAA1009/QN1/CEP162 gene; CEP162 plays a critical role in ciliary transition zone formation before ciliogenesis. The present study raises the possibility that the dysregulation of ciliary-associated genes plays a role in susceptibility to DR.Takuya AwataHisakuni YamashitaSusumu KuriharaTomoko Morita-OhkuboYumi MiyashitaShigehiro KatayamaKeisuke MoriShin YoneyaMasakazu KohdaYasushi OkazakiTaro MaruyamaAkira ShimadaKazuki YasudaNao NishidaKatsushi TokunagaAsako KoikePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 11, p e111715 (2014) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Takuya Awata Hisakuni Yamashita Susumu Kurihara Tomoko Morita-Ohkubo Yumi Miyashita Shigehiro Katayama Keisuke Mori Shin Yoneya Masakazu Kohda Yasushi Okazaki Taro Maruyama Akira Shimada Kazuki Yasuda Nao Nishida Katsushi Tokunaga Asako Koike A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| description |
Elucidation of the genetic susceptibility factors for diabetic retinopathy (DR) is important to gain insight into the pathogenesis of DR, and may help to define genetic risk factors for this condition. In the present study, we conducted a three-stage genome-wide association study (GWAS) to identify DR susceptibility loci in Japanese patients, which comprised a total of 837 type 2 diabetes patients with DR (cases) and 1,149 without DR (controls). From the stage 1 genome-wide scan of 446 subjects (205 cases and 241 controls) on 614,216 SNPs, 249 SNPs were selected for the stage 2 replication in 623 subjects (335 cases and 288 controls). Eight SNPs were further followed up in a stage 3 study of 297 cases and 620 controls. The top signal from the present association analysis was rs9362054 in an intron of RP1-90L14.1 showing borderline genome-wide significance (Pmet = 1.4×10(-7), meta-analysis of stage 1 and stage 2, allele model). RP1-90L14.1 is a long intergenic non-coding RNA (lincRNA) adjacent to KIAA1009/QN1/CEP162 gene; CEP162 plays a critical role in ciliary transition zone formation before ciliogenesis. The present study raises the possibility that the dysregulation of ciliary-associated genes plays a role in susceptibility to DR. |
| format |
article |
| author |
Takuya Awata Hisakuni Yamashita Susumu Kurihara Tomoko Morita-Ohkubo Yumi Miyashita Shigehiro Katayama Keisuke Mori Shin Yoneya Masakazu Kohda Yasushi Okazaki Taro Maruyama Akira Shimada Kazuki Yasuda Nao Nishida Katsushi Tokunaga Asako Koike |
| author_facet |
Takuya Awata Hisakuni Yamashita Susumu Kurihara Tomoko Morita-Ohkubo Yumi Miyashita Shigehiro Katayama Keisuke Mori Shin Yoneya Masakazu Kohda Yasushi Okazaki Taro Maruyama Akira Shimada Kazuki Yasuda Nao Nishida Katsushi Tokunaga Asako Koike |
| author_sort |
Takuya Awata |
| title |
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| title_short |
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| title_full |
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| title_fullStr |
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| title_full_unstemmed |
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. |
| title_sort |
genome-wide association study for diabetic retinopathy in a japanese population: potential association with a long intergenic non-coding rna. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2014 |
| url |
https://doaj.org/article/2c8258329fa24c00abd347096f4fcf40 |
| work_keys_str_mv |
AT takuyaawata agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT hisakuniyamashita agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT susumukurihara agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT tomokomoritaohkubo agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT yumimiyashita agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT shigehirokatayama agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT keisukemori agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT shinyoneya agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT masakazukohda agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT yasushiokazaki agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT taromaruyama agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT akirashimada agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT kazukiyasuda agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT naonishida agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT katsushitokunaga agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT asakokoike agenomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT takuyaawata genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT hisakuniyamashita genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT susumukurihara genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT tomokomoritaohkubo genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT yumimiyashita genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT shigehirokatayama genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT keisukemori genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT shinyoneya genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT masakazukohda genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT yasushiokazaki genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT taromaruyama genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT akirashimada genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT kazukiyasuda genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT naonishida genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT katsushitokunaga genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna AT asakokoike genomewideassociationstudyfordiabeticretinopathyinajapanesepopulationpotentialassociationwithalongintergenicnoncodingrna |
| _version_ |
1718414389403451392 |