IL18R1 c.-28-65C>T

Variant ID: 2-102979028-C-T

NM_003855.2(IL18R1):c.-28-65C>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


An IL1RL1 genetic variant lowers soluble ST2 levels and the risk effects of APOE-ε4 in female patients with Alzheimer's disease.

Nature Aging
Jiang, Yuanbing Y; Zhou, Xiaopu X; Wong, Hiu Yi HY; Ouyang, Li L; Ip, Fanny C F FCF; Chau, Vicky M N VMN; Lau, Shun-Fat SF; Wu, Wei W; Wong, Daniel Y K DYK; Seo, Heukjin H; Fu, Wing-Yu WY; Lai, Nicole C H NCH; Chen, Yuewen Y; Chen, Yu Y; Tong, Estella P S EPS; , ; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Mok, Kin Y KY; Shoai, Maryam M; Lehallier, Benoit B; Losada, Patricia Morán PM; O'Brien, Eleanor E; Porter, Tenielle T; Laws, Simon M SM; Hardy, John J; Wyss-Coray, Tony T; Masters, Colin L CL; Fu, Amy K Y AKY; Ip, Nancy Y NY
Publication Date: 2022-07

Variant appearance in text: rs2287037
PubMed Link: 37117777
Variant Present in the following documents:
  • 43587_2022_241_MOESM1_ESM.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs2287037
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2287037
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults.

The Journal Of Allergy And Clinical Immunology
Dahlin, Amber A; Sordillo, Joanne E JE; Ziniti, John J; Iribarren, Carlos C; Lu, Meng M; Weiss, Scott T ST; Tantisira, Kelan G KG; Lu, Quan Q; Kan, Mengyuan M; Himes, Blanca E BE; Jorgenson, Eric E; Wu, Ann Chen AC
Publication Date: 2019-04

Variant appearance in text: rs2287037
PubMed Link: 30578877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2287037
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Caspase recruitment domain (CARD) family (CARD9, CARD10, CARD11, CARD14 and CARD15) are increased during active inflammation in patients with inflammatory bowel disease.

Journal Of Inflammation (London, England)
Yamamoto-Furusho, Jesús K JK; Fonseca-Camarillo, Gabriela G; Furuzawa-Carballeda, Janette J; Sarmiento-Aguilar, Andrea A; Barreto-Zuñiga, Rafael R; Martínez-Benitez, Braulio B; Lara-Velazquez, Montserrat A MA
Publication Date: 2018

Variant appearance in text: rs2287037
PubMed Link: 30008619
Variant Present in the following documents:
  • Main text
  • 12950_2018_Article_189.pdf
View BVdb publication page



Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs2287037
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2287037
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs2287037
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
View BVdb publication page



Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study.

Bmc Musculoskeletal Disorders
Omair, Ahmad A; Holden, Marit M; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI
Publication Date: 2013-03-22

Variant appearance in text: rs2287037
PubMed Link: 23522322
Variant Present in the following documents:
  • Main text
  • 1471-2474-14-105.pdf
View BVdb publication page



An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration.

The Open Orthopaedics Journal
Omair, Ahmad A; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI
Publication Date: 2012

Variant appearance in text: rs2287037
PubMed Link: 22550553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common SNPs/haplotypes in IL18R1 and IL18 genes are associated with variations in humoral immunity to smallpox vaccination in Caucasians and African Americans.

The Journal Of Infectious Diseases
Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Dhiman, Neelam N; Kennedy, Richard B RB; O'Byrne, Megan M; Pankratz, V Shane VS; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2011-08-01

Variant appearance in text: rs2287037
PubMed Link: 21742843
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of interleukin 1 receptor-like 1 in immune and inflammatory diseases.

Current Genomics
Akhabir, Loubna L; Sandford, Andrew A
Publication Date: 2010-12

Variant appearance in text: rs2287037
PubMed Link: 21629437
Variant Present in the following documents:
  • Main text
  • CG-11-591.pdf
View BVdb publication page



Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.

Bmc Medical Genetics
Näkki, Annu A; Kouhia, Sanna T ST; Saarela, Janna J; Harilainen, Arsi A; Tallroth, Kaj K; Videman, Tapio T; Battié, Michele C MC; Kaprio, Jaakko J; Peltonen, Leena L; Kujala, Urho M UM
Publication Date: 2010-03-30

Variant appearance in text: rs2287037
PubMed Link: 20353565
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-50.pdf
View BVdb publication page



Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

American Journal Of Human Genetics
Zhernakova, Alexandra A; Festen, Eleanora M EM; Franke, Lude L; Trynka, Gosia G; van Diemen, Cleo C CC; Monsuur, Alienke J AJ; Bevova, Marianna M; Nijmeijer, Rian M RM; van 't Slot, Ruben R; Heijmans, Roel R; Boezen, H Marike HM; van Heel, David A DA; van Bodegraven, Adriaan A AA; Stokkers, Pieter C F PC; Wijmenga, Cisca C; Crusius, J Bart A JB; Weersma, Rinse K RK
Publication Date: 2008-05

Variant appearance in text: rs2287037
PubMed Link: 18439550
Variant Present in the following documents:
  • Main text
View BVdb publication page