IL18R1 c.810-56C>T

Variant ID: 2-103003265-C-T

NM_003855.2(IL18R1):c.810-56C>T

This variant was identified in 11 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: rs2241116
PubMed Link: 37117777
Variant Present in the following documents:
  • Main text
  • 43587_2022_241_MOESM1_ESM.pdf
  • 43587_2022_Article_241.pdf
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A Multigene-Panel Study Identifies Single Nucleotide Polymorphisms Associated with Prostate Cancer Risk.

International Journal Of Molecular Sciences
Manca, Maria Antonietta MA; Scarpa, Fabio F; Cossu, Davide D; Simula, Elena Rita ER; Sanna, Daria D; Ruberto, Stefano S; Noli, Marta M; Ashraf, Hajra H; Solinas, Tatiana T; Madonia, Massimo M; Cusano, Roberto R; Sechi, Leonardo A LA
Publication Date: 2023-04-20

Variant appearance in text: rs2241116
PubMed Link: 37108754
Variant Present in the following documents:
  • ijms-24-07594.pdf
View BVdb publication page



Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations.

Frontiers In Allergy
Portelli, Michael A MA; Rakkar, Kamini K; Hu, Sile S; Guo, Yike Y; Adcock, Ian M IM; Sayers, Ian I
Publication Date: 2021

Variant appearance in text: rs2241116
PubMed Link: 35386986
Variant Present in the following documents:
  • Main text
  • falgy-02-738741.pdf
View BVdb publication page



Association of IL1R1 Coding Variant With Plasma-Level Soluble ST2 and Risk of Aortic Dissection.

Frontiers In Cardiovascular Medicine
Jiang, Wenxi W; Wang, Xue X; Gao, Pei P; Li, Fengjuan F; Lu, Ke K; Tan, Xin X; Zheng, Shuai S; Pei, Wang W; An, Meiyu M; Li, Xi X; Hu, Rong R; Zhong, Yongliang Y; Zhu, Junming J; Du, Jie J; Wang, Yuan Y
Publication Date: 2021

Variant appearance in text: rs2241116
PubMed Link: 34409081
Variant Present in the following documents:
  • Main text
  • fcvm-08-710425.pdf
View BVdb publication page



Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium.

Jci Insight
Portelli, Michael A MA; Dijk, F Nicole FN; Ketelaar, Maria E ME; Shrine, Nick N; Hankinson, Jenny J; Bhaker, Sangita S; Grotenboer, Néomi S NS; Obeidat, Ma'en M; Henry, Amanda P AP; Billington, Charlotte K CK; Shaw, Dominick D; Johnson, Simon R SR; Pogson, Zara Ek ZE; Fogarty, Andrew A; McKeever, Tricia M TM; Nickle, David C DC; Bossé, Yohan Y; van den Berge, Maarten M; Faiz, Alen A; Brouwer, Sharon S; Vonk, Judith M JM; de Vos, Paul P; Brandsma, Corry-Anke CA; Vermeulen, Cornelis J CJ; Singapuri, Amisha A; Heaney, Liam G LG; Mansur, Adel H AH; Chaudhuri, Rekha R; Thomson, Neil C NC; Holloway, John W JW; Lockett, Gabrielle A GA; Howarth, Peter H PH; Niven, Robert R; Simpson, Angela A; Blakey, John D JD; Tobin, Martin D MD; Postma, Dirkje S DS; Hall, Ian P IP; Wain, Louise V LV; Nawijn, Martijn C MC; Brightling, Christopher E CE; Koppelman, Gerard H GH; Sayers, Ian I
Publication Date: 2020-04-23

Variant appearance in text: rs2241116
PubMed Link: 32324168
Variant Present in the following documents:
  • jciinsight-5-132446-s011.pdf
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: rs2241116
PubMed Link: 30319441
Variant Present in the following documents:
  • 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: rs2241116
PubMed Link: 30008619
Variant Present in the following documents:
  • Main text
  • 12950_2018_Article_189.pdf
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: rs2241116
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Impact of cytokine and cytokine receptor gene polymorphisms on cellular immunity after smallpox vaccination.

Gene
Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; Kennedy, Richard B RB; Pankratz, V Shane VS; Vierkant, Robert A RA; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2012-11-15

Variant appearance in text: rs2241116
PubMed Link: 23009887
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: rs2241116
PubMed Link: 21742843
Variant Present in the following documents:
  • Main text
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: rs2241116
PubMed Link: 18439550
Variant Present in the following documents:
  • Main text
View BVdb publication page