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Literature DB >> 19319666

Genetics of the P2X7 receptor and human disease.

Stephen J Fuller¹, Leanne Stokes, Kristen K Skarratt, Ben J Gu, James S Wiley.

Abstract

The P2RX7 gene is highly polymorphic, and many single nucleotide polymorphisms (SNPs) underlie the wide variation observed in P2X7 receptor responses. We review the discovery of those non-synonymous SNPs that affect receptor function and compare their frequencies in different ethnic populations. Analysis of pairwise linkage disequilibrium (LD) predicts a limited range of haplotypes. The strong LD between certain functional SNPs provides insight into published studies of the association between SNPs and human disease.

Entities: Gene Mutation Species

Year: 2009 PMID： 19319666 PMCID： PMC2686826 DOI： 10.1007/s11302-009-9136-4

Source DB: PubMed Journal: Purinergic Signal ISSN： 1573-9538 Impact factor: 3.765

28 in total

1. A haplotype map of the human genome.

Authors:
Journal: Nature Date: 2005-10-27 Impact factor: 49.962

2. P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.

Authors: Susanne Lucae; Daria Salyakina; Nicholas Barden; Mario Harvey; Bernard Gagné; Michel Labbé; Elisabeth B Binder; Manfred Uhr; Marcelo Paez-Pereda; Inge Sillaber; Marcus Ising; Tanja Brückl; Roselind Lieb; Florian Holsboer; Bertram Müller-Myhsok
Journal: Hum Mol Genet Date: 2006-07-05 Impact factor: 6.150

3. A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.

Authors: Kristen K Skarratt; Stephen J Fuller; Ronald Sluyter; Lan-Phuong Dao-Ung; Ben J Gu; James S Wiley
Journal: FEBS Lett Date: 2005-04-14 Impact factor: 4.124

4. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

Authors: D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman
Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025

5. A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.

Authors: Giulio Cabrini; Simonetta Falzoni; Sylvia L Forchap; Patrizia Pellegatti; Alessandra Balboni; Paola Agostini; Antonio Cuneo; Gianluigi Castoldi; O Roberto Baricordi; Francesco Di Virgilio
Journal: J Immunol Date: 2005-07-01 Impact factor: 5.422

6. Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.

Authors: Nicholas Barden; Mario Harvey; Bernard Gagné; Eric Shink; Monique Tremblay; Catherine Raymond; Michel Labbé; André Villeneuve; Denis Rochette; Lise Bordeleau; Herbert Stadler; Florian Holsboer; Bertram Müller-Myhsok
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2006-06-05 Impact factor: 3.568

7. A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.

Authors: Anne N Shemon; Ronald Sluyter; Suran L Fernando; Alison L Clarke; Lan-Phuong Dao-Ung; Kristen K Skarratt; Bernadette M Saunders; Khai See Tan; Ben J Gu; Stephen J Fuller; Warwick J Britton; Steven Petrou; James S Wiley
Journal: J Biol Chem Date: 2005-11-01 Impact factor: 5.157

8. Human P2X7 pore function predicts allele linkage disequilibrium.

Authors: Loren C Denlinger; Douglas B Coursin; Kathleen Schell; Giuditta Angelini; Dawn N Green; Arturo G Guadarrama; Jennifer Halsey; Usha Prabhu; Kirk J Hogan; Paul J Bertics
Journal: Clin Chem Date: 2006-04-13 Impact factor: 8.327

9. The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations.

Authors: J Burn; P Chapman; J Delhanty; C Wood; F Lalloo; M B Cachon-Gonzalez; K Tsioupra; W Church; M Rhodes; A Gunn
Journal: J Med Genet Date: 1991-05 Impact factor: 6.318

10. An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.

Authors: Ben J Gu; Ronald Sluyter; Kristen K Skarratt; Anne N Shemon; Lan-Phuong Dao-Ung; Stephen J Fuller; Julian A Barden; Alison L Clarke; Steven Petrou; James S Wiley
Journal: J Biol Chem Date: 2004-04-27 Impact factor: 5.157

52 in total

1. Purinergic signaling: a fundamental mechanism in neutrophil activation.

Authors: Yu Chen; Yongli Yao; Yuka Sumi; Andrew Li; Uyen Kim To; Abdallah Elkhal; Yoshiaki Inoue; Tobias Woehrle; Qin Zhang; Carl Hauser; Wolfgang G Junger
Journal: Sci Signal Date: 2010-06-08 Impact factor: 8.192

Review 2. A potential therapeutic role for P2X7 receptor (P2X7R) antagonists in the treatment of inflammatory diseases.

Authors: Nishkantha Arulkumaran; Robert J Unwin; Frederick Wk Tam
Journal: Expert Opin Investig Drugs Date: 2011-04-21 Impact factor: 6.206

3. Effect of P2X(7) receptor knockout on exocrine secretion of pancreas, salivary glands and lacrimal glands.

Authors: Ivana Novak; Ida M Jans; Louise Wohlfahrt
Journal: J Physiol Date: 2010-07-19 Impact factor: 5.182

4. Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.

Authors: Niklas R Jørgensen; Lise B Husted; Kristen K Skarratt; Leanne Stokes; Charlotte L Tofteng; Torben Kvist; Jens-Erik B Jensen; Pia Eiken; Kim Brixen; Stephen Fuller; Rory Clifton-Bligh; Alison Gartland; Peter Schwarz; Bente L Langdahl; James S Wiley
Journal: Eur J Hum Genet Date: 2012-01-25 Impact factor: 4.246

Review 5. Potential for developing purinergic drugs for gastrointestinal diseases.

Authors: Fernando Ochoa-Cortes; Andromeda Liñán-Rico; Kenneth A Jacobson; Fievos L Christofi
Journal: Inflamm Bowel Dis Date: 2014-07 Impact factor: 5.325

6. C terminus of the P2X7 receptor: treasure hunting.

Authors: Helio Miranda Costa-Junior; Flávia Sarmento Vieira; Robson Coutinho-Silva
Journal: Purinergic Signal Date: 2011-01-27 Impact factor: 3.765

Review 7. Neuronal P2X7 Receptors Revisited: Do They Really Exist?

Authors: Peter Illes; Tahir Muhammad Khan; Patrizia Rubini
Journal: J Neurosci Date: 2017-07-26 Impact factor: 6.167

8. The Roles of Mitochondrial Damage-Associated Molecular Patterns in Diseases.

Authors: Kiichi Nakahira; Shu Hisata; Augustine M K Choi
Journal: Antioxid Redox Signal Date: 2015-08-17 Impact factor: 8.401

9. Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity.

Authors: Robert E Sorge; Tuan Trang; Ruslan Dorfman; Shad B Smith; Simon Beggs; Jennifer Ritchie; Jean-Sebastien Austin; Dmitri V Zaykin; Heather Vander Meulen; Michael Costigan; Teri A Herbert; Merav Yarkoni-Abitbul; David Tichauer; Jessica Livneh; Edith Gershon; Ming Zheng; Keith Tan; Sally L John; Gary D Slade; Joanne Jordan; Clifford J Woolf; Gary Peltz; William Maixner; Luda Diatchenko; Ze'ev Seltzer; Michael W Salter; Jeffrey S Mogil
Journal: Nat Med Date: 2012-03-25 Impact factor: 53.440

10. Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis.

Authors: S E Jamieson; A L Peixoto-Rangel; A C Hargrave; L-A de Roubaix; E J Mui; N R Boulter; E N Miller; S J Fuller; J S Wiley; L Castellucci; K Boyer; R G Peixe; M J Kirisits; L de Souza Elias; J J Coyne; R Correa-Oliveira; M Sautter; N C Smith; M P Lees; C N Swisher; P Heydemann; A G Noble; D Patel; D Bardo; D Burrowes; D McLone; N Roizen; S Withers; L M G Bahia-Oliveira; R McLeod; J M Blackwell
Journal: Genes Immun Date: 2010-06-10 Impact factor: 2.676