Literature DB >> 27023774

Recurrent mutation at the classical haptoglobin structural polymorphism.

Edward J Hollox1, Louise V Wain2.   

Abstract

Polymorphism of haptoglobin in human serum was first discovered over 60 years ago. A new paper characterizes the complex structural variation at the HP locus in detail and, by using imputation from flanking SNP genotype data, shows that it affects blood cholesterol levels.

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Year:  2016        PMID： 27023774     DOI： 10.1038/ng.3534

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  12 in total

1.  Atypical segregation of haptoglobin types in man.

Authors:  H HARRIS; E B ROBSON; M SINISCALCO
Journal:  Nature       Date:  1958-11-08       Impact factor: 49.962

2.  Genetic control of some serum proteins in normal humans.

Authors:  O SMITHIES; N F WALKER
Journal:  Nature       Date:  1955-12-31       Impact factor: 49.962

3.  Grouped variations in the occurrence of new protein components in normal human serum.

Authors:  O SMITHIES
Journal:  Nature       Date:  1955-02-12       Impact factor: 49.962

4.  Duplication within the haptoglobin Hp2 gene.

Authors:  N Maeda; F Yang; D R Barnett; B H Bowman; O Smithies
Journal:  Nature       Date:  1984 May 10-16       Impact factor: 49.962

5.  A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels.

Authors:  Philippe Froguel; Ndeye Coumba Ndiaye; Amélie Bonnefond; Nabila Bouatia-Naji; Aurélie Dechaume; Gérard Siest; Bernard Herbeth; Mario Falchi; Leonardo Bottolo; Rosa-Maria Guéant-Rodriguez; Cécile Lecoeur; Michel R Langlois; Yann Labrune; Aimo Ruokonen; Said El Shamieh; Maria G Stathopoulou; Anita Morandi; Claudio Maffeis; David Meyre; Joris R Delanghe; Peter Jacobson; Lars Sjöström; Lena M S Carlsson; Andrew Walley; Paul Elliott; Marjo-Riita Jarvelin; George V Dedoussis; Sophie Visvikis-Siest
Journal:  PLoS One       Date:  2012-03-05       Impact factor: 3.240

6.  Large multiallelic copy number variations in humans.

Authors:  Robert E Handsaker; Vanessa Van Doren; Jennifer R Berman; Giulio Genovese; Seva Kashin; Linda M Boettger; Steven A McCarroll
Journal:  Nat Genet       Date:  2015-01-26       Impact factor: 38.330

7.  Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

Authors:  Linda M Boettger; Rany M Salem; Robert E Handsaker; Gina M Peloso; Sekar Kathiresan; Joel N Hirschhorn; Steven A McCarroll
Journal:  Nat Genet       Date:  2016-02-22       Impact factor: 38.330

8.  VPO1 mediates ApoE oxidation and impairs the clearance of plasma lipids.

Authors:  Youfeng Yang; Zehong Cao; Ling Tian; W Timothy Garvey; Guangjie Cheng
Journal:  PLoS One       Date:  2013-02-25       Impact factor: 3.240

9.  Molecular and population analysis of natural selection on the human haptoglobin duplication.

Authors:  Santiago Rodriguez; Dylan M Williams; Philip A I Guthrie; Wendy L McArdle; George Davey Smith; David M Evans; Tom R Gaunt; Ian N M Day
Journal:  Ann Hum Genet       Date:  2012-05-21       Impact factor: 1.670

10.  Schizophrenia risk from complex variation of complement component 4.

Authors:  Aswin Sekar; Allison R Bialas; Heather de Rivera; Avery Davis; Timothy R Hammond; Nolan Kamitaki; Katherine Tooley; Jessy Presumey; Matthew Baum; Vanessa Van Doren; Giulio Genovese; Samuel A Rose; Robert E Handsaker; Mark J Daly; Michael C Carroll; Beth Stevens; Steven A McCarroll
Journal:  Nature       Date:  2016-01-27       Impact factor: 49.962
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  2 in total

Review 1.  The Association of Haptoglobin Gene Variants and Retinopathy in Type 2 Diabetic Patients: A Meta-Analysis.

Authors:  Huiqun Wu; Huan Wu; Lili Shi; Xinlu Yuan; Ying Yin; Mingjie Yuan; Yushan Zhou; Qianwen Hu; Kui Jiang; Jiancheng Dong
Journal:  J Diabetes Res       Date:  2017-07-03       Impact factor: 4.011

2.  Phenotype-specific recombinant haptoglobin polymers co-expressed with C1r-like protein as optimized hemoglobin-binding therapeutics.

Authors:  Christian A Schaer; Catherine Owczarek; Jeremy W Deuel; Stefan Schauer; Jin Hyen Baek; Ayla Yalamanoglu; Matthew P Hardy; Pierre D Scotney; Peter M Schmidt; Matthias Pelzing; Peter Soupourmas; Paul W Buehler; Dominik J Schaer
Journal:  BMC Biotechnol       Date:  2018-03-15       Impact factor: 2.563
  2 in total

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