Literature DB >> 22983892

What will diabetes genomes tell us?

Karen L Mohlke1, Laura J Scott.   

Abstract

A new generation of genetic studies of diabetes is underway. Following from initial genome-wide association (GWA) studies, more recent approaches have used genotyping arrays of more densely spaced markers, imputation of ungenotyped variants based on improved reference haplotype panels, and sequencing of protein-coding exomes and whole genomes. Experimental and statistical advances make possible the identification of novel variants and loci contributing to trait variation and disease risk. Integration of sequence variants with functional analysis is critical to interpreting the consequences of identified variants. We briefly review these methods and technologies and describe how they will continue to expand our understanding of the genetic risk factors and underlying biology of diabetes.

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Year:  2012        PMID: 22983892      PMCID: PMC3489976          DOI: 10.1007/s11892-012-0321-4

Source DB:  PubMed          Journal:  Curr Diab Rep        ISSN: 1534-4827            Impact factor:   4.810


  59 in total

1.  Exome sequencing and the genetic basis of complex traits.

Authors:  Adam Kiezun; Kiran Garimella; Ron Do; Nathan O Stitziel; Benjamin M Neale; Paul J McLaren; Namrata Gupta; Pamela Sklar; Patrick F Sullivan; Jennifer L Moran; Christina M Hultman; Paul Lichtenstein; Patrik Magnusson; Thomas Lehner; Yin Yao Shugart; Alkes L Price; Paul I W de Bakker; Shaun M Purcell; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2012-05-29       Impact factor: 38.330

2.  The functional spectrum of low-frequency coding variation.

Authors:  Gabor T Marth; Fuli Yu; Amit R Indap; Kiran Garimella; Simon Gravel; Wen Fung Leong; Chris Tyler-Smith; Matthew Bainbridge; Tom Blackwell; Xiangqun Zheng-Bradley; Yuan Chen; Danny Challis; Laura Clarke; Edward V Ball; Kristian Cibulskis; David N Cooper; Bob Fulton; Chris Hartl; Dan Koboldt; Donna Muzny; Richard Smith; Carrie Sougnez; Chip Stewart; Alistair Ward; Jin Yu; Yali Xue; David Altshuler; Carlos D Bustamante; Andrew G Clark; Mark Daly; Mark DePristo; Paul Flicek; Stacey Gabriel; Elaine Mardis; Aarno Palotie; Richard Gibbs
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

3.  T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects.

Authors:  Q Zhu; K Yamagata; A Miura; N Shihara; Y Horikawa; J Takeda; J Miyagawa; Y Matsuzawa
Journal:  Diabetologia       Date:  2003-03-25       Impact factor: 10.122

4.  Genetic cause of hyperglycaemia and response to treatment in diabetes.

Authors:  Ewan R Pearson; Bryan J Starkey; Roy J Powell; Fiona M Gribble; Penny M Clark; Andrew T Hattersley
Journal:  Lancet       Date:  2003-10-18       Impact factor: 79.321

5.  Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes.

Authors:  Weihua Guan; Michael Boehnke; Anna Pluzhnikov; Nancy J Cox; Laura J Scott
Journal:  Genet Epidemiol       Date:  2012-08-03       Impact factor: 2.135

6.  Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.

Authors:  E R Gamazon; J A Badner; L Cheng; C Zhang; D Zhang; N J Cox; E S Gershon; J R Kelsoe; T A Greenwood; C M Nievergelt; C Chen; R McKinney; P D Shilling; N J Schork; E N Smith; C S Bloss; J I Nurnberger; H J Edenberg; T Foroud; D L Koller; W A Scheftner; W Coryell; J Rice; W B Lawson; E A Nwulia; M Hipolito; W Byerley; F J McMahon; T G Schulze; W H Berrettini; J B Potash; P P Zandi; P B Mahon; M G McInnis; S Zöllner; P Zhang; D W Craig; S Szelinger; T B Barrett; C Liu
Journal:  Mol Psychiatry       Date:  2012-01-03       Impact factor: 15.992

7.  Exome sequencing and genetic testing for MODY.

Authors:  Stefan Johansson; Henrik Irgens; Kishan K Chudasama; Janne Molnes; Jan Aerts; Francisco S Roque; Inge Jonassen; Shawn Levy; Kari Lima; Per M Knappskog; Graeme I Bell; Anders Molven; Pål R Njølstad
Journal:  PLoS One       Date:  2012-05-25       Impact factor: 3.240

Review 8.  Computational and statistical approaches to analyzing variants identified by exome sequencing.

Authors:  Nathan O Stitziel; Adam Kiezun; Shamil Sunyaev
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

9.  Incorporating prior information into association studies.

Authors:  Gregory Darnell; Dat Duong; Buhm Han; Eleazar Eskin
Journal:  Bioinformatics       Date:  2012-06-15       Impact factor: 6.937

10.  Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.

Authors:  Gaya Thanabalasingham; Aparna Pal; Mary P Selwood; Christina Dudley; Karen Fisher; Polly J Bingley; Sian Ellard; Andrew J Farmer; Mark I McCarthy; Katharine R Owen
Journal:  Diabetes Care       Date:  2012-03-19       Impact factor: 19.112

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  5 in total

Review 1.  Bringing genome-wide association findings into clinical use.

Authors:  Teri A Manolio
Journal:  Nat Rev Genet       Date:  2013-07-09       Impact factor: 53.242

2.  The study to understand the genetics of the acute response to metformin and glipizide in humans (SUGAR-MGH): design of a pharmacogenetic resource for type 2 diabetes.

Authors:  Geoffrey A Walford; Natalia Colomo; Jennifer N Todd; Liana K Billings; Marlene Fernandez; Bindu Chamarthi; A Sofia Warner; Jaclyn Davis; Katherine R Littleton; Alicia M Hernandez; Rebecca R Fanelli; Amelia Lanier; Corinne Barbato; Rachel J Ackerman; Sabina Q Khan; Rosa Bui; Laurel Garber; Elliot S Stolerman; Allan F Moore; Chunmei Huang; Varinderpal Kaur; Maegan Harden; Andrew Taylor; Ling Chen; Alisa K Manning; Paul Huang; Deborah Wexler; Rita M McCarthy; Janet Lo; Melissa K Thomas; Richard W Grant; Allison Goldfine; Margo S Hudson; Jose C Florez
Journal:  PLoS One       Date:  2015-03-26       Impact factor: 3.240

3.  Pedigree-based random effect tests to screen gene pathways.

Authors:  Marcio Almeida; Juan M Peralta; Vidya Farook; Sobha Puppala; John W Kent; Ravindranath Duggirala; John Blangero
Journal:  BMC Proc       Date:  2014-06-17

4.  Transcriptomics in type 2 diabetes: Bridging the gap between genotype and phenotype.

Authors:  Christopher P Jenkinson; Harald H H Göring; Rector Arya; John Blangero; Ravindranath Duggirala; Ralph A DeFronzo
Journal:  Genom Data       Date:  2015-12-17

Review 5.  Epigenetic modification and therapeutic targets of diabetes mellitus.

Authors:  Velayutham Ravichandiran; Dipanjan Ghosh; Rajveer Singh; Shivani Chandel; Dhritiman Dey; Arijit Ghosh; Syamal Roy
Journal:  Biosci Rep       Date:  2020-09-30       Impact factor: 3.840

  5 in total

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