Literature DB >> 18852197

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Karen L Mohlke1, Michael Boehnke, Gonçalo R Abecasis.   

Abstract

Genome-wide association studies are providing new insights into the genetic basis of metabolic and cardiovascular traits. In the past 3 years, common variants in approximately 50 loci have been strongly associated with metabolic and cardiovascular traits. Several of these loci have implicated genes without a previously known connection with metabolism. Further studies will be required to characterize the full impact of these loci on metabolism. Many of the identified loci include multiple independent variants that influence the same metabolic or cardiovascular trait and a few loci harbor independent variants that each influence distinct traits. The total proportion of trait heritability explained by variants identified so far is still modest (typically <10%). Future studies will build on these successes by identifying additional common and rare variants and by determining the functional impact of the underlying alleles and genes.

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Year:  2008        PMID: 18852197      PMCID: PMC2570060          DOI: 10.1093/hmg/ddn275

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  52 in total

1.  Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report.

Authors: 
Journal:  Circulation       Date:  2002-12-17       Impact factor: 29.690

2.  A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.

Authors:  Dan E Arking; Arne Pfeufer; Wendy Post; W H Linda Kao; Christopher Newton-Cheh; Morna Ikeda; Kristen West; Carl Kashuk; Mahmut Akyol; Siegfried Perz; Shapour Jalilzadeh; Thomas Illig; Christian Gieger; Chao-Yu Guo; Martin G Larson; H Erich Wichmann; Eduardo Marbán; Christopher J O'Donnell; Joel N Hirschhorn; Stefan Kääb; Peter M Spooner; Thomas Meitinger; Aravinda Chakravarti
Journal:  Nat Genet       Date:  2006-04-30       Impact factor: 38.330

3.  Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes.

Authors:  Struan F A Grant; Gudmar Thorleifsson; Inga Reynisdottir; Rafn Benediktsson; Andrei Manolescu; Jesus Sainz; Agnar Helgason; Hreinn Stefansson; Valur Emilsson; Anna Helgadottir; Unnur Styrkarsdottir; Kristinn P Magnusson; G Bragi Walters; Ebba Palsdottir; Thorbjorg Jonsdottir; Thorunn Gudmundsdottir; Arnaldur Gylfason; Jona Saemundsdottir; Robert L Wilensky; Muredach P Reilly; Daniel J Rader; Yu Bagger; Claus Christiansen; Vilmundur Gudnason; Gunnar Sigurdsson; Unnur Thorsteinsdottir; Jeffrey R Gulcher; Augustine Kong; Kari Stefansson
Journal:  Nat Genet       Date:  2006-01-15       Impact factor: 38.330

4.  Common genetic variation near MC4R is associated with waist circumference and insulin resistance.

Authors:  John C Chambers; Paul Elliott; Delilah Zabaneh; Weihua Zhang; Yun Li; Philippe Froguel; David Balding; James Scott; Jaspal S Kooner
Journal:  Nat Genet       Date:  2008-05-04       Impact factor: 38.330

5.  The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.

Authors:  D Altshuler; J N Hirschhorn; M Klannemark; C M Lindgren; M C Vohl; J Nemesh; C R Lane; S F Schaffner; S Bolk; C Brewer; T Tuomi; D Gaudet; T J Hudson; M Daly; L Groop; E S Lander
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

6.  Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.

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Journal:  Nat Genet       Date:  2002-11-11       Impact factor: 38.330

7.  A common genetic variant is associated with adult and childhood obesity.

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Journal:  Science       Date:  2006-04-14       Impact factor: 47.728

8.  A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity.

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Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

9.  Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Authors:  Anna L Gloyn; Michael N Weedon; Katharine R Owen; Martina J Turner; Bridget A Knight; Graham Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Stephanie Halford; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
Journal:  Diabetes       Date:  2003-02       Impact factor: 9.461

Review 10.  Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanoma.

Authors:  Lana Pho; Douglas Grossman; Sancy A Leachman
Journal:  Curr Opin Oncol       Date:  2006-03       Impact factor: 3.645

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  34 in total

1.  Fine mapping of the association with obesity at the FTO locus in African-derived populations.

Authors:  Mohamed T Hassanein; Helen N Lyon; Thutrang T Nguyen; Ermeg L Akylbekova; Kevin Waters; Guillaume Lettre; Bamidele Tayo; Terrence Forrester; Daniel F Sarpong; Dan O Stram; Johannah L Butler; Rainford Wilks; Jiankang Liu; Loic Le Marchand; Laurence N Kolonel; Xiaofeng Zhu; Brian Henderson; Richard Cooper; Colin McKenzie; Herman A Taylor; Christopher A Haiman; Joel N Hirschhorn
Journal:  Hum Mol Genet       Date:  2010-04-29       Impact factor: 6.150

Review 2.  Genome-wide association studies: potential next steps on a genetic journey.

Authors:  Mark I McCarthy; Joel N Hirschhorn
Journal:  Hum Mol Genet       Date:  2008-10-15       Impact factor: 6.150

3.  Inborn variation in metabolism.

Authors:  Vamsi K Mootha; Joel N Hirschhorn
Journal:  Nat Genet       Date:  2010-02       Impact factor: 38.330

4.  Association of genetic variants with myocardial infarction in Japanese individuals with or without metabolic syndrome.

Authors:  Toshiki Kawamiya; Kimihiko Kato; Hideki Horibe; Kiyoshi Yokoi; Mitsutoshi Oguri; Tetsuro Yoshida; Tetsuo Fujimaki; Sachiro Watanabe; Kei Satoh; Yukitoshi Aoyagi; Yoshinori Nozawa; Toyoaki Murohara; Yoshiji Yamada
Journal:  Exp Ther Med       Date:  2010-09-10       Impact factor: 2.447

5.  Erythrocyte fatty acid composition and insulin sensitivity in daughters of Type 2 diabetic patients and women with no family history of diabetes.

Authors:  G Ntali; C Koutsari; K Karakike; P Makras; F Skopouli; M Mc Milan; C Slater; S Higgins; A Zampelas; D Malkova
Journal:  J Endocrinol Invest       Date:  2009-12-04       Impact factor: 4.256

6.  A map of open chromatin in human pancreatic islets.

Authors:  Kyle J Gaulton; Takao Nammo; Lorenzo Pasquali; Jeremy M Simon; Paul G Giresi; Marie P Fogarty; Tami M Panhuis; Piotr Mieczkowski; Antonio Secchi; Domenico Bosco; Thierry Berney; Eduard Montanya; Karen L Mohlke; Jason D Lieb; Jorge Ferrer
Journal:  Nat Genet       Date:  2010-01-31       Impact factor: 38.330

7.  A combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in European American and African American families with coronary artery disease.

Authors:  Rasika A Mathias; Yoonhee Kim; Heejong Sung; Lisa R Yanek; V J Mantese; J Enrique Hererra-Galeano; Ingo Ruczinski; Alexander F Wilson; Nauder Faraday; Lewis C Becker; Diane M Becker
Journal:  BMC Med Genomics       Date:  2010-06-07       Impact factor: 3.063

8.  Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.

Authors:  Katrin Kepp; Elin Org; Siim Sõber; Piret Kelgo; Margus Viigimaa; Gudrun Veldre; Neeme Tõnisson; Peeter Juhanson; Margus Putku; Andreas Kindmark; Viktor Kozich; Maris Laan
Journal:  BMC Med Genet       Date:  2010-01-28       Impact factor: 2.103

9.  Genome-wide association analysis of Framingham Heart Study data for the Genetics Analysis Workshop 16: effects due to medication use.

Authors:  Treva K Rice; Yun Ju Sung; Gang Shi; C Charles Gu; Dc Rao
Journal:  BMC Proc       Date:  2009-12-15

10.  Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

Authors:  Margaret Wrensch; Robert B Jenkins; Jeffrey S Chang; Ru-Fang Yeh; Yuanyuan Xiao; Paul A Decker; Karla V Ballman; Mitchel Berger; Jan C Buckner; Susan Chang; Caterina Giannini; Chandralekha Halder; Thomas M Kollmeyer; Matthew L Kosel; Daniel H LaChance; Lucie McCoy; Brian P O'Neill; Joe Patoka; Alexander R Pico; Michael Prados; Charles Quesenberry; Terri Rice; Amanda L Rynearson; Ivan Smirnov; Tarik Tihan; Joe Wiemels; Ping Yang; John K Wiencke
Journal:  Nat Genet       Date:  2009-07-05       Impact factor: 38.330

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