Next-generation association studies for complex traits - PubMed (original) (raw)

Comment

Next-generation association studies for complex traits

Eleftheria Zeggini. Nat Genet. 2011.

Abstract

A new study successfully applies complementary whole-genome sequencing and imputation approaches to establish robust disease associations in an isolated population. This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex traits.

PubMed Disclaimer

Figures

Figure 1

Overview of the steps involved in a next-generation complex trait association study.

Comment on

• A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
  Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K. Holm H, et al. Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781. Nat Genet. 2011. PMID: 21378987 Free PMC article.

Similar articles

• A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
  Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K. Holm H, et al. Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781. Nat Genet. 2011. PMID: 21378987 Free PMC article.
• Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome.
  Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N. Ishikawa T, et al. Circ Arrhythm Electrophysiol. 2015 Apr;8(2):400-8. doi: 10.1161/CIRCEP.114.002534. Epub 2015 Feb 25. Circ Arrhythm Electrophysiol. 2015. PMID: 25717017
• Genetic predictors of sick sinus syndrome.
  Timasheva Y, Badykov M, Akhmadishina L, Nasibullin T, Badykova E, Pushkareva A, Plechev V, Sagitov I, Zagidullin N. Timasheva Y, et al. Mol Biol Rep. 2021 Jun;48(6):5355-5362. doi: 10.1007/s11033-021-06517-4. Epub 2021 Jun 30. Mol Biol Rep. 2021. PMID: 34195885
• In search of low-frequency and rare variants affecting complex traits.
  Panoutsopoulou K, Tachmazidou I, Zeggini E. Panoutsopoulou K, et al. Hum Mol Genet. 2013 Oct 15;22(R1):R16-21. doi: 10.1093/hmg/ddt376. Epub 2013 Aug 6. Hum Mol Genet. 2013. PMID: 23922232 Free PMC article. Review.
• Unique roles of rare variants in the genetics of complex diseases in humans.
  Momozawa Y, Mizukami K. Momozawa Y, et al. J Hum Genet. 2021 Jan;66(1):11-23. doi: 10.1038/s10038-020-00845-2. Epub 2020 Sep 18. J Hum Genet. 2021. PMID: 32948841 Free PMC article. Review.

Cited by

• How local reference panels improve imputation in French populations.
  Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
• Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance.
  Dekeyser T, Génin E, Herzig AF. Dekeyser T, et al. Genes (Basel). 2023 Feb 4;14(2):410. doi: 10.3390/genes14020410. Genes (Basel). 2023. PMID: 36833337 Free PMC article.
• Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.
  Quick C, Anugu P, Musani S, Weiss ST, Burchard EG, White MJ, Keys KL, Cucca F, Sidore C, Boehnke M, Fuchsberger C. Quick C, et al. Genet Epidemiol. 2020 Sep;44(6):537-549. doi: 10.1002/gepi.22326. Epub 2020 Jun 9. Genet Epidemiol. 2020. PMID: 32519380 Free PMC article.
• Enriching Human Interactome with Functional Mutations to Detect High-Impact Network Modules Underlying Complex Diseases.
  Cui H, Srinivasan S, Korkin D. Cui H, et al. Genes (Basel). 2019 Nov 15;10(11):933. doi: 10.3390/genes10110933. Genes (Basel). 2019. PMID: 31731769 Free PMC article.
• A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure.
  Granot-Hershkovitz E, Karasik D, Friedlander Y, Rodriguez-Murillo L, Dorajoo R, Liu J, Sewda A, Peter I, Carmi S, Hochner H. Granot-Hershkovitz E, et al. Eur J Hum Genet. 2018 Dec;26(12):1848-1858. doi: 10.1038/s41431-018-0230-3. Epub 2018 Aug 14. Eur J Hum Genet. 2018. PMID: 30108283 Free PMC article.

References

1. 1. Holm H, et al. Nat Genet. 2011;43:316–320. - PMC - PubMed
2. 1. 1000 Genomes Project Consortium. Nature. 2010;467:1061–1073. - PubMed
3. 1. Kong A, et al. Nat Genet. 2008;40:1068–1075. - PMC - PubMed
4. 1. Le SQ, Durbin R. Genome Res. 2010 PMID: 20980557. - PMC - PubMed
5. 1. Asimit J, Zeggini E. Annu Rev Genet. 2010;44:293–308. - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • Nature Publishing Group
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations