Genetic predisposition to disease articles from across Nature Portfolio

Genetic predisposition to disease is a latent susceptibility to a disease phenotype at the genetic level. Development of the disease is not certain; it's appearance and severity is influenced by other conditions.

Latest Research and Reviews

Research
01 June 2023 | Open Access

Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array
- Yasuaki Tomioka
- , Seiichiro Sugimoto
- & Shinichi Toyooka
Scientific Reports 13, 8912
Research
04 May 2023 | Open Access

Association of SULT1A2 rs1059491 with obesity and dyslipidaemia in southern Chinese adults
- Hai-Yan Lv
- , Guifeng Shi
- & Meixian Zhang
Scientific Reports 13, 7256
Research
24 February 2023 | Open Access

Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis

The genetic basis of primary sclerosing cholangitis has only been partially uncovered. Here, the authors perform a multitrait genome-wide association study to provide insight into the genetic etiology of primary sclerosing cholangitis risk and possible therapeutic drug targets.
- Younghun Han
- , Jinyoung Byun
- & Christopher I. Amos
Nature Communications 14, 1069
Research
18 January 2023 | Open Access

FinnGen provides genetic insights from a well-phenotyped isolated population

Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.
- Mitja I. Kurki
- , Juha Karjalainen
- & Aarno Palotie
Nature 613, 508-518
Research
05 January 2023 | Open Access

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

Li-Fraumeni syndrome (LFS) is associated with pathogenic germline TP53 variants and predisposes patients to cancer; understanding the evolution and drivers of LFS-related tumours remains crucial. Here, the authors analyse 22 LFS tumours using whole-genome sequencing and reconstruct the evolution and timing of somatic driver alterations.
- Nicholas Light
- , Mehdi Layeghifard
- & Adam Shlien
Nature Communications 14, 77
Research
04 January 2023 | Open Access

Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants
- Zannatun Nayema
- , Takehiro Sato
- & Atsushi Tajima
Journal of Human Genetics 68, 313-319

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News and Comment

Research Highlights | 06 September 2022

New evidence for the ‘cusp theory’ to explain HLA associations in SLE

New findings support the existence of an antigen presentation-independent mechanism known as the ‘cusp theory’ and the involvement of a newly discovered ‘lupus epitope’ in systemic lupus erythematosus susceptibility.
- Jessica McHugh
Nature Reviews Rheumatology 18, 552
Research Highlights | 07 May 2021

Ribosomal protein genes as sensors of aneuploidy

During development, cell competition causes apoptosis of cells with abnormal ribosomal protein profiles. Ji et al. show that this same mechanism also deletes aneuploid cells and that the deleted cell populations mainly have altered ribosomal protein gene dosages.
- Caroline Barranco
Nature Reviews Genetics 22, 414
Research Highlights | 03 December 2019

Getting wise about lost Ys

A new study has identified genetic determinants of mosaic loss of chromosome Y (LOY) in leukocytes that are also associated with increased risk of various non-haematological cancers, suggesting LOY in blood is a biomarker of genome instability in other tissues.
- Dorothy Clyde
Nature Reviews Genetics 21, 70
Research Highlights | 25 April 2019

Keeping score with obesity

A new study reports a genome-wide polygenic score (GPS) that is predictive of obesity, thus providing opportunities for early health interventions.
- Darren J. Burgess
Nature Reviews Genetics 20, 320-321
Correspondence | 18 April 2019

Health-related quality of life in sickle cell disease
- Julie A. Panepinto
- , Gregory J. Kato
- & Wally R. Smith
Nature Reviews Disease Primers 5, 27
Correspondence | 18 April 2019

Comparing health-related quality of life in chronic diseases: the importance of analyzing references
- Christine Maynié-François
- & Stéphane Burtey
Nature Reviews Disease Primers 5, 28

All News & Comment

Genetic predisposition to disease articles from across Nature Portfolio

Latest Research and Reviews

Identification of genetic loci associated with renal dysfunction after lung transplantation using an ethnic-specific single-nucleotide polymorphism array

Association of SULT1A2 rs1059491 with obesity and dyslipidaemia in southern Chinese adults

Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis

FinnGen provides genetic insights from a well-phenotyped isolated population

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants

News and Comment

New evidence for the ‘cusp theory’ to explain HLA associations in SLE

Ribosomal protein genes as sensors of aneuploidy

Getting wise about lost Ys

Keeping score with obesity

Health-related quality of life in sickle cell disease

Comparing health-related quality of life in chronic diseases: the importance of analyzing references

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