Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F21%3A00078889" target="_blank" >RIV/00209805:_____/21:00078889 - isvavai.cz</a>

Result on the web

<a href="https://pubmed.ncbi.nlm.nih.gov/34622145/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/34622145/</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.20517/jtgg.2021.08" target="_blank" >10.20517/jtgg.2021.08</a>

Result language

angličtina

Original language name

Genome-wide homozygosity and risk of four non-Hodgkin lymphoma subtypes

Original language description

Aim: Recessive genetic variation is thought to play a role in non-Hodgkin lymphoma (NHL) etiology. Runs of homozygosity (ROH), defined based on long, continuous segments of homozygous SNPs, can be used to estimate both measured and unmeasured recessive genetic variation. We sought to examine genome-wide homozygosity and NHL risk. Methods: We used data from eight genome-wide association studies of four common NHL subtypes: 3061 chronic lymphocytic leukemia (CLL), 3814 diffuse large B-cell lymphoma (DLBCL), 2784 follicular lymphoma (FL), and 808 marginal zone lymphoma (MZL) cases, as well as 9374 controls. We examined the effect of homozygous variation on risk by: (1) estimating the fraction of the autosome containing runs of homozygosity (FROH); (2) calculating an inbreeding coefficient derived from the correlation among uniting gametes (F3); and (3) examining specific autosomal regions containing ROH. For each, we calculated beta coefficients and standard errors using logistic regression and combined estimates across studies using random-effects meta-analysis. Results: We discovered positive associations between FROH and CLL (β = 21.1, SE = 4.41, P = 1.6 x 10-6) and FL (β = 11.4, SE = 5.82, P = 0.02) but not DLBCL (P = 1.0) or MZL (P = 0.91). For F3, we observed an association with CLL (β = 27.5, SE = 6.51, P = 2.4 x 10-5). We did not find evidence of associations with specific ROH, suggesting that the associations observed with FROH and F3 for CLL and FL risk were not driven by a single region of homozygosity. Conclusion: Our findings support the role of recessive genetic variation in the etiology of CLL and FL; additional research is needed to identify the specific loci associated with NHL risk. Keywords: Non-Hodgkin lymphoma; chronic lymphocytic leukemia; diffuse large B-cell lymphoma; follicular lymphoma; homozygosity; marginal zone lymphoma.

Czech name

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Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

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OECD FORD branch

30204 - Oncology

Project

<a href="/en/project/LO1413" target="_blank" >LO1413: RECAMO2020</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of translational genetics and genomics

ISSN

2578-5281

e-ISSN

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Volume of the periodical

5

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

18

Pages from-to

200-217

UT code for WoS article

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EID of the result in the Scopus database

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