Combined linkage and association analysis of classical Hodgkin lymphoma

Oncotarget
Alastair LawrieMark A Vickers

Abstract

The heritability of classical Hodgkin lymphoma (cHL) has yet to be fully deciphered. We report a family with five members diagnosed with nodular sclerosis cHL. Genetic analysis of the family provided evidence of linkage at chromosomes 2q35-37, 3p14-22 and 21q22, with logarithm of odds score >2. We excluded the possibility of common genetic variation influencing cHL risk at regions of linkage, by analysing GWAS data from 2,201 cHL cases and 12,460 controls. Whole exome sequencing of affected family members identified the shared missense mutations p.(Arg76Gln) in FAM107A and p.(Thr220Ala) in SLC26A6 at 3p21 as being predicted to impact on protein function. FAM107A expression was shown to be low or absent in lymphoblastoid cell lines and SLC26A6 expression lower in lymphoblastoid cell lines derived from p.(Thr220Ala) mutation carriers. Expression of FAM107A and SLC26A6 was low or absent in Hodgkin Reed-Sternberg (HRS) cell lines and in HRS cells in Hodgkin lymphoma tissue. No sequence variants were detected in KLHDC8B, a gene previously suggested as a cause of familial cHL linked to 3p21. Our findings provide evidence for candidate gene susceptibility to familial cHL.

References

Jan 1, 1987·Virchows Archiv. A, Pathological Anatomy and Histopathology·T LöningJ Becker
Aug 1, 1967·The American Journal of Medicine·L SchwarzenbergJ R Schlumberger
Jan 11, 2000·Nucleic Acids Research·S T SherryK Sirotkin
Dec 4, 2001·Nature Genetics·Gonçalo R AbecasisLon R Cardon
Jun 21, 2002·Acta Microbiologica Et Immunologica Hungarica·Anna Szeles
Nov 22, 2002·American Journal of Physiology. Cell Physiology·Hannes LohiJuha Kere
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Jun 8, 2007·Nature·UNKNOWN Wellcome Trust Case Control Consortium
Jun 19, 2007·Nature Genetics·Jonathan MarchiniPeter Donnelly
Dec 17, 2008·Nature Reviews. Cancer·Ralf Küppers
May 14, 2009·Bioinformatics·M Bahlo, C J Bromhead
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Aug 27, 2009·Proceedings of the National Academy of Sciences of the United States of America·Stephen J SalipanteMarshall S Horwitz
Apr 27, 2010·Nature Genetics·Jason Z LiuJonathan Marchini
Aug 17, 2010·Nature Genetics·Sarah B NgJay Shendure
Oct 29, 2010·Genome Research·Gerton Lunter, Martin Goodson
Sep 21, 2011·Database : the Journal of Biological Databases and Curation·Junjun ZhangArek Kasprzyk
Jan 31, 2012·Journal of the National Cancer Institute·Kevin Y UrayamaJames D McKay
Apr 17, 2012·Human Pathology·Márcia Maria Costa de OliveiraIglenir João Cavalli
Jan 15, 2013·Current Protocols in Human Genetics·Ivan AdzhubeiShamil R Sunyaev
Jan 26, 2013·Science·Susanne HornRajiv Kumar
Oct 24, 2013·Nature Communications·Matthew FramptonRichard S Houlston
Sep 18, 2014·European Journal of Human Genetics : EJHG·Hauke ThomsenKari Hemminki
Oct 4, 2015·Nature·UNKNOWN 1000 Genomes Project ConsortiumGonçalo R Abecasis
Aug 9, 2016·Seminars in Hematology·Stephan MathasRalf Küppers
Oct 5, 2016·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Christopher I AmosDouglas F Easton

❮ Previous
Next ❯

Citations

Dec 14, 2018·International Journal of Molecular Sciences·Anja KretzschmarTheo Rein
May 30, 2020·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Melissa RotunnoElizabeth M Gillanders
Apr 26, 2021·Biochemical and Biophysical Research Communications·Fangjin LuPing Mu

❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing
chips
genotyping
biopsies

Software Mentioned

POLYPHEN
linkdatagen
SNPTESTv2
IMPUTE2
CASAVA
PLINK
SIFT
uTYPE
Affymetrix Power Tools ( APT
META

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.