Related Experiment Video

Updated: Feb 23, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

24.9K

Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism

Ni Li1, David C Johnson2, Niels Weinhold3

  • 1Division of Genetics and Epidemiology, The Institute of Cancer Research, Surrey SM2 5NG, UK; Division of Molecular Pathology, The Institute of Cancer Research, Surrey SM2 5NG, UK.

Cell Reports
|September 14, 2017
PubMed

Insights

Genetic variations near the ELL2 gene on chromosome 5q15 are linked to multiple myeloma (MM) risk. A specific variant (rs6877329-C) reduces ELL2 expression, potentially hindering B cell development and promoting MM.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Multiple myeloma (MM) is a plasma cell malignancy.
  • Genome-wide association studies identified chromosome 5q15 as a risk locus for MM.

Purpose of the Study:

  • To identify the causal genetic variant at 5q15 influencing MM risk.
  • To elucidate the molecular mechanism by which this variant contributes to tumorigenesis.

Main Methods:

  • Investigated the functional role of the rs6877329 single nucleotide polymorphism (SNP).
  • Assessed enhancer activity and physical interaction with the ELL2 gene promoter.
  • Quantified ELL2 expression levels in relation to the risk allele.

Main Results:

  • The rs6877329 G>C variant is located in a predicted enhancer region interacting with the ELL2 transcription start site.
  • The risk allele (rs6877329-C) is associated with decreased enhancer activity and reduced ELL2 expression.
  • Lowered ELL2 expression correlates with impaired B cell differentiation and facilitates MM clonal expansion.

Conclusions:

  • Identified rs6877329 as a functional variant at 5q15 contributing to MM risk.
  • Demonstrated a mechanism where reduced ELL2 expression due to genetic variation promotes MM development.
  • Provides insight into the hereditary basis of multiple myeloma.
Keywords:
cancer geneticsgenome-wide association studiesmultiple myelomasingle nucleotide polymorphisms

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.1K
Repression of Multiple Myeloma Cell Growth In Vivo by Single-wall Carbon Nanotube SWCNT-delivered MALAT1 Antisense Oligos07:24

Repression of Multiple Myeloma Cell Growth In Vivo by Single-wall Carbon Nanotube SWCNT-delivered MALAT1 Antisense Oligos

Published on: December 13, 2018

6.9K

Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.3K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
30
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
5.7K