Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population.

Scientific Reports
Gustavo Jacob LourençoCarmen Silvia Passos Lima

Abstract

Ultraviolet light exposure and cutaneous pigmentation are important host risk factors for cutaneous melanoma (CM), and it is well known that inherited ability to produce melanin varies in humans. The study aimed to identify single-nucleotide variants (SNVs) on pigmentation-related genes with importance in risk and clinicopathological aspects of CM. The study was conducted in two stages. In stage 1, 103 CM patients and 103 controls were analyzed using Genome-Wide Human SNV Arrays in order to identify SNVs in pigmentation-related genes, and the most important SNVs were selected for data validation in stage 2 by real-time polymerase-chain reaction in 247 CM patients and 280 controls. ADCY3 c.675+9196T>G, CREB1 c.303+373G>A, and MITF c.938-325G>A were selected for data validation among 74 SNVs. Individuals with CREB1 GA or AA genotype and allele "A" were under 1.79 and 1.47-fold increased risks of CM than others, respectively. Excesses of CREB1 AA and MITF AA genotype were seen in patients with tumors at Clark levels III to V (27.8% versus 13.7%) and at III or IV stages (46.1% versus 24.9%) compared to others, respectively. When compared to others, patients with ADCY3 TT had 1.89 more chances of presenting CM progression, and those...Continue Reading

References

Oct 1, 1983·The Journal of Dermatologic Surgery and Oncology·D S RigelD I Greenwald
Dec 11, 1999·Nucleic Acids Research·M Kanehisa, S Goto
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Sep 24, 2004·Physiological Reviews·Andrzej SlominskiJacobo Wortsman
Oct 4, 2005·Journal of Medical Genetics·D Baralle, M Baralle
Jan 27, 2007·The Cochrane Database of Systematic Reviews·A D SasseO A C Clark
Feb 23, 2007·Nature·Jennifer Y Lin, David E Fisher
Jun 21, 2008·International Journal of Cancer. Journal International Du Cancer·Anna A BrozynaAndrzej T Slominski
Aug 14, 2008·Cancer Biology & Therapy·Vladislava O Melnikova, Menashe Bar-Eli
Dec 17, 2008·International Journal of Cancer. Journal International Du Cancer·Andrzej SlominskiRadomir Slominski
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Aug 8, 2009·Experimental Dermatology·P M PlonkaK U Schallreuter
Sep 4, 2009·Current Protocols in Bioinformatics·Da Wei HuangRichard A Lempicki
Nov 13, 2009·Bioinformatics·Benilton S CarvalhoRafael A Irizarry
Nov 18, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Charles M BalchVernon K Sondak
Mar 29, 2011·Cold Spring Harbor Perspectives in Biology·Cindy L Will, Reinhard Lührmann
Jul 16, 2014·Archives of Biochemistry and Biophysics·Carlos Iván Rodríguez, Vijayasaradhi Setaluri
Sep 24, 2014·The Surgical Clinics of North America·Vernon K Sondak, Geoffrey T Gibney
Oct 22, 2015·Annals of Translational Medicine·Miriam PotronySusana Puig
Feb 26, 2016·Oncotarget·Anna A BrożynaAndrzej T Slominski
Jan 1, 2015·Nature Reviews. Disease Primers·Dirk SchadendorfAxel Hauschild
Jul 20, 2016·International Journal of Molecular Sciences·Stacey A N D'MelloMarjan E Askarian-Amiri
Jan 20, 2017·International Journal of Cancer. Journal International Du Cancer·Miriam PotronySusana Puig
Jun 6, 2017·Experimental Biology and Medicine·Yizhou ZhuYousin Suh
Sep 20, 2017·Cancer Letters·Satoshi AidaTakakazu Mizuno
Nov 2, 2017·Pigment Cell & Melanoma Research·Gabriela V B GomezCarmen S P Lima
Nov 16, 2018·Nature Communications·David L DuffyNicholas G Martin
Aug 2, 2019·Cancer Biology & Therapy·Lauren E DavisAlan J Tackett

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Datasets Mentioned

BETA
GSE129890

Methods Mentioned

BETA
biopsy
genotyping
PCR
RNA-Seq

Software Mentioned

R
SPSS
Bioconductor

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.