scholarly journals Common gene variants within 3′‐untranslated regions as modulators of multiple myeloma risk and survival

2020 ◽  
Author(s):  
Ombretta Melaiu ◽  
Angelica Macauda ◽  
Juan Sainz ◽  
Diego Calvetti ◽  
Maria Sole Facioni ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Untranslated Regions ◽  
Gene Variants ◽  
Common Gene

Lipoprotein Lipase Activity and Common Gene Variants in Severely Hypertriglyceridemic Patients with and without Diabetes

2003 ◽  
Vol 60 (2) ◽  
pp. 61-67 ◽  
Author(s):  
Rita Chadarevian ◽  
Luc Foubert ◽  
Isabel Beucler ◽  
Marie-Laure Kottler ◽  
Alain Raisonnier ◽  
...  
Keyword(s):  
Lipoprotein Lipase ◽  
Lipase Activity ◽  
Gene Variants ◽  
Lipoprotein Lipase Activity ◽  
Common Gene

Common gene variants interactions related to uric acid transport are associated with knee osteoarthritis susceptibility

2018 ◽  
Vol 60 (3) ◽  
pp. 219-229 ◽  
Author(s):  
Javier Fernández-Torres ◽  
Gabriela Angélica Martínez-Nava ◽  
Francesca Oliviero ◽  
Alberto Gabriel López-Reyes ◽  
Karina Martínez-Flores ◽  
...  
Keyword(s):  
Uric Acid ◽  
Knee Osteoarthritis ◽  
Gene Variants ◽  
Acid Transport ◽  
Common Gene

scholarly journals Genetic Advances in Autism

2020 ◽  
Author(s):  
Anita Thapar ◽  
Michael Rutter
Keyword(s):  
Effect Size ◽  
Rare Variants ◽  
Current Understanding ◽  
Gene Variants ◽  
Large Effect Size ◽  
Common Gene ◽  
Genetics Research ◽  
Autism Genetics

Abstract In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.

Combined effect of common gene variants on response to drug withdrawal therapy in medication overuse headache

2014 ◽  
Vol 70 (10) ◽  
pp. 1195-1202 ◽  
Author(s):  
Sarah Cargnin ◽  
Michele Viana ◽  
Grazia Sances ◽  
Marika Bianchi ◽  
Natascia Ghiotto ◽  
...  
Keyword(s):  
Drug Withdrawal ◽  
Medication Overuse ◽  
Medication Overuse Headache ◽  
Combined Effect ◽  
Gene Variants ◽  
Common Gene ◽  
Withdrawal Therapy

Association of common gene variants in vitamin D modulating genes and colon cancer recurrence

2013 ◽  
Vol 139 (9) ◽  
pp. 1457-1464 ◽  
Author(s):  
Joanna Szkandera ◽  
Gudrun Absenger ◽  
Martin Pichler ◽  
Michael Stotz ◽  
Tanja Langsenlehner ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Vitamin D ◽  
Cancer Recurrence ◽  
Gene Variants ◽  
Common Gene ◽  
Colon Cancer Recurrence

scholarly journals RELATIONSHIP BETWEEN SINGLE NUCLEOTIDE POLYMORPHISMS IN CYTOKINE GENES AND CLINICAL LABORATORY PARAMETERS IN PATIENTS WITH MULTIPLE MYELOMA

2019 ◽  
Vol 21 (4) ◽  
pp. 703-714
Author(s):  
A. A. Pavlova ◽  
I. E. Pavlova ◽  
L. N. Bubnova ◽  
S. S. Bessmeltsev ◽  
E. V. Karyagina
Keyword(s):  
Multiple Myeloma ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Tumor Growth Inhibition ◽  
Allelic Polymorphism ◽  
Gene Variants ◽  
Single Nucleotide ◽  
Laboratory Parameters ◽  
Cytokine Genes ◽  
Β2 Microglobulin

Multiple myeloma is the most common form of paraproteinemic hemoblastosis, which is characterized by variability of clinical manifestations, forms, and variants. Limited efficiency of antitumor immune protection in the patient plays an important role in progression of this disease. Survival of myeloma cells is promoted by some growth factors, including a number of interleukins. Cytokines and chemokines are secreted in response to intercellular interactions and stimulate tumor growth, inhibition of osteoblasts and increase of the osteoclastic activity. Cytokine genes show a significant allelic polymorphism. A single gene may exhibit numerous polymorphic sites located in exons, introns and promoter regulatory areas. Single nucleotide substitutions in the promoter region of cytokine genes are known to have a huge impact upon secretion and biological activity of these factors. Therefore, a study of allelic gene variants determining the levels of cytokine production will allow of establishing new immunogenetic factors associated with a high risk of disease development, including multiple myeloma. We have studied single nucleotide polymorphism in cytokine genes (IL-1α -889 TT, IL-1β +3962 TT, IL-6 -174 GG, and IL-6 nt565 GG), and clinical laboratory parameters (serum levels of albumin, β2-microglobulin, and hemoglobin) determining severity grade of multiple myeloma in 80 patients living in the North-Western region of Russia. It was found that the presence of certain cytokine gene variants, i.e., IL-1α -889 TT, IL-1β +3962 TT, IL-6 -174 GG, IL-6 nt565 GG or IL-1α -889 TT, IL- 1β +3962 TT or IL-6 -174 GG, IL-6 nt565 GG was associated with low albumin levels (< 3.5 g/DL), and high levels of β2-microglobulin (> 5.5 mg/l). A combination of all the four negative variants in homozygous state (IL- 1α TT -889, IL-1β +3962 TT, IL-6 -174 GG and IL-6 nt565 GG) increases the chance of six-fold reduction of albumin levels (p < 0.05); combinations of homozygous IL-1α TT -889, IL-1β +3962 TT, IL-6-174 GG. and IL-6 nt565 GG are associated with increased chance of high-level β2-microglobulin (> 5.5 mg/l) by more than two times. This data allow to consider IL-1α -889 TT, IL-1β +3962 TT, IL-6 -174 GG, and IL-6 nt565 GG genotypes additional negative immunogenetic factors in the prognosis of multiple myeloma.

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