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5-HT2C receptor and MAO-A interaction analysis: no association with suicidal behaviour in bipolar patients.

https://arctichealth.org/en/permalink/ahliterature157011
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Publication Type
Article
Date
Oct-2008
Author
Vincenzo De Luca
Subi Tharmaligam
John Strauss
James L Kennedy
Author Affiliation
Dept. of Psychiatry, University of Toronto, 250 College Street, R-30, Toronto (ON), Canada M5T 1R8. vincenzo_deluca@camh.net
Source
Eur Arch Psychiatry Clin Neurosci. 2008 Oct;258(7):428-33
Date
Oct-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Bipolar Disorder - genetics - psychology
Canada
Family Health
Female
Gene Frequency
Genes, X-Linked
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Male
Middle Aged
Monoamine Oxidase - genetics
Nuclear Family
Polymorphism, Single Nucleotide
Receptor, Serotonin, 5-HT2C - genetics
Suicide, Attempted - psychology
Young Adult
Abstract
The serotonin 2C (HTR2C) receptor has been implicated in suicide-related behaviours, however there are not many studies to date about HTR2C and suicidality. We studied HTR2C haplotypes in suicide attempters, where our sample composed of 306 families with at least one member affected by bipolar disorder. HTR2C (Cys23Ser and a common STR in the promoter) variants were analyzed with respect to attempter status and the severity of suicidal behaviour. The X-linked haplotype analysis in relation to suicide attempt did not reveal any significant association. Furthermore, we performed a particular gene-gene interaction for the X-linked serotonergic genes (HTR2C and MAOA), and found no association among this intergenic haplotype combination and suicidal behaviour in bipolar disorder.
PubMed ID
18504633 View in PubMed
Less detail

-160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer.

https://arctichealth.org/en/permalink/ahliterature17926
Source
Int J Cancer. 2004 Apr 10;109(3):348-52
Publication Type
Article
Date
Apr-10-2004
Author
Jonsson B-A
Adami H-O
Hägglund M
Bergh A
Göransson I
Stattin P
Wiklund F
Grönberg H
Author Affiliation
Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden.
Source
Int J Cancer. 2004 Apr 10;109(3):348-52
Date
Apr-10-2004
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Cadherins - genetics
Case-Control Studies
Comparative Study
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Promoter Regions (Genetics)
Prostate
Prostatic Neoplasms - epidemiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Abstract
The E-cadherin (CDH1) gene has been associated with prostate carcinogenesis. The C/A polymorphism--160 base pairs relative to the transcription start site has been shown to decrease gene transcription. We analyzed the association between this polymorphism and the risk of sporadic, familial (2 close relatives) and hereditary (3 or more close relatives) prostate cancer. We combined data from 3 population-based epidemiologic studies in Sweden encompassing altogether 1,036 prostate cancer cases and 669 controls that were genotyped for the short nucleotide polymorphism. Odds ratios with 95% confidence intervals were estimated through unconditional logistic regression. We found no significant association between the A-allele and sporadic (OR = 1.0; 95% CI = 0.8-1.2) or familial (OR = 1.4; 95% CI = 0.9-2.2) prostate cancer. In contrast, risk of hereditary cancer was increased among heterozygote CA carriers (OR = 1.7; 95% CI = 1.0-2.7) and particularly among homozygote AA carriers (OR = 2.6; 95% CI = 1.4-4.9). Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer.
PubMed ID
14961571 View in PubMed
Less detail

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

https://arctichealth.org/en/permalink/ahliterature165637
Source
Bone. 2007 Apr;40(4):1006-12
Publication Type
Article
Date
Apr-2007
Author
Anne Saarinen
Ville-Valtteri Välimäki
Matti J Välimäki
Eliisa Löyttyniemi
Kirsi Auro
Piia Uusen
Mairi Kuris
Anna-Elina Lehesjoki
Outi Mäkitie
Author Affiliation
Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Source
Bone. 2007 Apr;40(4):1006-12
Date
Apr-2007
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Bone Density - genetics
Calcifediol - blood
Finland
Fractures, Bone - etiology - genetics
Gene Frequency
Humans
LDL-Receptor Related Proteins - genetics
Low Density Lipoprotein Receptor-Related Protein-5
Male
Military Personnel
Osteoporosis - etiology - genetics
Parathyroid Hormone - blood
Polymorphism, Single Nucleotide
Risk factors
Abstract
Polymorphisms in the gene coding for low-density lipoprotein receptor-related protein 5 (LRP5) contribute to variation in bone mass in the general population. Whether this is due to influence on bone mass acquisition or on bone loss thereafter has not been established.
We studied the association of LRP5 polymorphisms with peak bone mass in young men. The study included 235 Finnish men, aged 18.3 to 20.6 years. Lifestyle factors and fracture history were recorded. Bone mineral content (BMC), density (BMD) and scan area were measured for the lumbar spine and proximal femur by dual energy X-ray absorptiometry (DXA). Blood and urine were collected for determination of bone turnover markers, serum 25-OHD and PTH. Genomic DNA was extracted from peripheral blood for genetic analysis of LRP5. Ten single nucleotide polymorphisms in LRP5 were analyzed and correlated with bone parameters.
Only the A1330V polymorphism of LRP5 significantly associated with bone parameters. In comparison with subjects with the AlaAla genotype (n=215), those with AlaVal genotype (n=20) had lower femoral neck BMC (P=0.029) and BMD (P=0.012), trochanter BMC (P=0.0067) and BMD (P=0.015), and total hip BMC (P=0.0044) and BMD (P=0.0089). Fracture history was similar for the genotypes.
The polymorphic valine variant at position 1330 of LRP5 was significantly associated with reduced BMC and BMD values in healthy young Finnish men. The results provide evidence for the crucial role of LRP5 in peak bone mass acquisition.
PubMed ID
17223614 View in PubMed
Less detail

ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.

https://arctichealth.org/en/permalink/ahliterature140771
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Publication Type
Article
Date
Oct-2010
Author
Frank E Döring
Simone Onur
Ulf Geisen
Marcel R Boulay
Louis Pérusse
Tuomo Rankinen
Rainer Rauramaa
Bernd Wolfahrt
C. Bouchard
Author Affiliation
Institute of Human Nutrition and Food Science, Christian-Albrechts-University Kiel, Kiel, Germany. vgoyrgoy@phyed.duth.gr
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Date
Oct-2010
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Athletes
Athletic Performance
European Continental Ancestry Group - genetics
Finland
Gene Frequency
Genotype
Germany
Homozygote
Humans
Male
North America
Odds Ratio
Physical Endurance - genetics
Polymorphism, Single Nucleotide
Abstract
Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to a-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging single nucleotide polymorphisms (htSNPs) of the ACTN3 gene (rs1791690 and rs2275998) in the Genathlete study comprising 316 male elite endurance athletes (VO2max 79.0+3.5 ml · kg(-1) · min(-1); mean +/- s) from North America, Finland, and Germany and 304 sedentary controls (VO2max 40.1+7.0 ml · kg(-1) · min(-1) matched by country of origin. The distribution of genotype and allele frequencies between the two groups was tested by Pearson chi-square and/or Fischer exact test. The prevalence of the 577X homozygote genotype was similar in endurance athletes and controls (20% and 17.5%, respectively). The resulting odds ratio for endurance performance in 577X homozygotes compared with 577R-allele carriers was 1.24 (95%CI 0.82-1.87, P = 0.3). The genotype distribution of the two htSNPs and haplotype frequencies did not differ significantly between athletes and controls. In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males.
PubMed ID
20845221 View in PubMed
Less detail

Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome.

https://arctichealth.org/en/permalink/ahliterature90739
Source
Genes Immun. 2009 Jan;10(1):68-76
Publication Type
Article
Date
Jan-2009
Author
Nordmark G.
Kristjansdottir G.
Theander E.
Eriksson P.
Brun J G
Wang C.
Padyukov L.
Truedsson L.
Alm G.
Eloranta M-L
Jonsson R.
Rönnblom L.
Syvänen A-C
Author Affiliation
Section of Rheumatology, Uppsala University, Uppsala, Sweden. Gunnel.Nordmark@medsci.uu.se
Source
Genes Immun. 2009 Jan;10(1):68-76
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Asian Continental Ancestry Group - genetics - statistics & numerical data
Case-Control Studies
Cohort Studies
Confidence Intervals
European Continental Ancestry Group - genetics - statistics & numerical data
Female
Gene Frequency
Haplotypes
Heterozygote
Humans
Interferon Regulatory Factors - genetics - immunology
Linear Models
Linkage Disequilibrium
Male
Middle Aged
Norway
Odds Ratio
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Probability
Risk factors
STAT4 Transcription Factor - genetics - immunology
Sjogren's Syndrome - genetics - immunology
Sweden
Abstract
Primary Sj?gren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5, the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) >1.4 and P-values
PubMed ID
19092842 View in PubMed
Less detail

Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study.

https://arctichealth.org/en/permalink/ahliterature165769
Source
Am J Clin Nutr. 2007 Jan;85(1):26-34
Publication Type
Article
Date
Jan-2007
Author
Ruth J F Loos
Stéphanie Ruchat
Tuomo Rankinen
Angelo Tremblay
Louis Pérusse
Claude Bouchard
Author Affiliation
Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA 70808, USA.
Source
Am J Clin Nutr. 2007 Jan;85(1):26-34
Date
Jan-2007
Language
English
Publication Type
Article
Keywords
Adiponectin - genetics - metabolism
Adipose Tissue - metabolism
Adult
Basal Metabolism - genetics - physiology
Body Composition - genetics
Body Fat Distribution
Body mass index
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation
Humans
Longitudinal Studies
Male
Middle Aged
Obesity - genetics - metabolism
Oxygen Consumption - genetics - physiology
Phenotype
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Quebec
Receptors, Adiponectin
Receptors, Cell Surface - genetics - metabolism
Abstract
Despite adiponectin's presumed role in fatty acid oxidation and energy homeostasis, little is known about the effect of gene variants on substrate oxidation, energy expenditure, and adiposity-related phenotypes.
We examined the effects of genetic variation in adiponectin (ADIPOQ) and adiponectin receptors 1 and 2 (ADIPOR1 and ADIPOR2) on resting metabolic rate, respiratory quotient (RQ), and adiposity-related phenotypes.
We studied the associations of ADIPOQ, ADIPOR1, and ADIPOR2 polymorphisms with resting metabolic rate, RQ, and body mass index, percentage body fat, sum of 6 skinfold thicknesses, waist circumference, and total, subcutaneous, and visceral fat in 759 participants in the Québec Family Study.
The ADIPOQ 45T-->G single-nucleotide polymorphism (SNP) was significantly (P = 0.0002 to 0.04) associated with overall adiposity and abdominal adiposity; the rare homozygotes (G/G) had a leaner phenotype than did the carriers of the common allele. One SNP each in the putative promoter of ADIPOR1 (ie, -3882T-->C) and ADIPOR2 (ie, IVS1 -1352G-->A) was associated with RQ (P = 0.03 and 0.04, respectively), and the association was even stronger in nonobese persons (P = 0.02 and 0.003). Carriers of the common alleles (ADIPOR1 T and ADIPOR2 G alleles) had a lower RQ than did the rare homozygotes. A significant genotype-by-genotype interaction (P = 0.0002 to 0.02) was found between SNPs in the promoters of ADIPOQ (-3971A-->G) and ADIPOR1 (-3882T-->C). Subjects carrying the minor ADIPOQ allele (G allele) who were rare homozygotes (C/C) for the ADIPOR1 SNP had a higher RQ (P = 0.003) and greater overall (P G variant contributes to overall fatness and abdominal obesity are confirmed. Moreover, variants in the promoter region of both ADIPOR genes contribute to substrate oxidation.
Notes
Comment In: Am J Clin Nutr. 2007 Jan;85(1):1-217209169
PubMed ID
17209173 View in PubMed
Less detail

Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population.

https://arctichealth.org/en/permalink/ahliterature126460
Source
Neurosci Lett. 2012 Apr 4;513(2):233-7
Publication Type
Article
Date
Apr-4-2012
Author
Kai Kaarniranta
Jussi Paananen
Tanja Nevalainen
Iiris Sorri
Sanna Seitsonen
Ilkka Immonen
Antero Salminen
Leena Pulkkinen
Matti Uusitupa
Author Affiliation
Department of Ophthalmology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland; Department of Ophthalmology, Kuopio University Hospital, Kuopio, Finland.
Source
Neurosci Lett. 2012 Apr 4;513(2):233-7
Date
Apr-4-2012
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Alleles
European Continental Ancestry Group - genetics
Female
Finland
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Macular Degeneration - genetics
Male
Polymorphism, Single Nucleotide
Receptors, Adiponectin - genetics
Abstract
Adiponectin is an adipocyte-expressed protein that regulates the glucose, lipid, and energy metabolism via adiponectin receptors 1 and 2. Obesity is a known risk factor for age-related macular degeneration (AMD). We, therefore, examined associations of single nucleotide polymorphisms in Adiponectin (ADIPOQ) and Adiponectin receptors 1 and 2 (ADIPOR1 and ADIPOR2) genes with the prevalence of advanced AMD in Finnish population. Thirty-seven markers for ADIPOQ, ADIPOR1 and ADIPOR2 were genotyped in a sample collection of 91 men and 177 women having exudative AMD and 18 men and 26 women having severe atrophic AMD. Patients were diagnosed by fundus photographs and fluorescein angiography. The control group (no signs of AMD in fundus photographs) consisted of 55 men and 111 women. Inclusion criteria age was over 65 years old without diabetes diagnosis. Out of the tested SNPs, rs10753929 located in intron of ADIPOR1 gene was significantly associated (p=0.0471) with AMD status when using a permutation procedure that controlled for the number of tested genotypes and genetic models. Odds ratio (OR) for the association was 1.699 (95% CI 1.192-2.423). The SNP consists of C/T alleles and the risk allele T had a minor allele frequency (MAF) of 20.4%. Distribution of proportion of cases/controls between alleles revealed an additive genetic model. Our findings reveal that rs10753929 ADIPOR1 variant is a novel candidate for AMD genetic risk factor in Finnish population.
PubMed ID
22387454 View in PubMed
Less detail

Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas.

https://arctichealth.org/en/permalink/ahliterature128155
Source
Hum Mol Genet. 2012 Apr 15;21(8):1907-17
Publication Type
Article
Date
Apr-15-2012
Author
Laura Fejerman
Gary K Chen
Celeste Eng
Scott Huntsman
Donglei Hu
Amy Williams
Bogdan Pasaniuc
Esther M John
Marc Via
Christopher Gignoux
Sue Ingles
Kristine R Monroe
Laurence N Kolonel
Gabriela Torres-Mejía
Eliseo J Pérez-Stable
Esteban González Burchard
Brian E Henderson
Christopher A Haiman
Elad Ziv
Author Affiliation
Department of Medicine, Division of General Internal Medicine, Institute for Human Genetics and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA 94158, USA.
Source
Hum Mol Genet. 2012 Apr 15;21(8):1907-17
Date
Apr-15-2012
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - classification - genetics
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 6 - genetics
Estrogen Receptor alpha - genetics
European Continental Ancestry Group - genetics
Female
Gene Frequency
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Hispanic Americans - genetics
Humans
Microfilament Proteins - genetics
Polymorphism, Single Nucleotide
Risk factors
Abstract
Among US Latinas and Mexican women, those with higher European ancestry have increased risk of breast cancer. We combined an admixture mapping and genome-wide association mapping approach to search for genomic regions that may explain this observation. Latina women with breast cancer (n= 1497) and Latina controls (n= 1272) were genotyped using Affymetrix and Illumina arrays. We inferred locus-specific genetic ancestry and compared the ancestry between cases and controls. We also performed single nucleotide polymorphism (SNP) association analyses in regions of interest. Correction for multiple-hypothesis testing was conducted using permutations (P(corrected)). We identified one region where genetic ancestry was significantly associated with breast cancer risk: 6q25 [odds ratio (OR) per Indigenous American chromosome 0.75, 95% confidence interval (CI): 0.65-0.85, P= 1.1 × 10(-5), P(corrected)= 0.02]. A second region on 11p15 showed a trend towards association (OR per Indigenous American chromosome 0.77, 95% CI: 0.68-0.87, P= 4.3 × 10(-5), P(corrected)= 0.08). In both regions, breast cancer risk decreased with higher Indigenous American ancestry in concordance with observations made on global ancestry. The peak of the 6q25 signal includes the estrogen receptor 1 (ESR1) gene and 5' region, a locus previously implicated in breast cancer. Genome-wide association analysis found that a multi-SNP model explained the admixture signal in both regions. Our results confirm that the association between genetic ancestry and breast cancer risk in US Latinas is partly due to genetic differences between populations of European and Indigenous Americans origin. Fine-mapping within the 6q25 and possibly the 11p15 loci will lead to the discovery of the biologically functional variant/s behind this association.
Notes
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PubMed ID
22228098 View in PubMed
Less detail

Age-dependent variation of genotypes in MHC II transactivator gene (CIITA) in controls and association to type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature119979
Source
Genes Immun. 2012 Dec;13(8):632-40
Publication Type
Article
Date
Dec-2012
Author
A. Gyllenberg
S. Asad
F. Piehl
M. Swanberg
L. Padyukov
B. Van Yserloo
E A Rutledge
B. McNeney
J. Graham
M. Orho-Melander
E. Lindholm
C. Graff
C. Forsell
K. Akesson
M. Landin-Olsson
A. Carlsson
G. Forsander
S A Ivarsson
H. Larsson
B. Lindblad
J. Ludvigsson
C. Marcus
A. Lernmark
L. Alfredsson
T. Olsson
I. Kockum
Author Affiliation
Neuroimmunology Unit, Department of Clinical Neuroscience, Centre for Molecular Medicine, L8:05, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. alexandra.gyllenberg@ki.se
Source
Genes Immun. 2012 Dec;13(8):632-40
Date
Dec-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Alleles
Case-Control Studies
Child
Child, Preschool
Diabetes Mellitus, Type 1 - genetics
European Continental Ancestry Group
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Infant
Infant, Newborn
Lectins, C-Type - genetics
Linkage Disequilibrium
Male
Monosaccharide Transport Proteins - genetics
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide
Sweden
Trans-Activators - genetics
Abstract
The major histocompatibility complex class II transactivator (CIITA) gene (16p13) has been reported to associate with susceptibility to multiple sclerosis, rheumatoid arthritis and myocardial infarction, recently also to celiac disease at genome-wide level. However, attempts to replicate association have been inconclusive. Previously, we have observed linkage to the CIITA region in Scandinavian type 1 diabetes (T1D) families. Here we analyze five Swedish T1D cohorts and a combined control material from previous studies of CIITA. We investigate how the genotype distribution within the CIITA gene varies depending on age, and the association to T1D. Unexpectedly, we find a significant difference in the genotype distribution for markers in CIITA (rs11074932, P=4 × 10(-5) and rs3087456, P=0.05) with respect to age, in the collected control material. This observation is replicated in an independent cohort material of about 2000 individuals (P=0.006, P=0.007). We also detect association to T1D for both markers, rs11074932 (P=0.004) and rs3087456 (P=0.001), after adjusting for age at sampling. The association remains independent of the adjacent T1D risk gene CLEC16A. Our results indicate an age-dependent variation in CIITA allele frequencies, a finding of relevance for the contrasting outcomes of previously published association studies.
PubMed ID
23052709 View in PubMed
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Allele rs2010963 C of the VEGFA gene is associated with the decreased risk of primary varicose veins in ethnic Russians.

https://arctichealth.org/en/permalink/ahliterature294742
Source
Phlebology. 2018 Feb; 33(1):27-35
Publication Type
Journal Article
Date
Feb-2018
Author
Alexandra S Shadrina
Mariya A Smetanina
Ekaterina A Sokolova
Darya V Shamovskaya
Kseniya S Sevost'ianova
Andrey I Shevela
Evgenii Y Soldatsky
Evgenii I Seliverstov
Marina Y Demekhova
Oleg A Shonov
Evgeny A Ilyukhin
Elena N Voronina
Ilya V Pikalov
Igor A Zolotukhin
Alexander I Kirienko
Maxim L Filipenko
Author Affiliation
1 Institute of Chemical Biology and Fundamental Medicine, Russia.
Source
Phlebology. 2018 Feb; 33(1):27-35
Date
Feb-2018
Language
English
Publication Type
Journal Article
Keywords
5' Untranslated Regions
Adolescent
Adult
Aged
Case-Control Studies
Chi-Square Distribution
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
Humans
Linkage Disequilibrium
Logistic Models
Male
Middle Aged
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Protective factors
Risk factors
Russia - epidemiology
Varicose Veins - diagnosis - ethnology - genetics
Vascular Endothelial Growth Factor A - genetics
Vascular Endothelial Growth Factor Receptor-2 - genetics
Young Adult
Abstract
Objective To study the association of polymorphisms rs699947, rs2010963, rs3025039 in the VEGFA gene region and rs1870377, rs2305949, rs2071559 in the VEGFR2 gene region with the risk of primary varicose veins in ethnic Russians. Methods Genotypes were determined by real-time PCR allelic discrimination. The case group consisted of 448 patients with primary varicose veins and the control group comprised 609 individuals without a history of chronic venous disease. Association was studied by logistic regression analysis. Results Allele rs2010963 C was associated with the decreased risk of varicose veins (additive model of inheritance: odds ratio?=?0.73, 95% confidence interval?=?0.59-0.91, P?=?0.004). Conclusions Our results provide evidence that polymorphism rs2010963 located in the 5' untranslated region of the VEGFA gene can influence genetic susceptibility to primary varicose veins in Russians. Otherwise, it can be in linkage disequilibrium with another functional single nucleotide polymorphism that can alter the level of vascular endothelial growth factor A protein.
PubMed ID
27932624 View in PubMed
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