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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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Association between interleukin 1 gene cluster polymorphisms and bilateral distal interphalangeal osteoarthritis.

https://arctichealth.org/en/permalink/ahliterature149097
Source
J Rheumatol. 2009 Sep;36(9):1977-86
Publication Type
Article
Date
Sep-2009
Author
Svetlana Solovieva
Olli-Pekka Kämäräinen
Ari Hirvonen
Satu Hämäläinen
Mari Laitala
Tapio Vehmas
Katariina Luoma
Annu Näkki
Hilkka Riihimäki
Leena Ala-Kokko
Minna Männikkö
Päivi Leino-Arjas
Author Affiliation
Centre of Expertise Health and Work Ability, Finnish Institute of Occupational Health, Helsinki, Finland. Svetlana.Solovieva@ttl.fi
Source
J Rheumatol. 2009 Sep;36(9):1977-86
Date
Sep-2009
Language
English
Publication Type
Article
Keywords
Biomechanical Phenomena
Dentistry
Female
Finger Joint - physiopathology - radiography
Finland
Gene Frequency - genetics
Genetic Predisposition to Disease - genetics
Genotype
Humans
Interleukin-1 - genetics
Linkage Disequilibrium - genetics
Logistic Models
Middle Aged
Multigene Family - genetics
Occupational Diseases - genetics - physiopathology
Osteoarthritis - epidemiology - genetics - physiopathology
Polymorphism, Single Nucleotide - genetics
Receptors, Interleukin-1 - genetics
Risk factors
Teaching
Weight-Bearing - physiology
Abstract
To examine the association of the interleukin 1 gene (IL1) cluster polymorphisms and their haplotypes with bilateral distal interphalangeal joint osteoarthritis (DIP OA).
Radiographs of both hands of 295 dentists and 248 teachers were examined and classified for the presence of OA using reference images. Bilateral DIP OA was defined by the presence of radiographic findings of grade 2 or more in at least 1 symmetrical pair of the DIP joints. We genotyped 10 single-nucleotide polymorphisms (SNP) in the IL1R1, IL1RL2, IL1A, IL1B, and IL1RN genes using polymerase chain reaction-based methods. Haplotypes were statistically reconstructed using the PHASE program. The association between the genotypes/diplotypes and bilateral DIP OA was examined with logistic regression analysis.
Two IL1B SNP (rs1143634 and rs1143633) were associated with bilateral DIP OA. The carriers of the IL1B rs1143634 minor allele had an increased OA risk [odds ratio (OR) 1.6; 95% confidence interval (CI) 1.08-2.26] compared to the noncarriers. The association was stronger in the dentists. The distribution of the IL1B rs1143633 genotype fit a recessive mode of inheritance (OR 3.03, 95% CI 1.35-6.83, p = 0.006). Two IL1B-IL1RN extended haplotype alleles (211-1 and 121-1) were associated with bilateral DIP OA. An interaction between the IL1B rs1143634 and the IL1R1-IL1RL2 and IL1B-IL1RN extended haplotypes and occupation (increased risk of OA among dentists only) was observed.
Our results provide further evidence for the role of IL1 gene cluster polymorphisms in the etiology of OA and suggest that some of these may predispose DIP joints to the effects of mechanical overload.
Notes
Comment In: J Rheumatol. 2009 Sep;36(9):1864-519738208
PubMed ID
19684156 View in PubMed
Less detail

Association between the surfactant protein D (SFTPD) gene and subclinical carotid artery atherosclerosis.

https://arctichealth.org/en/permalink/ahliterature278404
Source
Atherosclerosis. 2016 Mar;246:7-12
Publication Type
Article
Date
Mar-2016
Author
Grith L Sorensen
Else Marie Bladbjerg
Rudi Steffensen
Qihua Tan
Jens Madsen
Thomas Drivsholm
Uffe Holmskov
Source
Atherosclerosis. 2016 Mar;246:7-12
Date
Mar-2016
Language
English
Publication Type
Article
Keywords
Asymptomatic Diseases
Carotid Arteries - diagnostic imaging
Carotid Artery Diseases - blood - diagnostic imaging - genetics
Carotid Intima-Media Thickness
Chi-Square Distribution
Denmark
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Linear Models
Logistic Models
Male
Middle Aged
Multivariate Analysis
Phenotype
Plaque, Atherosclerotic
Polymorphism, Single Nucleotide
Pulmonary Surfactant-Associated Protein D - blood - genetics
Risk assessment
Risk factors
Smoking - adverse effects
Abstract
Surfactant protein D (SP-D) is a defense collectin with inflammation-modulating properties. SP-D deficiency inhibits atherosclerosis in vivo, and the circulatory SP-D levels have been previously associated with cardiovascular disease mortality. We hypothesized that plasma SP-D (pSP-D) and SP-D gene (SFTPD) single nucleotide polymorphisms (SNPs) are risk factors for atherosclerosis.
We evaluated individuals who were all 60 years old and participated in The Glostrup Population Study. Subclinical atherosclerosis was diagnosed based on the ultrasonographic measurement of intima-media thickness (IMT) and protruding plaques in the right carotid artery. Associations between cardiovascular traits and the levels of pSP-D (n = 687) or two coding SFTPD SNPs rs3088308 and rs721917 (n = 396) were investigated using multiple linear regressions and logistic regressions.
There was no significant association between pSP-D and the presence of plaques or IMT. The SFTPD SNP rs3088308 was nominally associated with the presence of plaques, and rs721917 was nominally associated with IMT. The directions of effects of associations were markedly dependent on current smoking status.
The results do not support that pSP-D levels influence the development of subclinical atherosclerosis. However, the SFTPD SNP data support previous observations from animal studies that SP-D plays a role in the etiology of atherosclerotic disease development. The nominal significant effects are likely to be mediated by structural variant SP-D modulation of effects of tobacco smoking and are independent of pSP-D levels. The data warrant confirmation in larger cohorts.
PubMed ID
26748346 View in PubMed
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Association of environmental and genetic factors and gene-environment interactions with risk of developing rheumatoid arthritis.

https://arctichealth.org/en/permalink/ahliterature115564
Source
Arthritis Care Res (Hoboken). 2013 Jul;65(7):1147-56
Publication Type
Article
Date
Jul-2013
Author
Elizabeth W Karlson
Bo Ding
Brendan T Keenan
Katherine Liao
Karen H Costenbader
Lars Klareskog
Lars Alfredsson
Lori B Chibnik
Author Affiliation
Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. ekarlson@partners.org
Source
Arthritis Care Res (Hoboken). 2013 Jul;65(7):1147-56
Date
Jul-2013
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Aged
Alcohol Drinking
Area Under Curve
Arthritis, Rheumatoid - blood - diagnosis - genetics - immunology
Autoantibodies - blood
Case-Control Studies
Chi-Square Distribution
Educational Status
Female
Gene-Environment Interaction
Genetic Predisposition to Disease
HLA Antigens - genetics - immunology
Humans
Logistic Models
Male
Middle Aged
Odds Ratio
Parity
Peptides, Cyclic - immunology
Polymorphism, Single Nucleotide
Pregnancy
Prospective Studies
ROC Curve
Risk assessment
Risk factors
Smoking - adverse effects
Sweden
United States
Young Adult
Abstract
We developed rheumatoid arthritis (RA) risk models based on validated environmental factors (E), genetic risk scores (GRS), and gene-environment interactions (GEI) to identify factors that can improve accuracy and reclassification.
Models including E, GRS, and GEI were developed among 317 white seropositive RA cases and 551 controls from the Nurses' Health Studies (NHS) and validated in 987 white anti-citrullinated protein antibody-positive cases and 958 controls from the Swedish Epidemiologic Investigation of Rheumatoid Arthritis (EIRA), stratified by sex. Primary analyses included age, smoking, alcohol, parity, weighted GRS using 31 non-HLA alleles and 8 HLA-DRB1 alleles, and the HLA × smoking interaction. Expanded models included reproductive, geographic, and occupational factors and additional GEI terms. Hierarchical models were compared for discriminative accuracy using the area under the receiver operating characteristic curve (AUC) and reclassification using the integrated discrimination improvement (IDI) and the continuous net reclassification improvement.
The mean age at RA diagnosis was 56 years in the NHS and 51 years in the EIRA. Primary models produced AUCs of 0.716 in the NHS, 0.716 in women in the EIRA, and 0.756 in men in the EIRA. Expanded models produced improvements in discrimination with AUCs of 0.738 in the NHS, 0.724 in women in the EIRA, and 0.769 in men in the EIRA. Models including genetic factors (G) or G + GEI improved reclassification over E models; the full E + G + GEI model provided the optimal predictive ability by IDI analyses.
We have developed comprehensive RA risk models incorporating E, G, and GEI that have improved the discriminative accuracy for RA. Further work developing and assessing highly specific prediction models in prospective cohorts is still needed to inform primary RA prevention trials.
Notes
Cites: Ann Rheum Dis. 2010 Mar;69(3):503-919825849
Cites: Ann Rheum Dis. 2010 Jun;69(6):1077-8520233754
Cites: Nat Genet. 2010 Jun;42(6):508-1420453842
Cites: Rheum Dis Clin North Am. 2010 May;36(2):213-4120510231
Cites: Environ Health Perspect. 2010 Jul;118(7):957-6120338859
Cites: Arthritis Rheum. 2010 Nov;62(11):3196-21020597111
Cites: Diabetes Care. 2011 Jan;34(1):121-520889853
Cites: Stat Med. 2011 Jan 15;30(1):11-2121204120
Cites: Genet Med. 2011 May;13(5):453-621502867
Cites: Curr Diab Rep. 2011 Dec;11(6):511-821947855
Cites: Ann Rheum Dis. 2012 Mar;71(3):378-8121972241
Cites: Rheumatology (Oxford). 2012 Mar;51(3):499-51222120459
Cites: PLoS One. 2012;7(5):e3529622662108
Cites: Am J Hum Genet. 2012 Jun 8;90(6):962-7222633398
Cites: Epidemiology. 1994 Sep;5(5):525-327986867
Cites: Ann Epidemiol. 1995 Jul;5(4):297-3028520712
Cites: Am J Epidemiol. 1996 Jul 1;144(1):1-148659479
Cites: Ann Rheum Dis. 1996 Feb;55(2):94-88712873
Cites: Arthritis Rheum. 1997 Nov;40(11):1955-619365083
Cites: JAMA. 1998 Feb 11;279(6):445-99466637
Cites: Arthritis Rheum. 1999 Mar;42(3):415-2010088762
Cites: Arthritis Rheum. 2004 Nov;50(11):3458-6715529351
Cites: Ann Rheum Dis. 2005 Apr;64(4):582-615319232
Cites: Ann Rheum Dis. 2005 Nov;64(11):1588-9415843455
Cites: Arthritis Res Ther. 2005;7(6):R1296-30316277683
Cites: Arthritis Rheum. 2006 Jan;54(1):38-4616385494
Cites: PLoS Med. 2006 Feb;3(2):e114; author reply e12716492078
Cites: Am J Med. 2006 Jun;119(6):503.e1-916750964
Cites: J Rheumatol. 2006 Jun;33(6):1069-7416622905
Cites: Curr Opin Rheumatol. 2007 Jan;19(1):49-5417143096
Cites: Arthritis Res Ther. 2006;8(4):R13316872514
Cites: JAMA. 2007 Feb 14;297(6):611-917299196
Cites: Circulation. 2007 Feb 20;115(7):928-3517309939
Cites: Arthritis Rheum. 2007 May;56(5):1424-3217469099
Cites: N Engl J Med. 2007 Sep 6;357(10):977-8617804842
Cites: N Engl J Med. 2007 Sep 20;357(12):1199-20917804836
Cites: Nat Genet. 2007 Dec;39(12):1477-8217982456
Cites: Environ Health Perspect. 2009 Jul;117(7):1065-919654914
Cites: Nat Genet. 2009 Dec;41(12):1313-819898481
Cites: Ann Rheum Dis. 2010 Jan;69(1):54-6019151010
Cites: Clin Chem. 2008 Jan;54(1):17-2318024533
Cites: Stat Med. 2008 Jan 30;27(2):157-72; discussion 207-1217569110
Cites: Arthritis Rheum. 2008 Mar 15;59(3):302-1018311749
Cites: PLoS Genet. 2008 Apr;4(4):e100002418437207
Cites: Arch Intern Med. 2008 Aug 11;168(15):1664-7018695080
Cites: Nat Genet. 2008 Oct;40(10):1216-2318794853
Cites: Diabetes Care. 2008 Oct;31(10):2056-6118689695
Cites: N Engl J Med. 2008 Nov 20;359(21):2208-1919020323
Cites: N Engl J Med. 2008 Nov 20;359(21):2220-3219020324
Cites: Nat Genet. 2009 Jan;41(1):47-5519060911
Cites: Ann Rheum Dis. 2009 Feb;68(2):222-718535114
Cites: Ann Intern Med. 2009 Jan 20;150(2):65-7219153409
Cites: J Rheumatol. 2002 Feb;29(2):246-5411838841
Cites: Am J Med. 2002 Apr 15;112(6):465-7111959057
Cites: J Gend Specif Med. 2002 Mar-Apr;5(2):27-3711974672
Cites: Ann Rheum Dis. 2003 Sep;62(9):835-4112922955
Cites: Arthritis Rheum. 2003 Oct;48(10):2741-914558078
Cites: J Rheumatol. 2004 Feb;31(2):207-1314760786
Cites: Arthritis Rheum. 2004 Feb;50(2):380-614872479
Cites: Am J Epidemiol. 2004 May 1;159(9):882-9015105181
Cites: Am J Hum Genet. 2004 Aug;75(2):330-715208781
Cites: Arthritis Rheum. 2004 Oct;50(10):3085-9215476204
Cites: Scand J Rheumatol. 2004;33(5):300-615513677
Cites: Am J Epidemiol. 1982 Jan;115(1):92-1067055134
Cites: Thorax. 1986 Aug;41(8):596-6013787543
Cites: Br J Rheumatol. 1989;28 Suppl 1:13-7; discussion 18-232819343
Cites: N Engl J Med. 1990 Jun 7;322(23):1635-412288563
Cites: Arthritis Rheum. 1990 Jun;33(6):782-92363734
Cites: J Clin Epidemiol. 1990;43(11):1221-302147033
Cites: Ann Rheum Dis. 1990 Dec;49(12):980-22270970
Cites: Arthritis Rheum. 2009 Mar;60(3):641-5219248103
Cites: Ann Rheum Dis. 2009 Apr;68(4):526-3018477739
Cites: J Rheumatol. 2009 Apr;36(4):706-1119228654
Cites: Ann Rheum Dis. 2010 Jan;69(1):70-8119174392
Cites: BMJ. 2010;340:b483820075150
Cites: Arthritis Rheum. 2010 Feb;62(2):383-9120112361
PubMed ID
23495093 View in PubMed
Less detail

Association of interleukin 8 with myocardial infarction: results from the Stockholm Heart Epidemiology Program.

https://arctichealth.org/en/permalink/ahliterature258580
Source
Int J Cardiol. 2014 Mar 1;172(1):173-8
Publication Type
Article
Date
Mar-1-2014
Author
Ilais Moreno Velásquez
Paolo Frumento
Katarina Johansson
Anita Berglund
Ulf de Faire
Karin Leander
Bruna Gigante
Source
Int J Cardiol. 2014 Mar 1;172(1):173-8
Date
Mar-1-2014
Language
English
Publication Type
Article
Keywords
Aged
Case-Control Studies
Coronary Artery Disease - epidemiology - genetics - metabolism
Female
Genetic Predisposition to Disease - epidemiology - genetics
HapMap Project
Humans
Interleukin-8 - blood - genetics
Logistic Models
Male
Middle Aged
Myocardial Infarction - epidemiology - genetics - metabolism
Odds Ratio
Polymorphism, Single Nucleotide
Receptors, Interleukin-8A - genetics - metabolism
Receptors, Interleukin-8B - genetics - metabolism
Risk factors
Sweden - epidemiology
Abstract
Interleukin 8 (IL8) has been contradictorily associated with the risk of myocardial infarction (MI).
To investigate the association of IL8 serum levels with the risk of MI and the association of the IL8 (IL8) and IL8 receptors (CXCR1 and CXCR2) genetic variants with IL8 levels and MI risk in a large case control study, the Stockholm Heart Epidemiology Program.
IL8 levels (pg/mL) were divided into quartiles and the MI risk was calculated by logistic regression and expressed as odds ratio (OR) and 95% CI. Two IL8 SNPs (rs4073A/T, rs2227306C/T) and three SNPs tagging CXCR1 and CXCR2 (rs4674258C/T, rs1008563C/T, rs6723449T/C) were analyzed for association with IL8 levels and with MI risk. Multivariate adjusted ORs for MI risk by IL8 levels in the highest quartiles indicated reduced point estimates in both women (OR 0.37; 95% CI 0.2-0.8) and men when compared to the lowest quartile. In female cases, IL8 levels decreased progressively in the six months after MI (p=0.03). IL8, CXCR1 and CXCR2 genetic variants were not associated with IL8 levels. In men, the T allele at the IL8 SNP rs4073 was associated with a slight increase in the MI risk under an additive and a recessive model of inheritance.
IL8 serum levels were associated with a reduced occurrence of MI among women, whereas IL8 was associated with a slightly increased risk among men, possibly through different mechanisms. These data suggest that the biological effects of IL8 on MI risk may vary over time and warrant further cohort studies with repetitive IL8 measurements.
PubMed ID
24462138 View in PubMed
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Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study.

https://arctichealth.org/en/permalink/ahliterature82981
Source
Stroke. 2006 Feb;37(2):371-6
Publication Type
Article
Date
Feb-2006
Author
Woo Daniel
Kaushal Ritesh
Kissela Brett
Sekar Padmini
Wolujewicz Michael
Pal Prodipto
Alwell Kathleen
Haverbusch Mary
Ewing Irene
Miller Rosie
Kleindorfer Dawn
Flaherty Matthew
Chakraborty Ranajit
Deka Ranjan
Broderick Joseph
Author Affiliation
Department of Neurology, University of Cincinnati College of Medicine, Cincinnati, OH 45267-0525, USA. Daniel.woo@uc.edu
Source
Stroke. 2006 Feb;37(2):371-6
Date
Feb-2006
Language
English
Publication Type
Article
Keywords
3',5'-Cyclic-Nucleotide Phosphodiesterase - genetics - physiology
African Continental Ancestry Group
Age Factors
Aged
Case-Control Studies
Cerebrovascular Accident - epidemiology - genetics - pathology
Cohort Studies
DNA - chemistry
European Continental Ancestry Group
Genotype
Haplotypes
Humans
Ischemia - epidemiology - genetics - pathology
Ischemic Attack, Transient - genetics
Linkage Disequilibrium
Logistic Models
Middle Aged
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Quality Control
Risk factors
Abstract
BACKGROUND AND PURPOSE: The Phosphodiesterase 4D (PDE4D) gene was reported recently to be associated with ischemic stroke in an Icelandic population. The association was found predominately with large vessel and cardioembolic stroke. However, 2 recent reports were unable to confirm this association, although a trend toward association with cardioembolic stroke was reported. None of the reports included significant proportions of blacks. We tested for genotype and haplotype association of polymorphisms of the PDE4D gene with ischemic stroke in a population-based, biracial, case-control study. METHODS: A total of 357 cases of ischemic stroke and 482 stroke-free controls from the same community were examined. Single nucleotide polymorphisms (SNPs) were chosen based on significant associations reported previously. Linkage disequilibrium (LD), SNP, and haplotype association analysis was performed using PHASE 2.0 and Haploview 3.2. RESULTS: Although several univariate associations were identified, only 1 SNP (rs2910829) was found to be significantly associated with cardioembolic stroke among both whites and blacks. The rs152312 SNP was associated with cardioembolic stroke among whites after multiple comparison corrections. The same SNP was not associated with cardioembolic stroke among blacks. However, significant haplotype association was identified for both whites and blacks for all ischemic stroke, cardioembolic stroke, and stroke of unknown origin. Haplotype association was identified for small vessel stroke among whites. CONCLUSIONS: PDE4D is a risk factor for ischemic stroke and, in particular, for cardioembolic stroke, among whites and blacks. Further study of this gene is warranted.
PubMed ID
16373644 View in PubMed
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Association of rs2200733 at 4q25 with early onset of lone atrial fibrillation in young patients.

https://arctichealth.org/en/permalink/ahliterature132653
Source
Scand Cardiovasc J. 2011 Dec;45(6):324-6
Publication Type
Article
Date
Dec-2011
Author
Kristoffer M A Henningsen
Morten S Olesen
Stig Haunsoe
Jesper H Svendsen
Author Affiliation
Department of Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Denmark. Kristofferh@dadlnet.dk
Source
Scand Cardiovasc J. 2011 Dec;45(6):324-6
Date
Dec-2011
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Atrial Fibrillation - diagnosis - genetics - physiopathology
Case-Control Studies
Chi-Square Distribution
Chromosomes, Human, Pair 4
Denmark - epidemiology
Gene Frequency
Genetic Predisposition to Disease
Humans
Logistic Models
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Risk assessment
Risk factors
Abstract
Genome wide association studies have shown an association between rs2200733 at 4q25 and atrial fibrillation (AF). In this case-control study we investigate the association of rs2200733 and lone AF in young patients.
We included 196 young patients with lone AF and the first episode before the age of 40 years. We analyzed the single nucleotide polymorphism (SNP) rs2200733 for the lone AF patients and compared them to a control group of 176 age matched healthy individuals.
No significant differences, in neither genotype distribution, nor minor allele frequencies were found between the lone AF patients and the healthy controls.
Our results suggest that the rs220733 is not a risk factor for AF in patients with no other cardiovascular disease and with early onset of the arrhythmia.
PubMed ID
21793630 View in PubMed
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Association of SNPs of CD40 gene with multiple sclerosis in Russians.

https://arctichealth.org/en/permalink/ahliterature114495
Source
PLoS One. 2013;8(4):e61032
Publication Type
Article
Date
2013
Author
Ekaterina Alekseevna Sokolova
Nadezhda Alekseevna Malkova
Denis Sergeevich Korobko
Aleksey Sergeevich Rozhdestvenskii
Anastasia Vladimirovna Kakulya
Elena Vladimirovna Khanokh
Roman Andreevich Delov
Fedor Alekseevich Platonov
Tatyana Yegorovna Popova
Elena Gennadievna Aref' eva
Natalia Nikolaevna Zagorskaya
Valentina Mikhailovna Alifirova
Marina Andreevna Titova
Inna Vadimovna Smagina
Svetlana Alksandrovna El' chaninova
Anna Valentinovna Popovtseva
Valery Pavlovich Puzyrev
Olga Georgievna Kulakova
Ekaterina Yur'evna Tsareva
Olga Olegovna Favorova
Sergei Gennadievich Shchur
Natalia Yurievna Lashch
Natalia Fyodorovna Popova
Ekaterina Valerievna Popova
Evgenii Ivanovich Gusev
Aleksey Nikolaevich Boyko
Yurii Sergeevich Aulchenko
Maxim Leonidovich Filipenko
Author Affiliation
Pharmacogenomics Group, Institute of Chemical Biology and Fundamental Medicine, Siberian Division, Russian Academy of Sciences, Novosibirsk, Russia. sokolovaea2608@gmail.ru
Source
PLoS One. 2013;8(4):e61032
Date
2013
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Antigens, CD40 - genetics
Female
Haplotypes - genetics
Humans
Logistic Models
Male
Multiple Sclerosis - genetics
Polymorphism, Single Nucleotide
Russia
Abstract
Multiple sclerosis (MS) is a serious, incurable neurological disease. In 2009, the ANZgene studies detected the suggestive association of located upstream of CD40 gene in chromosome 20q13 (p?=?1.3×10(-7)). Identification of the causal variant(s) in the CD40 locus leads to a better understanding of the mechanism underlying the development of autoimmune pathologies. We determined the genotypes of rs6074022, rs1883832, rs1535045, and rs11086996 in patients with MS (n?=?1684) and in the control group (n?=?879). Two SNPs were significantly associated with MS: rs6074022 (additive model C allele OR?=?1.27, 95% CI?=?[1.12-1.45], p?=?3×10(-4)) and rs1883832 (additive model T allele OR?=?1.20, 95% CI?=?[1.05-1.38], p?=?7×10(-3)). In the meta-analysis of our results and the results of four previous studies, we obtain the association p-value of 2.34×10(-12), which confirmed the association between MS and rs6074022 at a genome-wide significant level. Next, we demonstrated that the model including rs6074022 only sufficiently described the association. From our analysis, we can speculate that the association between rs1883832 and MS was induced by LD, whereas rs6074022 was a marker in stronger LD with the functional variant or was the functional variant itself. Our results indicated that the functional variants were located in the upstream region of the gene CD40 and were in higher LD with rs6074022 than LD with rs1883832.
Notes
Cites: Arthritis Rheum. 2000 Nov;43(11):2571-711083282
Cites: Rheumatology (Oxford). 2012 Jan;51(1):47-5122087016
Cites: J Immunol. 2002 Jan 15;168(2):537-4011777943
Cites: J Clin Invest. 2003 Nov;112(10):1506-2014617752
Cites: Science. 1993 Sep 3;261(5126):1328-307689748
Cites: Proc Natl Acad Sci U S A. 1996 Mar 19;93(6):2499-5048637903
Cites: PLoS One. 2012;7(4):e3533322509407
Cites: PLoS One. 2012;7(5):e3614022570697
Cites: Mol Biol Rep. 2012 Jun;39(6):6915-2222302395
Cites: Mult Scler. 2012 Oct;18(10):1384-9422457343
Cites: Eur J Immunol. 1996 Oct;26(10):2329-348898941
Cites: J Immunol. 1997 Nov 1;159(9):4620-79379064
Cites: Autoimmunity. 2004 Sep-Nov;37(6-7):457-6415621572
Cites: Endocrinology. 2005 Jun;146(6):2684-9115731360
Cites: Diabetes. 2006 Sep;55(9):2437-4516936191
Cites: N Engl J Med. 2007 Aug 30;357(9):851-6217660530
Cites: Nat Genet. 2007 Nov;39(11):1329-3717952073
Cites: Blood. 2008 Apr 15;111(8):4348-5418287517
Cites: Blood. 2008 Sep 1;112(5):1863-7118591382
Cites: PLoS One. 2008;3(10):e349018941528
Cites: Nat Genet. 2008 Dec;40(12):1402-318997785
Cites: Hum Mol Genet. 2009 Feb 15;18(4):767-7819010793
Cites: Nat Genet. 2009 Jul;41(7):776-8219525953
Cites: Nat Genet. 2009 Jul;41(7):824-819525955
Cites: Am J Hum Genet. 2010 Feb 12;86(2):285-9120159113
Cites: Ann Rheum Dis. 2010 May;69(5):813-619435719
Cites: Nat Genet. 2010 Jun;42(6):495-720453840
Cites: PLoS One. 2010;5(7):e1152020634952
Cites: J Neuroimmunol. 2010 Oct 8;227(1-2):162-620598377
Cites: Int J Cancer. 2011 Mar 15;128(6):1481-520473910
Cites: Osteoporos Int. 2011 May;22(5):1451-820577873
Cites: Nature. 2011 Aug 11;476(7359):214-921833088
Cites: PLoS One. 2011;6(8):e2376221912605
Cites: Ann Rheum Dis. 2011 Dec;70(12):2184-9021914625
Cites: Ann Neurol. 2011 Dec;70(6):897-91222190364
Cites: Ann Neurol. 2001 Jul;50(1):121-711456302
PubMed ID
23613777 View in PubMed
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Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder.

https://arctichealth.org/en/permalink/ahliterature159214
Source
Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1488-94
Publication Type
Article
Date
Dec-5-2008
Author
Ake T Lu
Matthew N Ogdie
Marjo-Ritta Järvelin
Irma K Moilanen
Sandra K Loo
James T McCracken
James J McGough
May H Yang
Leena Peltonen
Stanley F Nelson
Rita M Cantor
Susan L Smalley
Author Affiliation
Department of Human Genetics, University of California, Los Angeles, California, USA.
Source
Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1488-94
Date
Dec-5-2008
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Attention Deficit Disorder with Hyperactivity - diagnosis - epidemiology - genetics
Case-Control Studies
Child
Cohort Studies
Comorbidity
Female
Finland - epidemiology
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation
Genotype
Haplotypes
Humans
Linkage Disequilibrium
Logistic Models
Los Angeles - epidemiology
Male
Middle Aged
Parents
Polymorphism, Single Nucleotide
Receptors, Cannabinoid - genetics
Risk factors
Sex Factors
Siblings
Stress Disorders, Post-Traumatic - genetics
Abstract
Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder affecting some 5-10% of children and 4-5% of adults. The cannabinoid receptor gene (CNR1) is a positional candidate gene due to its location near an identified ADHD linkage peak on chromosome 6, its role in stress and dopamine regulation, its association with other psychiatric disorders that co-occur with ADHD, and its function in learning and memory. We tested SNP variants at the CNR1 gene in two independent samples-an unselected adolescent sample from Northern Finland, and a family-based sample of trios (an ADHD child and their parents). In addition to using the trios for association study, the parents (with and without ADHD) were used as an additional case/control sample of adults for association tests. ADHD and its co-morbid psychiatric disorders were examined. A significant association was detected for a SNP haplotype (C-G) with ADHD (P = 0.008). A sex by genotype interaction was observed as well with this haplotype posing a greater risk in males than females. An association of an alternative SNP haplotype in this gene was found for post-traumatic stress disorder (PTSD) (P = 0.04 for C-A, and P = 0.01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders.
Notes
Cites: Biol Psychiatry. 2006 Nov 15;60(10):1062-7016712804
Cites: Pharmacogenomics J. 2005;5(2):135-4115668727
Cites: Eur J Pharmacol. 2007 Jan 26;555(2-3):156-6317116299
Cites: J Neurochem. 2007 Apr;101(2):389-9617250681
Cites: J Am Acad Child Adolesc Psychiatry. 2007 Dec;46(12):1575-8318030079
Cites: Am J Hum Genet. 2000 Feb;66(2):605-1410677320
Cites: J Am Acad Child Adolesc Psychiatry. 2000 Sep;39(9):1135-4310986810
Cites: Genet Epidemiol. 2000;19 Suppl 1:S36-4211055368
Cites: Psychiatr Genet. 2000 Sep;10(3):149-5111204352
Cites: Pediatrics. 2001 Mar;107(3):E4311230624
Cites: Eur J Hum Genet. 2001 Apr;9(4):301-611313775
Cites: Am J Med Genet. 2001 Apr 8;105(3):219-2111353438
Cites: Nature. 2001 May 31;411(6837):599-60311385576
Cites: Nat Genet. 2001 Oct;29(2):223-811586304
Cites: Drug Alcohol Depend. 2002 Feb 1;65(3):221-411841893
Cites: Science. 2002 Jun 21;296(5576):2225-912029063
Cites: Mol Psychiatry. 2002;7(5):515-812082570
Cites: Am J Hum Genet. 2002 Sep;71(3):575-8412181775
Cites: Biol Psychiatry. 2005 Jun 1;57(11):1313-2315950004
Cites: Genet Epidemiol. 2005 Apr;28(3):207-1915637715
Cites: Biol Psychiatry. 2005 Jun 1;57(11):1442-5115950019
Cites: Am J Psychiatry. 2005 Sep;162(9):1614-2016135619
Cites: Am J Psychiatry. 2005 Sep;162(9):1621-716135620
Cites: Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):14-816082698
Cites: Dev Psychopathol. 2005 Summer;17(3):785-80616262992
Cites: J Atten Disord. 2005 Nov;9(2):384-9116371661
Cites: J Atten Disord. 2005 Nov;9(2):392-40116371662
Cites: Mol Psychiatry. 2006 Feb;11(2):196-20516222334
Cites: J Am Acad Child Adolesc Psychiatry. 2006 Mar;45(3):346-5416540820
Cites: Pharmacogenomics J. 2006 Mar-Apr;6(2):126-3016314880
Cites: Am J Psychiatry. 2006 Apr;163(4):716-2316585449
Cites: J Neurosci. 2006 Apr 19;26(16):4415-2516624961
Cites: Biol Psychiatry. 2006 May 15;59(10):888-9716442081
Cites: Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):499-50316741937
Cites: Arch Gen Psychiatry. 2006 Jul;63(7):795-80716818869
Cites: Eur Arch Psychiatry Clin Neurosci. 2006 Oct;256(7):437-4116788767
Cites: Genet Epidemiol. 2002 Aug;23(2):165-8012214309
Cites: Psychiatr Genet. 2002 Dec;12(4):207-1512454525
Cites: Am J Hum Genet. 2003 May;72(5):1251-6012679898
Cites: Mol Psychiatry. 2003 May;8(5):466-712808424
Cites: Curr Drug Targets CNS Neurol Disord. 2003 Dec;2(6):389-40214683467
Cites: Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):126-3014755457
Cites: Am J Med Genet B Neuropsychiatr Genet. 2004 May 15;127B(1):97-10315108190
Cites: Mol Psychiatry. 2004 Jul;9(7):711-714699430
Cites: Am J Hum Genet. 2004 Oct;75(4):661-815297934
Cites: Am J Hum Genet. 2004 Dec;75(6):998-101415497111
Cites: Arch Gen Psychiatry. 1982 Aug;39(8):879-837103676
Cites: Arch Gen Psychiatry. 1995 Jul;52(7):564-737598633
Cites: Am J Psychiatry. 1995 Nov;152(11):1652-87485630
Cites: J Am Acad Child Adolesc Psychiatry. 1997 Jul;36(7):980-89204677
Cites: Biol Psychiatry. 1998 Jul 1;44(1):72-49646887
Cites: Bioinformatics. 2005 Jan 15;21(2):263-515297300
Cites: Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):895-90116917946
PubMed ID
18213623 View in PubMed
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Associations of Breast Cancer Risk Prediction Tools With Tumor Characteristics and Metastasis.

https://arctichealth.org/en/permalink/ahliterature272710
Source
J Clin Oncol. 2016 Jan 20;34(3):251-8
Publication Type
Article
Date
Jan-20-2016
Author
Johanna Holm
Jingmei Li
Hatef Darabi
Martin Eklund
Mikael Eriksson
Keith Humphreys
Per Hall
Kamila Czene
Source
J Clin Oncol. 2016 Jan 20;34(3):251-8
Date
Jan-20-2016
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - diagnosis - epidemiology - genetics - pathology
Cohort Studies
Female
Humans
Life Style
Logistic Models
Mammary Glands, Human - abnormalities
Middle Aged
Neoplasm Metastasis
Polymorphism, Single Nucleotide
Prognosis
Proportional Hazards Models
Risk assessment
Risk factors
Sweden - epidemiology
Abstract
The association between established risk factors for breast cancer and subtypes or prognosis of the disease is not well known. We analyzed whether the Tyrer-Cuzick-predicted 10-year breast cancer risk score (TCRS), mammographic density (MD), and a 77-single nucleotide polymorphism polygenic risk score (PRS) were associated with breast cancer tumor prognosticators and risk of distant metastasis.
We used a case-only design in a population-based cohort of 5,500 Swedish patients with breast cancer. Logistic and multinomial logistic regression of outcomes, estrogen receptor (ER) status, lymph node involvement, tumor size, and grade was performed with TCRS, PRS, and percent MD as exposures. Cox proportional hazard models were used to estimate hazard ratios (HRs) of distant metastasis.
Women at high risk for breast cancer based on PRS and/or TCRS were significantly more likely to be diagnosed with favorable prognosticators, such as ER-positive and low-grade tumors. In contrast, PRS weighted on ER-negative disease was associated with ER-negative tumors. When stratifying by age, the associations of TCRS with favorable prognosticators were restricted to women younger than age 50. Women scoring high in both TCRS and PRS had a lower risk of distant metastasis (HR, 0.69; 95% CI, 0.49 to 0.98). MD was not associated with any of the examined prognosticators.
Women at high risk for breast cancer based on genetic and lifestyle factors were significantly more likely to be diagnosed with breast cancers with a favorable prognosis. Better knowledge of subtype-specific risk factors could be vital for the success of prevention programs aimed at lowering mortality.
PubMed ID
26628467 View in PubMed
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