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The -1C to T polymorphism in the annexin A5 gene is not associated with the risk of acute myocardial infarction or sudden cardiac death in middle-aged Finnish males.

https://arctichealth.org/en/permalink/ahliterature53135
Source
Scand J Clin Lab Invest. 2005;65(2):133-40
Publication Type
Article
Date
2005
Author
K S Kaikkonen
S. Kakko
M L Kortelainen
J M Tapanainen
M J Savolainen
Y. Antero Kesäniemi
H V Huikuri
E R Savolainen
Author Affiliation
Division of Cardiology, Department of Internal Medicine, University of Oulu, Finland.
Source
Scand J Clin Lab Invest. 2005;65(2):133-40
Date
2005
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adult
Aged
Annexin A5 - genetics
Death, Sudden, Cardiac - epidemiology - etiology
Finland - epidemiology
Genetic markers
Genetic Predisposition to Disease
Genetic Screening
Humans
Male
Middle Aged
Myocardial Infarction - epidemiology - genetics
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Risk factors
Abstract
OBJECTIVE: A common polymorphism (-1C to T) in the translation initiation sequence of annexin A5 (ANV) gene has recently been associated with a decreased risk of acute myocardial infarction (AMI). The aim of the present study was to analyze the association between the ANV genepolymorphism and the risk of AMI and ischemic sudden cardiac death (SCD) in middle-aged Finnish males. MATERIAL AND METHODS: A case-control study involving three distinct groups of subjects was carried out: (1) victims of SCD (n=98), (2) survivors of AMI (n=212), and (3) randomly selected control subjects without any history of coronary heart disease (n=243). The ANV polymorphism was genotyped in each study group. RESULTS: Among the control group of healthy Finnish males the prevalence rates of the CC, CT, and TT genotypes were 83.1%, 15.2%, and 1.6%, respectively. Among the survivors of AMI, the prevalence rates of CC, CT, and TT were 79.7%, 20.3%, and 0%, respectively, and among the victims of SCD 83.7%, 16.3%, and 0%, respectively. No significant differences in the genotype or allele distributions were observed between the study groups. CONCLUSION: The -1C to T polymorphism in the ANV gene is not associated with the risk of AMI or SCD in middle-aged Finnish males.
PubMed ID
16025836 View in PubMed
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Annexin A5 Promoter Haplotype M2 Is Not a Risk Factor for Recurrent Pregnancy Loss in Northern Europe.

https://arctichealth.org/en/permalink/ahliterature272024
Source
PLoS One. 2015;10(7):e0131606
Publication Type
Article
Date
2015
Author
Liina Nagirnaja
Diana Nõmmemees
Kristiina Rull
Ole B Christiansen
Henriette S Nielsen
Maris Laan
Source
PLoS One. 2015;10(7):e0131606
Date
2015
Language
English
Publication Type
Article
Keywords
Abortion, Habitual - genetics
Adult
Alleles
Annexin A5 - genetics
Case-Control Studies
Denmark
Estonia
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Haplotypes
Humans
Middle Aged
Phenotype
Placenta - pathology
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Pre-Eclampsia - genetics
Pregnancy
Prevalence
Promoter Regions, Genetic
Retrospective Studies
Risk factors
Young Adult
Abstract
Annexin A5 is an essential component of placental integrity that may potentially mediate susceptibility to phenotypes of compromised pregnancy. A promoter haplotype termed M2 of the coding gene ANXA5 has been implicated in various pregnancy complications such as preeclampsia and recurrent pregnancy loss (RPL), however with inconclusive results.
A retrospective case-control study combining resequencing and restriction fragment length polymorphism (RFLP) analysis was undertaken in 313 women with unexplained RPL and 214 fertile women from Estonia and Denmark to estimate the RPL disease risk of the M2 haplotype in Northern Europe. Comparative prevalence of the studied ANXA5 genetic variants in human populations was estimated based on the 1000 Genomes Project (n = 675, whole-genome sequencing data) and the KORA S3 500K dataset of South German samples (n = 1644, genome-wide genotyping data).
Minor allele frequency of common polymorphisms in ANXA5 promoter was up to two-fold lower among Estonian RPL subjects than fertile controls. The M2 haplotype was not associated with RPL and a trend for decreased prevalence was observed among RPL patients compared to controls both in Estonia (8.1% vs 15.2%, respectively) and Denmark (9.7% vs 12.6%). The high M2 prevalence in fertile controls was consistent with estimations for European and East Asian populations (9.6%-16.0%).
This study cautions to consider the M2 haplotype as a deterministic factor in early pregnancy success because: i) no RPL disease risk was associated with the haplotype in two clinically well-characterized RPL case-control study samples, ii) high prevalence of the haplotype among fertile controls and world-wide populations is inconsistent with the previously proposed severe impact on early pregnancy success, iii) weak impact of M2 haplotype on the production of ANXA5 protein has been established by others.
Notes
Cites: Fertil Steril. 2012 Aug;98(2):383-822624674
Cites: Placenta. 2010 Oct;31(10):937-4020805002
Cites: Am J Hum Genet. 2001 Apr;68(4):978-8911254454
Cites: Fertil Steril. 2001 Oct;76(4):694-911591400
Cites: Dev Biol. 2002 Feb 15;242(2):255-6611820819
Cites: Lancet. 2003 Mar 15;361(9361):901-812648968
Cites: Arch Intern Med. 2004 Mar 8;164(5):558-6315006834
Cites: Eur J Hum Genet. 2004 May;12(5):395-914872201
Cites: Hum Reprod. 2004 May;19(5):1215-2115070884
Cites: Acta Obstet Gynecol Scand. 1990;69(7-8):597-6012094140
Cites: Am J Obstet Gynecol. 1994 Dec;171(6):1566-727802069
Cites: Bioinformatics. 2005 Jan 15;21(2):263-515297300
Cites: Eur J Hum Genet. 2005 Jul;13(7):840-815827565
Cites: Gesundheitswesen. 2005 Aug;67 Suppl 1:S26-3016032514
Cites: Br J Haematol. 2006 Jan;132(2):171-9616398652
Cites: Lancet. 2006 Aug 12;368(9535):601-1116905025
Cites: Hum Mol Genet. 2007 Mar 1;16(5):573-817339269
Cites: Curr Protoc Bioinformatics. 2003 Aug;Chapter 11:Unit11.218428695
Cites: Gynecol Obstet Invest. 2008;66(4):257-6718679035
Cites: J Clin Endocrinol Metab. 2008 Dec;93(12):4697-70618782867
Cites: Thromb Haemost. 2009 Aug;102(2):309-1319652881
Cites: Curr Opin Endocrinol Diabetes Obes. 2009 Dec;16(6):446-5019779333
Cites: Thromb Haemost. 2010 May;103(5):1102-320174767
Cites: Nat Commun. 2011;2:27021468022
Cites: Mol Hum Reprod. 2011 Jun;17(6):379-8521257601
Cites: Mol Hum Reprod. 2011 Jul;17(7):447-5221289001
Cites: Thromb Res. 2012 Jun;129(6):815-722512896
Cites: Mol Hum Reprod. 2012 Aug;18(8):379-9022554618
Cites: Sci Rep. 2012;2:82723145320
Cites: Fertil Steril. 2013 Jun;99(7):1930-6.e623499152
Cites: Fertil Steril. 2013 Oct;100(4):1018-2423850300
Cites: Gene. 2013 Nov 10;530(2):248-5223954867
Cites: Fertil Steril. 2013 Nov;100(5):1321-523899942
Cites: Placenta. 2013 Dec;34(12):1202-1024140079
Cites: Thromb Res. 2014 Mar;133(3):495-50024393658
Cites: Hum Mutat. 2014 Aug;35(8):972-8224827138
Cites: J Thromb Haemost. 2015 Mar;13(3):409-1325495894
Cites: Reprod Biomed Online. 2015 Apr;30(4):434-925682309
Cites: Br J Haematol. 2015 Apr;169(2):301-425382354
Cites: Biochim Biophys Acta. 2015 Sep;1853(9):2033-4425595530
Cites: Biochim Biophys Acta. 2000 Dec 20;1498(2-3):169-7311108960
PubMed ID
26135579 View in PubMed
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Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis.

https://arctichealth.org/en/permalink/ahliterature271203
Source
J Thromb Haemost. 2015 Mar;13(3):409-13
Publication Type
Article
Date
Mar-2015
Author
A E A Dahm
G. Tiscia
A. Holmgren
A F Jacobsen
G. Skretting
E. Grandone
P M Sandset
Source
J Thromb Haemost. 2015 Mar;13(3):409-13
Date
Mar-2015
Language
English
Publication Type
Article
Keywords
Annexin A5 - genetics
Case-Control Studies
Databases, Genetic
European Continental Ancestry Group - genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
Heterozygote
Homozygote
Humans
Logistic Models
Norway
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Pregnancy
Pregnancy Complications, Cardiovascular - diagnosis - ethnology - genetics
Promoter Regions, Genetic
Risk factors
Utah
Venous Thrombosis - diagnosis - ethnology - genetics
Abstract
Annexin A5 is a natural anticoagulant assumed to have thrombomodulary functions as it shields phospholipid layers from coagulation complexes. It was recently shown that the M2 haplotype within the annexin A5 gene (ANXA5) promoter reduces the transcriptional activity of the gene. In a previous report, the M2 haplotype was found to be associated with pregnancy-related venous thrombosis (VT).
To investigate whether the M1 or M2 haplotypes or other genetic variations in ANXA5 are associated with pregnancy-related VT.
We investigated samples from 313 cases and 353 controls included in the VIP study, which is a case-control study of pregnancy-related VT. We analyzed tag single nucleotide polymorphisms (SNPs) selected from the CEU population (Utah Residents with Northern and Western European Ancestry) of HapMap and the M1 and the M2 haplotypes of the promoter. Odds ratios for VT were calculated for each haplotype with the wild type as the reference and for each tag SNP with the most common genotype as reference.
We did not find any association between genetic variants in ANXA5 and the risk of pregnancy related VT, but some of the genetic variants were not in Hardy-Weinberg equilibrium.
Neither the M1/M2 haplotypes nor the tag SNPs in ANXA5 were convincingly associated with pregnancy related VT, but other studies in this field are needed.
PubMed ID
25495894 View in PubMed
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