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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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[Association of polymorphisms and haplotypes in the 5' region of COLIA1 gene with the risk of osteoporotic fractures in Russian women from Volga-Ural region].

https://arctichealth.org/en/permalink/ahliterature156211
Source
Genetika. 2008 Feb;44(2):219-25
Publication Type
Article
Date
Feb-2008
Author
L I Selezneva
R I Khusainova
R Z Nurlygaianov
E A Fazlyeva
K P Usenko
O M Lesniak
E K Khucnutdinova
Source
Genetika. 2008 Feb;44(2):219-25
Date
Feb-2008
Language
Russian
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Aged
Collagen Type I - genetics
Female
Fractures, Bone - genetics
Genetic markers
Haplotypes - genetics
Humans
Middle Aged
Osteoporosis, Postmenopausal - genetics
Polymorphism, Single Nucleotide
Retrospective Studies
Russia
Abstract
The analysis of -1997G/T, -1663indelT, and +1245G/T polymorphic loci of the 5'region of COLIA1 gene in 124 females aged from 50 to 70 years old with low numbers of traumatic fractures as well as 150 healthy individuals from Volga-Ural region has been conducted. The association of -1663indelT and +1245G/T loci with the risk of osteoporotic fractures has been discovered. It has been shown that -1997*G*G/-1663*I*D/+1245*G*T genotype combination and -1997*G/-1663*D/+1245*T haplotype can be considered as markers for fracture development.
PubMed ID
18619040 View in PubMed
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Asymptomatic circulation of HEV71 in Norway.

https://arctichealth.org/en/permalink/ahliterature80717
Source
Virus Res. 2007 Jan;123(1):19-29
Publication Type
Article
Date
Jan-2007
Author
Witsø Elisabet
Palacios Gustavo
Rønningen Kjersti S
Cinek Ondrej
Janowitz Diana
Rewers Marian
Grinde Bjørn
Lipkin W Ian
Author Affiliation
Norwegian Institute of Public Health, Oslo, Norway.
Source
Virus Res. 2007 Jan;123(1):19-29
Date
Jan-2007
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Amino Acid Sequence
Carrier State - epidemiology
Cohort Studies
DNA-Directed RNA Polymerases - genetics
Enterovirus - classification - genetics
Enterovirus Infections - epidemiology
Epidemiology, Molecular
Feces - virology
Female
Humans
Infant
Male
Molecular Sequence Data
Norway - epidemiology
Phylogeny
Prospective Studies
Sequence Alignment
Species Specificity
Viral Proteins - genetics
Abstract
Widespread circulation of human enterovirus 71 was discovered in a prospective study of fecal samples obtained from healthy Norwegian children. Molecular characterization of the virus determined that it belonged to genotype C1. Complete sequencing of this strain, HEV71 804/NO/03, revealed differences in the 5'UTR and polymerase with respect to more pathogenic genotypes that may explain its reduced neurovirulence.
PubMed ID
16965832 View in PubMed
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Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-gene interaction.

https://arctichealth.org/en/permalink/ahliterature187366
Source
Blood. 2003 Apr 15;101(8):3037-41
Publication Type
Article
Date
Apr-15-2003
Author
Christopher Butt
Hong Zheng
Edward Randell
Desmond Robb
Patrick Parfrey
Ya-Gang Xie
Author Affiliation
Discipline of Laboratory Medicine, Memorial University of Newfoundland, St John's, NF, Canada.
Source
Blood. 2003 Apr 15;101(8):3037-41
Date
Apr-15-2003
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Activated Protein C Resistance - complications - genetics
Adult
Age of Onset
Aged
Alleles
Amino Acid Substitution
DNA Mutational Analysis
Epistasis, Genetic
Factor V - genetics
Factor XIII - genetics
Female
Founder Effect
Gene Frequency
Genetic Predisposition to Disease
Genotype
Heterozygote
Humans
Linkage Disequilibrium
Male
Middle Aged
Mutation, Missense
Myocardial Infarction - epidemiology - etiology - genetics
Newfoundland and Labrador - epidemiology
Point Mutation
Prevalence
Prospective Studies
Prothrombin - genetics
Risk factors
Sex Factors
Thrombophilia - complications - genetics
Abstract
Studies associating the prothrombin 20210G>A (FII 20210A), factor V Leiden (FVL), and factor XIII Leu34 (FXIII-A Leu34) alleles with myocardial infarction (MI) have yielded conflicting results. Complicated gene-gene interactions, small sample sizes, and heterogeneous genetic and environmental backgrounds may contribute to opposing findings. Simultaneous analysis of multiple gene variants in a large sample size from a genetically isolated population may overcome these weaknesses. Genotyping was performed in 500 MI patients and 500 control subjects from the genetically isolated Newfoundland population to determine the prevalence of the FII 20210A, FVL, and FXIII-A Leu34 variants and their association with MI. Gene-gene interactions were also analyzed. The prevalence of the FII 20210A allele was higher in MI patients (3.2%) than in control subjects (1.0%; P =.015). The FII 20210A allele was also 5.6-fold higher in MI patients younger than 51 years than in age-matched control subjects (P =.04). FVL showed 3.9-fold higher prevalence in young patients than in patients older than 50 years (P =.004) and 2.7-fold higher than in age-matched control subjects (P =.007). Furthermore, the prevalence of combined carriers of the FXIII-A L34 and FII 20210A alleles was 12-fold higher in MI patients than in control subjects (P =.002) and with 92% penetrance. There was disequilibrium of the FXIII-A Leu34 allele to MI patients carrying the FII 20210A allele as a genetic background. Based on our data, we determined that (1) the FII 20210A allele is a risk factor for MI, possibly important for early onset; (2) FVL may predispose for early-onset MI; (3) the FXIII-A Leu34 allele predisposes for MI in males only; however, (4) interaction between the FII 20210A and FXIII-A Leu34 alleles forms a synergistic coeffect that strongly predisposes for MI, placing combined carriers at high risk for MI.
Notes
Comment In: Blood. 2003 Aug 15;102(4):1558-9; author reply 1559-6012900358
PubMed ID
12480694 View in PubMed
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Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway.

https://arctichealth.org/en/permalink/ahliterature17188
Source
Dis Markers. 2005;21(1):29-36
Publication Type
Article
Date
2005
Author
Petter Frost
Astanand Jugessur
Jaran Apold
Ketil Heimdal
Thomas Aloysius
Aud K Eliassen
Lars Fauske
Guri Matre
Hans Geir Eiken
Author Affiliation
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway. petter.frost@imr.no
Source
Dis Markers. 2005;21(1):29-36
Date
2005
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adult
BRCA1 Protein - genetics
Breast Neoplasms - genetics
Female
Founder Effect
Genes, BRCA1
Genetic Screening
Haplotypes
Humans
Middle Aged
Mutation
Norway
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Abstract
Mutations in the Breast-Cancer-1 (BRCA1) gene are the major cause of familial breast/ovarian cancer. Among familial breast cancer only, 15-20% have been suggested to have a deleterious mutation in BRCA1. A highly sensitive method (REF-SSCP) was applied to screen the open reading frame and the 5'UTRs of BRCA1 for mutations. The patient cohort comprised 61 unrelated moderate to high risk breast cancer patients from Western-Norway. Only one known deleterious BRCA1 mutation (c.816-817delGT) was found in two of the 61 patients (3.3%). Four haplotypes were established based on nine known single nucleotide polymorphisms. Two patients had a novel deletion (c.-33_-29delAAAAA) in the 5'UTR, and a novel amino acid substitution (L523W) was found in one patient. Size variations analysis in the 5'UTR was repeated in a cohort of 159 unrelated familial breast/ovarian cancer patients and 94 healthy blood donors. Two patients were identified with 5'UTR (c.-30 to -60) variations (CAAAA)5 and (CAAAA)7, instead of the (CAAAA)6-repeat. All of the identified 5'UTR size variations were localized between the start codon and the most stable secondary structures previously proposed for the exon 1b transcript. No such alterations were found among the healthy blood donors but association studies of the 5'UTR variations within the respective families were not conclusive.
PubMed ID
15735322 View in PubMed
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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

https://arctichealth.org/en/permalink/ahliterature79813
Source
Eur J Hum Genet. 2007 Feb;15(2):143-9
Publication Type
Article
Date
Feb-2007
Author
Schoumans Jacqueline
Wincent Josephine
Barbaro Michela
Djureinovic Tatjana
Maguire Paula
Forsberg Lena
Staaf Johan
Thuresson Ann Charlotte
Borg Ake
Nordgren Ann
Malm Gunilla
Anderlid Britt Marie
Author Affiliation
Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden. jacqueline.schoumans@ki.se
Source
Eur J Hum Genet. 2007 Feb;15(2):143-9
Date
Feb-2007
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adolescent
Cell Cycle Proteins - genetics
Child
Chromosomal Instability
Chromosomal Proteins, Non-Histone - genetics
Chromosomes, Human, Pair 9 - genetics
Cohort Studies
DNA Mutational Analysis
De Lange Syndrome - genetics
Female
Humans
Male
Mutation
Nucleic Acid Hybridization
Phenotype
Proteins - genetics
Sweden
Abstract
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked SMC1L1 gene. We performed a mutation screening of all NIPBL coding exons by direct sequencing in 11 patients (nine sporadic and two familial cases) diagnosed with CdLS in Sweden and detected mutations in seven of the cases. All were de novo, and six of the mutations have not been previously described. Four patients without identifiable NIPBL mutations were subsequently subjected to multiplex ligation-dependent probe amplification analysis to exclude whole exon deletions/duplications of NIPBL. In addition, mutation analysis of the 5' untranslated region (5' UTR) of NIPBL was performed. Tiling resolution array comparative genomic hybridization analysis was carried out on these four patients to detect cryptic chromosome imbalances and in addition the boys were screened for SMC1L1 mutations. We found a de novo 9p duplication with a size of 0.6 Mb in one of the patients with a CdLS-like phenotype but no mutations were detected in SMC1L1. So far, two genes (NIPBL and SMC1L1) have been identified causing CdLS or CdLS-like phenotypes. However, in a considerable proportion of individuals demonstrating the CdLS phenotype, mutations in any of these two genes are not found and other potential loci harboring additional CdLS-causing genes should be considered.
PubMed ID
17106445 View in PubMed
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Contribution of the -455G/A polymorphism at the beta-fibrinogen gene to erythrocyte aggregation in patients with coronary artery disease.

https://arctichealth.org/en/permalink/ahliterature200024
Source
Thromb Haemost. 1999 Nov;82(5):1406-11
Publication Type
Article
Date
Nov-1999
Author
X. Weng
G. Cloutier
J. Genest
Author Affiliation
Laboratory of Biomedical Engineering, Clinical Research Institute of Montréal, Québec, Canada.
Source
Thromb Haemost. 1999 Nov;82(5):1406-11
Date
Nov-1999
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adult
Comorbidity
Coronary Disease - blood - epidemiology - genetics
Erythrocyte Aggregation
Female
Fibrinogen - genetics
Gene Expression Regulation - genetics
Genetic markers
Genetic Predisposition to Disease
Genotype
Humans
Linkage Disequilibrium
Male
Middle Aged
Point Mutation
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Quebec
Smoking - blood
Abstract
A high level of red blood cell (RBC) aggregation has been consistently found in patients with coronary artery disease (CAD) in case-control studies. Plasma fibrinogen has been shown to promote RBC aggregability. The purpose of this study was to investigate the influence of the genetic variability of the beta-fibrinogen gene on RBC aggregation in patients with CAD.
The genotype of the beta-fibrinogen gene locus was determined by polymerase chain reaction using the restriction enzyme HaeIII for a G to A substitution at position -455 upstream from the transcriptional start site in 135 French Canadians with premature CAD (age: 51+/-7 years). Indices measuring the RBC aggregation kinetics (S10) and shear resistance of the aggregates (gammaS) were obtained by laser reflectometry. Patients were separated into groups by using the medians of S10 and gammaS. Using chi2 analyses, the distribution of the -455GG, -455GA, and -455AA genotypes in the groups with high levels of S10 (0.43, 0.49, and 0.08) and gammaS (0.45, 0.49, and 0.06) were found to be significantly distinct from those in the groups with low levels of S10 (0.67, 0.27, and 0.06; p
PubMed ID
10595628 View in PubMed
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Epidemiology of enterovirus types causing neurological disease in Austria 1999-2007: detection of clusters of echovirus 30 and enterovirus 71 and analysis of prevalent genotypes.

https://arctichealth.org/en/permalink/ahliterature90643
Source
J Med Virol. 2009 Feb;81(2):317-24
Publication Type
Article
Date
Feb-2009
Author
Ortner Birgit
Huang Chiao-Wei
Schmid Daniela
Mutz Ingomar
Wewalka Günther
Allerberger Franz
Yang Jyh-Yuan
Huemer Hartwig P
Author Affiliation
Institute for Medical Microbiology, Austrian Agency for Health & Food Safety, Vienna, Austria.
Source
J Med Virol. 2009 Feb;81(2):317-24
Date
Feb-2009
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adolescent
Animals
Austria - epidemiology
Cell Line
Cell Line, Tumor
Cercopithecus aethiops
Child
Child, Preschool
Enterovirus A, Human - genetics - isolation & purification - pathogenicity - physiology
Enterovirus B, Human - genetics - isolation & purification - pathogenicity - physiology
Enterovirus Infections - epidemiology - virology
Female
Genotype
Humans
Infant
Male
Mice
Nervous System Diseases - epidemiology - virology
Vero Cells
Abstract
Between 1999 and 2007 1,388 stool specimens from patients with acute flaccid paralysis or aseptic meningitis were submitted to the Austrian reference laboratory for poliomyelitis. Samples (201) yielded non-poliovirus enterovirus in culture. One hundred eighty-one viruses were available for typing and 78 isolates which remained serologically untyped were further analyzed by CODEHOP-PCR and sequencing of the VP1 gene and the 5'-untranslated region (5'-UTR). Typing revealed an Echovirus 30 outbreak in northwestern Austria in 2000, which was in accordance with the situation in Europe, and no dramatic seasonal changes of Coxsackie viruses were observed. In 2002/2003 a small outbreak of enterovirus 71 (EV71), affected 12 patients in the province of Styria. This virus was identified as genotype C1 and appeared to be genetically distinct from the isolates observed in 2001/2002 in Vienna. In 2004 two unrelated cases occurred in Lower Austria, which were identified as genotype C4, which has been described associated with high mortality most recently in China. In contrast to the situation in Asia the detected EV71 cases were not associated with hand-foot-mouth disease, but with serous meningitis only. This was surprising as a recent publication suggested a reduced neurovirulence of C1 genotype in children in Norway, presumably due to alterations in 5'-UTR and polymerase gene. However, comparing the 5'-UTR of the Austrian isolates and established virulent reference strains to the Norwegian isolate and an attenuated EV71 laboratory strain we did not find an indication that the genotype C1 possesses a RNA structure in its 5'-UTR leading to reduced neurovirulence.
PubMed ID
19107980 View in PubMed
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Evidence that peroxisome proliferator-activated receptor delta influences cholesterol metabolism in men.

https://arctichealth.org/en/permalink/ahliterature186424
Source
Arterioscler Thromb Vasc Biol. 2003 Apr 1;23(4):637-43
Publication Type
Article
Date
Apr-1-2003
Author
Josefin Skogsberg
Katja Kannisto
Tobias N Cassel
Anders Hamsten
Per Eriksson
Ewa Ehrenborg
Author Affiliation
Atherosclerosis Research Unit, King Gustaf V Research Institute, Karolinska Hospital, SE-171 76 Stockholm, Sweden.
Source
Arterioscler Thromb Vasc Biol. 2003 Apr 1;23(4):637-43
Date
Apr-1-2003
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adult
Alleles
Cholesterol - metabolism
Cholesterol, LDL - blood
Chromosomes, Human, Pair 6 - genetics
Cloning, Molecular
Cohort Studies
Exons - genetics
Gene Frequency
Genotype
Humans
Male
Middle Aged
Polymorphism, Genetic
Promoter Regions, Genetic - genetics
Receptors, Cytoplasmic and Nuclear - chemistry - genetics - metabolism - physiology
Sp1 Transcription Factor - metabolism
Structure-Activity Relationship
Sweden
Transcription Factors - chemistry - genetics - metabolism - physiology
Transfection
U937 Cells
Abstract
The objective of this work was to explore the role of peroxisome proliferator-activated receptor delta (PPARD) in lipid metabolism in humans.
PPARD is a nuclear receptor involved in lipid metabolism in primates and mice. We screened the 5'-region of the human gene for polymorphisms to be used as tools in association studies. Four polymorphisms were detected: -409C/T in the promoter region, +73C/T in exon 1, +255A/G in exon 3, and +294T/C in exon 4. The frequencies of the rare alleles were 4.2%, 4.2%, 1.2% and 15.6%, respectively, in a population-based group of 543 healthy men. Only the +294T/C polymorphism showed significant association with a metabolic trait. Homozygotes for the rare C allele had a higher plasma LDL-cholesterol concentration than homozygotes for the common T allele, which was verified in an independent cohort consisting of 282 healthy men. Transfection studies showed that the rare C allele had higher transcriptional activity than the common T allele. Electrophoretic mobility shift assays demonstrated that the +294T/C polymorphism influenced binding of Sp-1. An interaction with the PPAR alpha L162V polymorphism was also detected for several lipid parameters.
These findings suggest that PPARD plays a role in cholesterol metabolism in humans.
PubMed ID
12615676 View in PubMed
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Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.

https://arctichealth.org/en/permalink/ahliterature98462
Source
Drug Metab Pharmacokinet. 2009;24(6):565-74
Publication Type
Article
Date
2009
Author
Fukushima-Uesaka, H
Saito, Y
Maekawa, K
Kurose, K
Sugiyama, E
Katori, N
Kaniwa, N
Hasegawa, R
Hamaguchi, T
Eguchi-Nakajima, T
Kato, K
Yamada, Y
Shimada, Y
Yoshida, T
Yamamoto, N
Nokihara, H
Kunitoh, H
Ohe, Y
Tamura, T
Ura, T
Saito, M
Muro, K
Doi, T
Fuse, N
Yoshino, T
Ohtsu, A
Saijo, N
Matsumura, Y
Okuda, H
Sawada, J
Author Affiliation
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo 158-8501, Japan.
Source
Drug Metab Pharmacokinet. 2009;24(6):565-74
Date
2009
Language
English
Publication Type
Article
Keywords
5' Untranslated Regions - genetics
Adenosine Triphosphatases - genetics
Amino Acid Substitution
Asian Continental Ancestry Group - genetics
Cation Transport Proteins - genetics
Cisplatin - metabolism
Copper - metabolism
Equilibrative Nucleoside Transporter 1
Gene Frequency
Genetic Variation
Genotype
Glucuronosyltransferase - genetics
Humans
Inuits - genetics
Linkage Disequilibrium
Membrane Transport Proteins - genetics - metabolism
Molecular Sequence Data
Platinum - metabolism
Polymorphism, Genetic
Polymorphism, Single Nucleotide - genetics
Tandem Repeat Sequences - genetics
Abstract
ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. By sequencing ATP7A, 38 genetic variations, including 30 novel ones were detected from 203 Japanese cancer patients. Of these, seven nonsynonymous variations were found: novel 1030A>G (R344G), 2111A>G (Q704R), 2200C>A (Q734K), 2948C>T (T983M) and 3112G>A (V1038I) at 0.004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at 0.351 and 0.075 frequencies, respectively. Regarding ATP7B, 28 novel and 33 known genetic variations were detected including 13 nonsynonymous ones: novel 1258A>G (M420V), 1426G>A (A476T), and 2401A>C (T801P) were found at 0.002, 0.005, and 0.002, respectively and known 1216G>T (A406S), 1366G>C (V456L), 2495A>G (K832R), 2785A>G (I929V), 2855G>A (R952K), 2871delC (P957PfsX9), 3419T>C (V1140A), 3836A>G (D1279G), 3886G>A (D1296N) and 3889G>A (V1297I) at 0.483, 0.463, 0.387, 0.005, 0.384, 0.005, 0.387, 0.002, 0.012, and 0.015 frequencies, respectively. Linkage disequilibrium between detected variations was also analyzed. Our results would provide fundamental and useful information for genotyping ATP7A and ATP7B in the Japanese and probably other Asian populations.
PubMed ID
20045993 View in PubMed
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25 records – page 1 of 3.