Skip header and navigation

Refine By

134 records – page 1 of 14.

Absence of the atypical mitochondrial aldehyde dehydrogenase (ALDH2) isozyme in Saskatchewan Cree Indians.

https://arctichealth.org/en/permalink/ahliterature221601
Source
Hum Hered. 1993 Mar-Apr;43(2):116-20
Publication Type
Article
Author
L E Dyck
Author Affiliation
Department of Psychiatry, University of Saskatchewan, Saskatoon, Canada.
Source
Hum Hered. 1993 Mar-Apr;43(2):116-20
Language
English
Publication Type
Article
Keywords
Alcohol Drinking - physiopathology
Aldehyde Dehydrogenase - genetics
Asia - ethnology
Asian Continental Ancestry Group - genetics
European Continental Ancestry Group - genetics
Flushing - etiology
Gene Expression Regulation, Enzymologic
Gene Frequency
Hair - enzymology
Humans
Indians, North American - genetics
Isoelectric Focusing
Isoenzymes - genetics
Mitochondria - enzymology
Phenotype
Questionnaires
Saskatchewan
Skin Tests
Abstract
Three methods were employed to assess whether human volunteers (Caucasian, Asian or Cree Indian) possessed the typical or atypical mitochondrial aldehyde dehydrogenase (ALDH2) isozyme. These methods were: (1) questioning individuals about facial flushing responses following alcohol consumption; (2) application of the ethanol skin patch test, and (3) direct analysis using isoelectric focusing and activity staining of ALDH activity in hair root samples. The results from the three methods were in good agreement and revealed that only the typical ALDH2 isozyme was expressed in Saskatchewan Cree Indians. In agreement with previous reports, the typical ALDH2 was expressed in the Caucasian group of subjects, while both the typical and atypical forms were expressed in the Asian subjects.
PubMed ID
8359813 View in PubMed
Less detail

Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood.

https://arctichealth.org/en/permalink/ahliterature6751
Source
JAMA. 2001 Mar 14;285(10):1316-21
Publication Type
Article
Date
Mar-14-2001
Author
A. Koch
M. Melbye
P. Sørensen
P. Homøe
H O Madsen
K. Mølbak
C H Hansen
L H Andersen
G W Hahn
P. Garred
Author Affiliation
Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen S, Denmark. ako@ssi.dk
Source
JAMA. 2001 Mar 14;285(10):1316-21
Date
Mar-14-2001
Language
English
Publication Type
Article
Keywords
Acute Disease
Alleles
Asian Continental Ancestry Group - genetics
Carrier Proteins - blood - genetics
European Continental Ancestry Group - genetics
Female
Genotype
Greenland - epidemiology
Humans
Infant
Inuits - genetics
Male
Mannose-Binding Lectins
Prospective Studies
Research Support, Non-U.S. Gov't
Respiratory Tract Infections - blood - epidemiology
Risk factors
Abstract
CONTEXT: Hospital-based studies have found that increased susceptibility to certain infections is associated with low serum levels of mannose-binding lectin (MBL) due to MBL variant alleles. However, the contribution of MBL insufficiency to incidence of common childhood infections at a population level is unknown. OBJECTIVE: To investigate the effect of MBL insufficiency on risk for acute respiratory tract infection (ARI) in unselected children younger than 2 years. DESIGN AND SETTING: Population-based, prospective, cohort study conducted in Sisimiut, Greenland. PARTICIPANTS: Two hundred fifty-two children younger than 2 years who were followed up weekly between August 1996 and August 1998 for morbidity surveillance. MAIN OUTCOME MEASURE: Risk of ARI, based on medical history and clinical examination, compared by MBL genotype, determined from blood samples based on presence of structural and promoter alleles. RESULTS: A 2.08-fold (95% confidence interval [CI], 1.41-3.06) increased relative risk (RR) of ARI was found in MBL-insufficient children (n = 13) compared with MBL-sufficient children (n = 239; P
Notes
Comment In: JAMA. 2001 Mar 14;285(10):1348-911255392
PubMed ID
11255386 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

Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.

https://arctichealth.org/en/permalink/ahliterature268546
Source
PLoS One. 2014;9(6):e100848
Publication Type
Article
Date
2014
Author
Nikolay A Barashkov
Fedor M Teryutin
Vera G Pshennikova
Aisen V Solovyev
Leonid A Klarov
Natalya A Solovyeva
Andrei A Kozhevnikov
Lena M Vasilyeva
Elvira E Fedotova
Maria V Pak
Sargylana N Lekhanova
Elena V Zakharova
Kyunney E Savvinova
Nyurgun N Gotovtsev
Adyum M Rafailo
Nikolay V Luginov
Anatoliy N Alexeev
Olga L Posukh
Lilya U Dzhemileva
Elza K Khusnutdinova
Sardana A Fedorova
Source
PLoS One. 2014;9(6):e100848
Date
2014
Language
English
Publication Type
Article
Keywords
Age Factors
Asian Continental Ancestry Group - genetics
Connexins - chemistry - genetics - physiology
DNA Mutational Analysis
Founder Effect
Hearing Loss - genetics
Humans
Mutation
Siberia
Abstract
Age-Related Hearing Impairment (ARHI) is one of the frequent sensory disorders registered in 50% of individuals over 80 years. ARHI is a multifactorial disorder due to environmental and poor-known genetic components. In this study, we present the data on age-related hearing impairment of 48 heterozygous carriers of mutation IVS1+1G>A (GJB2 gene) and 97 subjects with GJB2 genotype wt/wt in the Republic of Sakha/Yakutia (Eastern Siberia, Russia). This subarctic territory was found as the region with the most extensive accumulation of mutation IVS1+1G>A in the world as a result of founder effect in the unique Yakut population isolate. The GJB2 gene resequencing and detailed audiological analysis in the frequency range 0.25, 0.5, 1.0, 2.0, 4.0, 8.0 kHz were performed in all examined subjects that allowed to investigate genotype-phenotype correlations between the presence of single mutation IVS1+1G>A and hearing of subjects from examined groups. We revealed the linear correlation between increase of average hearing thresholds at speech frequencies (PTA0.5,1.0,2.0,4.0 kHz) and age of individuals with GJB2 genotype IVS1+1G>A/wt (rs?=?0.499, p?=?0.006860 for males and rs?=?0.427, p?=?0.000277 for females). Moreover, the average hearing thresholds on high frequency (8.0 kHz) in individuals with genotype IVS1+1G>A/wt (both sexes) were significantly worse than in individuals with genotype wt/wt (pA/wt was estimated to be ~40 years (rs?=?0.504, p?=?0.003). These findings demonstrate that the single IVS1+1G>A mutation (GJB2) is associated with age-related hearing impairment (ARHI) of the IVS1+1G>A carriers in the Yakuts.
Notes
Cites: Brain Res Brain Res Rev. 2000 Apr;32(1):159-6210928803
Cites: Hear Res. 2013 Sep;303:30-823422312
Cites: Hear Res. 2003 Jan;175(1-2):140-5112527132
Cites: Ann N Y Acad Sci. 1991;630:16-311952587
Cites: Nature. 1997 May 1;387(6628):80-39139825
Cites: Am J Hum Genet. 1997 May;60(5):1174-839150165
Cites: Hum Mol Genet. 1997 Sep;6(9):1605-99285800
Cites: Am J Hum Genet. 1998 Apr;62(4):792-99529365
Cites: N Engl J Med. 1998 Nov 19;339(21):1500-59819448
Cites: Lancet. 2005 Mar 5-11;365(9462):879-9015752533
Cites: Eur Arch Otorhinolaryngol. 2005 Nov;262(11):921-415895291
Cites: Hum Genet. 2006 Oct;120(3):334-5316845541
Cites: J Genet. 2006 Dec;85(3):213-617406097
Cites: Otol Neurotol. 2007 Oct;28(7):970-517909436
Cites: Hum Mol Genet. 2008 Jan 15;17(2):159-6917921507
Cites: Mol Biol (Mosk). 2008 Mar-Apr;42(2):226-3718610830
Cites: J Assoc Res Otolaryngol. 2008 Sep;9(3):264-76; discussion 261-318543032
Cites: Am J Hum Genet. 2008 Sep;83(3):401-718760390
Cites: Hum Mol Genet. 2009 Feb 15;18(4):785-9619047183
Cites: Eur J Hum Genet. 2010 Jun;18(6):685-9320068591
Cites: J Hum Genet. 2011 Sep;56(9):631-921776002
Cites: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Jul;46(7):543-622088281
Cites: BMC Evol Biol. 2013;13:12723782551
Cites: Physiol Res. 2013 Jul 18;62(3):323-3023489192
Cites: Hear Res. 2002 Jan;163(1-2):93-10011788203
PubMed ID
24959830 View in PubMed
Less detail

Allotype distribution of human T cell receptor beta and gamma chain genes in Caucasians, Asians and Australian aborigines: relevance to chronic hepatitis B.

https://arctichealth.org/en/permalink/ahliterature224096
Source
Hum Genet. 1992 Apr;89(1):59-63
Publication Type
Article
Date
Apr-1992
Author
P. Soeharso
K M Summers
W G Cooksley
Author Affiliation
Department of Biochemistry, University of Queensland, Australia.
Source
Hum Genet. 1992 Apr;89(1):59-63
Date
Apr-1992
Language
English
Publication Type
Article
Keywords
Alleles
Asian Continental Ancestry Group - genetics
Blotting, Southern
Carrier State - immunology
Chronic Disease
Continental Population Groups
European Continental Ancestry Group - genetics
Hepatitis B - genetics - immunology
Humans
Oceanic Ancestry Group - genetics
Polymorphism, Restriction Fragment Length
Receptors, Antigen, T-Cell, alpha-beta - genetics - immunology
Receptors, Antigen, T-Cell, gamma-delta - genetics - immunology
Abstract
RFLPs of TCR beta and gamma genes have been analyzed in chronic HBV carriers of three different ethnic populations to determine if there is an association of TCR allotypes with the development of chronic hepatitis B. The RFLPs of TCR beta and gamma genes were defined respectively by BglII and PvuII genomic fragments on Southern blots. These methods allow allotype assignment. The distribution of TCR beta alleles showed ethnic variation, with one allele significantly decreased in Australian Aborigines, but there was no association with chronic hepatitis B. The distribution of TCR gamma alleles did not show ethnic variation. However, a significant frequency decrease of one allele occurred in Aboriginal HBV carriers, suggesting the possibility of involvement of TCR gamma allotypes in the development of the chronic HBV carrier state in Australian Aborigines.
PubMed ID
1349565 View in PubMed
Less detail

Alu insertion polymorphisms in Native Americans and related Asian populations.

https://arctichealth.org/en/permalink/ahliterature169340
Source
Ann Hum Biol. 2006 Mar-Apr;33(2):142-60
Publication Type
Article
Author
Jaqueline Battilana
Nelson J R Fagundes
Ana H Heller
Angela Goldani
Loreta B Freitas
Eduardo Tarazona-Santos
Batmunkh Munkhbat
Namid Munkhtuvshin
Mlu Krylov
Lidia Benevolenskaia
Frank C Arnett
Mark A Batzer
Prescott L Deininger
Francisco M Salzano
Sandro L Bonatto
Author Affiliation
Centro de Biologia Genômica e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Biociências, Porto Alegre, RS, Brazil.
Source
Ann Hum Biol. 2006 Mar-Apr;33(2):142-60
Language
English
Publication Type
Article
Keywords
Alu Elements - genetics
Asian Continental Ancestry Group - genetics
Emigration and Immigration - history
Ethnic Groups - genetics
Female
Gene Frequency
Genetic markers
Genetics, Population
Heterozygote
History, Ancient
Humans
Indians, North American - genetics
Indians, South American - genetics
Male
Mutagenesis, Insertional
Polymorphism, Genetic
Principal Component Analysis
Siberia - ethnology
Abstract
Alu insertions provide useful markers for the study of inter-population affinities and historical processes, but data on these systems are not numerous in Native Americans and related populations.
The study aimed to answer the following questions: (a) do the population relationships found agree with ethnic, historical and geographical data? and (b) what can heterozygote levels and associated results inform us about the events that led to the colonization of the New World?
Twelve Alu insertion polymorphisms were studied in 330 individuals belonging to South American Native, Siberian and Mongolian populations. These data were integrated with those from 526 persons, to ascertain the relationships between Asian, Northern Arctic and Amerindian populations.
A decreasing trend concerning heterozygosities and amount of gene flow was observed in the three sets, in the order indicated above. Most results indicated the validity of these subdivisions. However, no clear structure could be observed within South American Natives, indicating the importance of dispersive (genetic drift, founder effects) factors in their differentiation.
The answers to the questions are: (a) yes; and (b) an initial moderate bottleneck, intensified by more recent historical events (isolation and inbreeding), can explain the current Amerindian pattern of diversity.
PubMed ID
16684689 View in PubMed
Less detail

Analysis of East Asia genetic substructure using genome-wide SNP arrays.

https://arctichealth.org/en/permalink/ahliterature153881
Source
PLoS One. 2008;3(12):e3862
Publication Type
Article
Date
2008
Author
Chao Tian
Roman Kosoy
Annette Lee
Michael Ransom
John W Belmont
Peter K Gregersen
Michael F Seldin
Author Affiliation
Department of Biochemistry, Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America.
Source
PLoS One. 2008;3(12):e3862
Date
2008
Language
English
Publication Type
Article
Keywords
Asian Continental Ancestry Group - genetics
Far East - ethnology
Genetic Markers - genetics
Genetic Predisposition to Disease
Genetics, Population
Genome, Human
Genome-Wide Association Study
Genotype
Humans
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Principal Component Analysis
Abstract
Accounting for population genetic substructure is important in reducing type 1 errors in genetic studies of complex disease. As efforts to understand complex genetic disease are expanded to different continental populations the understanding of genetic substructure within these continents will be useful in design and execution of association tests. In this study, population differentiation (Fst) and Principal Components Analyses (PCA) are examined using >200 K genotypes from multiple populations of East Asian ancestry. The population groups included those from the Human Genome Diversity Panel [Cambodian, Yi, Daur, Mongolian, Lahu, Dai, Hezhen, Miaozu, Naxi, Oroqen, She, Tu, Tujia, Naxi, Xibo, and Yakut], HapMap [ Han Chinese (CHB) and Japanese (JPT)], and East Asian or East Asian American subjects of Vietnamese, Korean, Filipino and Chinese ancestry. Paired Fst (Wei and Cockerham) showed close relationships between CHB and several large East Asian population groups (CHB/Korean, 0.0019; CHB/JPT, 00651; CHB/Vietnamese, 0.0065) with larger separation with Filipino (CHB/Filipino, 0.014). Low levels of differentiation were also observed between Dai and Vietnamese (0.0045) and between Vietnamese and Cambodian (0.0062). Similarly, small Fst's were observed among different presumed Han Chinese populations originating in different regions of mainland of China and Taiwan (Fst's
Notes
Cites: PLoS Genet. 2008 Jan;4(1):e518208330
Cites: PLoS Genet. 2008 Jan;4(1):e418208329
Cites: PLoS Genet. 2008 May;4(5):e100007818497854
Cites: Arthritis Rheum. 2008 Jul;58(7):1940-618576330
Cites: Hum Mol Genet. 2008 Oct 15;17(R2):R143-5018852203
Cites: Hum Mutat. 2009 Jan;30(1):69-7818683858
Cites: Am J Hum Genet. 1999 Dec;65(6):1718-2410577926
Cites: Genetics. 2000 Jun;155(2):945-5910835412
Cites: Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):14003-611095712
Cites: Am J Hum Genet. 2001 Sep;69(3):615-2811481588
Cites: Am J Hum Genet. 2002 Mar;70(3):635-5111836649
Cites: Nat Genet. 2003 Aug;34(4):395-40212833157
Cites: Genetics. 2003 Aug;164(4):1567-8712930761
Cites: Nat Genet. 2003 Dec;35(4):341-814608356
Cites: Am J Hum Genet. 2003 Dec;73(6):1402-2214631557
Cites: Nature. 2003 Dec 18;426(6968):789-9614685227
Cites: J Urban Health. 2004 Jun;81(2):301-1015136663
Cites: Genetics. 1992 Jan;130(1):139-521346259
Cites: Mol Biol Evol. 1993 Sep;10(5):927-438412653
Cites: Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11763-89751739
Cites: Nat Rev Genet. 2005 Apr;6(4):333-4015803201
Cites: Am J Hum Genet. 2005 Sep;77(3):408-1916080116
Cites: Nature. 2005 Oct 27;437(7063):1299-32016255080
Cites: Nat Genet. 2006 Aug;38(8):904-916862161
Cites: PLoS Genet. 2006 Sep 15;2(9):e14317044734
Cites: Science. 2006 Dec 1;314(5804):1461-317068223
Cites: Am J Hum Genet. 2007 May;80(5):948-5617436249
Cites: Philos Trans R Soc Lond B Biol Sci. 2007 Jun 29;362(1482):987-9517317646
Cites: Genes Immun. 2007 Jun;8(4):302-717361200
Cites: Arthritis Res Ther. 2007;9(2):R3217389033
Cites: Am J Hum Genet. 2007 Sep;81(3):559-7517701901
Cites: Mol Med. 2007 Sep-Oct;13(9-10):455-6017932559
Cites: PLoS Genet. 2008 Jan;4(1):e23618208327
Cites: Science. 2008 Feb 22;319(5866):1100-418292342
PubMed ID
19057645 View in PubMed
Less detail

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

https://arctichealth.org/en/permalink/ahliterature33073
Source
Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7
Publication Type
Article
Author
L A Larsen
J S Armstrong
K. Grønskov
H. Hjalgrim
K. Brøndum-Nielsen
L. Hasholt
B. Nørgaard-Pedersen
J. Vuust
Author Affiliation
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. lal@ssi.dk
Source
Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7
Language
English
Publication Type
Article
Keywords
Alleles
Asia
Asian Continental Ancestry Group - genetics
Child
Child, Preschool
Family
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome - ethnology - genetics
Gene Frequency
Genetics, Population
Greenland
Haplotypes
Humans
Infant, Newborn
Inuits - genetics
Male
Nerve Tissue Proteins - genetics
Pedigree
RNA-Binding Proteins
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Trinucleotide Repeats - genetics
Abstract
The fragile X syndrome is caused by the expansion of a polymorphic (CGG)n tract in the promoter region of the FMR1 gene. Apparently the incidence of fragile X syndrome is rare in the population of Greenland. In order to examine population-related factors involved in stability of the (CGG)n sequence, DNA samples obtained randomly from the Greenlandic population were analysed for size and AGG interspersion pattern of the FMR1 (CGG)n region and associated DXS548-FRAXAC1 haplotypes. In addition a large Greenland family with unstable transmission in the premutation range was analysed. The (CGG)n allele sizes in the Greenland population showed a narrow distribution similar to that reported for Asian populations. DNA sequencing of alleles with 36 CGG repeats revealed an AGG(CGG)6 insertion previously reported exclusively in Asian populations and a high frequency of alleles with a (CGG)10AGG(CGG)9AGG(CGG)9 or (CGG)9AGG(CGG)9AGG(CGG)6AGG(CGG)9 sequence pattern was found. Thus the data confirm the Asian origin of the Greenlandic (Eskimo) population and indicates that some (CGG)n alleles have remained stable for 15-30,000 years, since the population of the New World arrived from Asia via the Bering Strait.
PubMed ID
10573009 View in PubMed
Less detail

Application of principal component analysis to pharmacogenomic studies in Canada.

https://arctichealth.org/en/permalink/ahliterature149314
Source
Pharmacogenomics J. 2009 Dec;9(6):362-72
Publication Type
Article
Date
Dec-2009
Author
H. Visscher
C J D Ross
M-P Dubé
A M K Brown
M S Phillips
B C Carleton
M R Hayden
Author Affiliation
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Source
Pharmacogenomics J. 2009 Dec;9(6):362-72
Date
Dec-2009
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Asian Continental Ancestry Group - genetics
Biotransformation - genetics
Canada
Drug-Related Side Effects and Adverse Reactions
Ethnic Groups - genetics
European Continental Ancestry Group - genetics
Gene Frequency
Genetics, Population
Genome-Wide Association Study
Humans
Pharmacogenetics - methods
Polymorphism, Single Nucleotide
Principal Component Analysis
Abstract
Ethnicity can confound results in pharmacogenomic studies. Allele frequencies of loci that influence drug metabolism can vary substantially between different ethnicities and underlying ancestral genetic differences can lead to spurious findings in pharmacogenomic association studies. We evaluated the application of principal component analysis (PCA) in a pharmacogenomic study in Canada to detect and correct for genetic ancestry differences using genotype data from 2094 loci in 220 key drug biotransformation genes. Using 89 Coriell worldwide reference samples, we observed a strong correlation between principal component values and geographic origin. We further applied PCA to accurately infer the genetic ancestry in our ethnically diverse Canadian cohort of 524 patients from the GATC study of severe adverse drug reactions. We show that PCA can be successfully applied in pharmacogenomic studies using a limited set of markers to detect underlying differences in genetic ancestry thereby maximizing power and minimizing false-positive findings.
PubMed ID
19652663 View in PubMed
Less detail

Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample.

https://arctichealth.org/en/permalink/ahliterature87147
Source
Cardiovasc Diabetol. 2008;7:5
Publication Type
Article
Date
2008
Author
Al-Attar Salam A
Pollex Rebecca L
Ban Matthew R
Young T Kue
Bjerregaard Peter
Anand Sonia S
Yusuf Salim
Zinman Bernard
Harris Stewart B
Hanley Anthony Jg
Connelly Philip W
Huff Murray W
Hegele Robert A
Author Affiliation
Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada. salattar@robarts.ca
Source
Cardiovasc Diabetol. 2008;7:5
Date
2008
Language
English
Publication Type
Article
Keywords
Adult
Asian Continental Ancestry Group - genetics
Body Size - genetics
Canada - epidemiology
Cholesterol, HDL - blood
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Indians, North American - genetics
Inuits - genetics
Male
Metabolic Syndrome X - blood - ethnology - genetics
Middle Aged
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Proteins - genetics
Risk assessment
Risk factors
Sex Factors
Abstract
BACKGROUND: The rs9939609 T>A single-nucleotide polymorphism (SNP) in the FTO gene has previously been found to be associated with obesity in European Caucasian samples. The objective of this study is to examine whether this association extends to metabolic syndrome (MetS) and applies in non-Caucasian samples. METHODS: The FTO rs9939609 SNP was genotyped in 2121 subjects from four different non-Caucasian geographical ancestries. Subjects were classified for the presence or absence of MetS according to the International Diabetes Federation (IDF) and National Cholesterol Education Program Adult Treatment Panel (NCEP ATP) III definitions. RESULTS: Carriers of > or = 1 copy of the rs9939609 A allele were significantly more likely to have IDF-defined MetS (35.8%) than non-carriers (31.2%), corresponding to a carrier odds ratio (OR) of 1.23 (95% confidence interval [CI] 1.01 to 1.50), with a similar trend for the NCEP ATP III-defined MetS. Subgroup analysis showed that the association was particularly strong in men. The association was related to a higher proportion of rs9939609 A allele carriers meeting the waist circumference criterion; a higher proportion also met the HDL cholesterol criterion compared with wild-type homozygotes. CONCLUSION: Thus, the FTO rs9939609 SNP was associated with an increased risk for MetS in this multi-ethnic sample, confirming that the association extends to non-Caucasian population samples.
PubMed ID
18339204 View in PubMed
Less detail

134 records – page 1 of 14.