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ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin.

https://arctichealth.org/en/permalink/ahliterature150732
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Publication Type
Article
Date
Aug-2009
Author
J E Keskitalo
O. Zolk
M F Fromm
K J Kurkinen
P J Neuvonen
M. Niemi
Author Affiliation
Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Date
Aug-2009
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adult
Anticholesteremic Agents - pharmacokinetics
Area Under Curve
Cross-Over Studies
Drug Resistance, Multiple
European Continental Ancestry Group - genetics
Female
Finland
Fluorobenzenes - administration & dosage - blood - pharmacokinetics - urine
Genotype
Heptanoic Acids - administration & dosage - blood - pharmacokinetics - urine
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics
Linear Models
Male
Neoplasm Proteins - genetics
Polymorphism, Single Nucleotide
Pyrimidines - administration & dosage - blood - pharmacokinetics - urine
Pyrroles - administration & dosage - blood - pharmacokinetics - urine
Reference Values
Sulfonamides - administration & dosage - blood - pharmacokinetics - urine
Abstract
The ABCG2 c.421C>A single-nucleotide polymorphism (SNP) was determined in 660 healthy Finnish volunteers, of whom 32 participated in a pharmacokinetic crossover study involving the administration of 20 mg atorvastatin and rosuvastatin. The frequency of the c.421A variant allele was 9.5% (95% confidence interval 8.1-11.3%). Subjects with the c.421AA genotype (n = 4) had a 72% larger mean area under the plasma atorvastatin concentration-time curve from time 0 to infinity (AUC(0-infinity)) than individuals with the c.421CC genotype had (n = 16; P = 0.049). In participants with the c.421AA genotype, the rosuvastatin AUC(0-infinity) was 100% greater than in those with c.421CA (n = 12) and 144% greater than in those with the c.421CC genotype. Also, those with the c.421AA genotype showed peak plasma rosuvastatin concentrations 108% higher than those in the c.421CA genotype group and 131% higher than those in the c.421CC genotype group (P
PubMed ID
19474787 View in PubMed
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ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.

https://arctichealth.org/en/permalink/ahliterature140771
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Publication Type
Article
Date
Oct-2010
Author
Frank E Döring
Simone Onur
Ulf Geisen
Marcel R Boulay
Louis Pérusse
Tuomo Rankinen
Rainer Rauramaa
Bernd Wolfahrt
C. Bouchard
Author Affiliation
Institute of Human Nutrition and Food Science, Christian-Albrechts-University Kiel, Kiel, Germany. vgoyrgoy@phyed.duth.gr
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Date
Oct-2010
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Athletes
Athletic Performance
European Continental Ancestry Group - genetics
Finland
Gene Frequency
Genotype
Germany
Homozygote
Humans
Male
North America
Odds Ratio
Physical Endurance - genetics
Polymorphism, Single Nucleotide
Abstract
Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to a-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging single nucleotide polymorphisms (htSNPs) of the ACTN3 gene (rs1791690 and rs2275998) in the Genathlete study comprising 316 male elite endurance athletes (VO2max 79.0+3.5 ml · kg(-1) · min(-1); mean +/- s) from North America, Finland, and Germany and 304 sedentary controls (VO2max 40.1+7.0 ml · kg(-1) · min(-1) matched by country of origin. The distribution of genotype and allele frequencies between the two groups was tested by Pearson chi-square and/or Fischer exact test. The prevalence of the 577X homozygote genotype was similar in endurance athletes and controls (20% and 17.5%, respectively). The resulting odds ratio for endurance performance in 577X homozygotes compared with 577R-allele carriers was 1.24 (95%CI 0.82-1.87, P = 0.3). The genotype distribution of the two htSNPs and haplotype frequencies did not differ significantly between athletes and controls. In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males.
PubMed ID
20845221 View in PubMed
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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
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Adiponectin receptor 1 gene (ADIPOR1) variant is associated with advanced age-related macular degeneration in Finnish population.

https://arctichealth.org/en/permalink/ahliterature126460
Source
Neurosci Lett. 2012 Apr 4;513(2):233-7
Publication Type
Article
Date
Apr-4-2012
Author
Kai Kaarniranta
Jussi Paananen
Tanja Nevalainen
Iiris Sorri
Sanna Seitsonen
Ilkka Immonen
Antero Salminen
Leena Pulkkinen
Matti Uusitupa
Author Affiliation
Department of Ophthalmology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland; Department of Ophthalmology, Kuopio University Hospital, Kuopio, Finland.
Source
Neurosci Lett. 2012 Apr 4;513(2):233-7
Date
Apr-4-2012
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Alleles
European Continental Ancestry Group - genetics
Female
Finland
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Macular Degeneration - genetics
Male
Polymorphism, Single Nucleotide
Receptors, Adiponectin - genetics
Abstract
Adiponectin is an adipocyte-expressed protein that regulates the glucose, lipid, and energy metabolism via adiponectin receptors 1 and 2. Obesity is a known risk factor for age-related macular degeneration (AMD). We, therefore, examined associations of single nucleotide polymorphisms in Adiponectin (ADIPOQ) and Adiponectin receptors 1 and 2 (ADIPOR1 and ADIPOR2) genes with the prevalence of advanced AMD in Finnish population. Thirty-seven markers for ADIPOQ, ADIPOR1 and ADIPOR2 were genotyped in a sample collection of 91 men and 177 women having exudative AMD and 18 men and 26 women having severe atrophic AMD. Patients were diagnosed by fundus photographs and fluorescein angiography. The control group (no signs of AMD in fundus photographs) consisted of 55 men and 111 women. Inclusion criteria age was over 65 years old without diabetes diagnosis. Out of the tested SNPs, rs10753929 located in intron of ADIPOR1 gene was significantly associated (p=0.0471) with AMD status when using a permutation procedure that controlled for the number of tested genotypes and genetic models. Odds ratio (OR) for the association was 1.699 (95% CI 1.192-2.423). The SNP consists of C/T alleles and the risk allele T had a minor allele frequency (MAF) of 20.4%. Distribution of proportion of cases/controls between alleles revealed an additive genetic model. Our findings reveal that rs10753929 ADIPOR1 variant is a novel candidate for AMD genetic risk factor in Finnish population.
PubMed ID
22387454 View in PubMed
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Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas.

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

https://arctichealth.org/en/permalink/ahliterature119979
Source
Genes Immun. 2012 Dec;13(8):632-40
Publication Type
Article
Date
Dec-2012
Author
A. Gyllenberg
S. Asad
F. Piehl
M. Swanberg
L. Padyukov
B. Van Yserloo
E A Rutledge
B. McNeney
J. Graham
M. Orho-Melander
E. Lindholm
C. Graff
C. Forsell
K. Akesson
M. Landin-Olsson
A. Carlsson
G. Forsander
S A Ivarsson
H. Larsson
B. Lindblad
J. Ludvigsson
C. Marcus
A. Lernmark
L. Alfredsson
T. Olsson
I. Kockum
Author Affiliation
Neuroimmunology Unit, Department of Clinical Neuroscience, Centre for Molecular Medicine, L8:05, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. alexandra.gyllenberg@ki.se
Source
Genes Immun. 2012 Dec;13(8):632-40
Date
Dec-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Alleles
Case-Control Studies
Child
Child, Preschool
Diabetes Mellitus, Type 1 - genetics
European Continental Ancestry Group
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Infant
Infant, Newborn
Lectins, C-Type - genetics
Linkage Disequilibrium
Male
Monosaccharide Transport Proteins - genetics
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide
Sweden
Trans-Activators - genetics
Abstract
The major histocompatibility complex class II transactivator (CIITA) gene (16p13) has been reported to associate with susceptibility to multiple sclerosis, rheumatoid arthritis and myocardial infarction, recently also to celiac disease at genome-wide level. However, attempts to replicate association have been inconclusive. Previously, we have observed linkage to the CIITA region in Scandinavian type 1 diabetes (T1D) families. Here we analyze five Swedish T1D cohorts and a combined control material from previous studies of CIITA. We investigate how the genotype distribution within the CIITA gene varies depending on age, and the association to T1D. Unexpectedly, we find a significant difference in the genotype distribution for markers in CIITA (rs11074932, P=4 × 10(-5) and rs3087456, P=0.05) with respect to age, in the collected control material. This observation is replicated in an independent cohort material of about 2000 individuals (P=0.006, P=0.007). We also detect association to T1D for both markers, rs11074932 (P=0.004) and rs3087456 (P=0.001), after adjusting for age at sampling. The association remains independent of the adjacent T1D risk gene CLEC16A. Our results indicate an age-dependent variation in CIITA allele frequencies, a finding of relevance for the contrasting outcomes of previously published association studies.
PubMed ID
23052709 View in PubMed
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AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects.

https://arctichealth.org/en/permalink/ahliterature93517
Source
Diabetes. 2008 May;57(5):1427-32
Publication Type
Article
Date
May-2008
Author
Andersen Gitte
Burgdorf Kristoffer Sølvsten
Sparsø Thomas
Borch-Johnsen Knut
Jørgensen Torben
Hansen Torben
Pedersen Oluf
Author Affiliation
Steno Diabetes Center, Niels Steensens Vej 1, NLC2.12, DK-2820 Gentofte, Denmark. gtta@steno.dk
Source
Diabetes. 2008 May;57(5):1427-32
Date
May-2008
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Signal Transducing - genetics
Blood Proteins - genetics
Denmark
Diabetes Mellitus, Type 2 - complications - genetics
Dyslipidemias - complications - genetics
European Continental Ancestry Group - genetics
Female
Genetic Variation
Hemoglobin A, Glycosylated - analysis
Humans
Insulin Receptor Substrate Proteins
Male
Middle Aged
Obesity - genetics
Polymorphism, Single Nucleotide
Abstract
OBJECTIVE: The gene encoding the alpha2 Heremans-Schmid glycoprotein (AHSG) is a credible biological and positional candidate gene for type 2 diabetes and the metabolic syndrome, and previous attempts to relate AHSG variation with type 2 diabetes and obesity in Swedish and French Caucasians have been largely successful. We related seven frequent AHSG tag single nucleotide polymorphisms to a range of metabolic traits, including type 2 diabetes, obesity, and dyslipidemia. RESEARCH DESIGN AND METHODS: The polymorphisms were genotyped in 7,683 white Danish subjects using Taqman allelic discrimination or chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, providing a statistical power of >99% to replicate previous findings. Data were analyzed in case-control and haplotype settings, and quantitative metabolic traits were examined for association. Moreover, epistatic effects between AHSG variants and insulin receptor substrate-1 (IRS1) and beta-2-adrenergic receptor polymorphisms were investigated. RESULTS: The -469T>G (rs2077119) and IVS6+98C>T (rs2518136) polymorphisms were associated with type 2 diabetes (P = 0.007 and P = 0.006, respectively, or P(corr) = 0.04 and P(corr) = 0.03, respectively, following correction for multiple hypothesis testing), and in a combined analysis of the present and a previous study -469T>G remained significant (odds ratio 0.90 [95% CI 0.84-0.97]; P = 0.007). Furthermore, two AHSG haplotypes were associated with dyslipidemia (P = 0.003 and P(corr) = 0.009). Thr248Met (rs4917) tended to associate with lower fasting and post-oral glucose tolerance test serum insulin release (P = 0.02, P(corr) = 0.1 for fasting and P = 0.04, P(corr) = 0.2 for area under the insulin curve) and improved insulin sensitivity estimated by the homeostasis model assessment of insulin resistance (9.0 vs. 8.6 mmol x l(-1) x pmol(-1) x l(-1); P = 0.01, P(corr) = 0.06). Indications of epistatic effects of AHSG variants with the IRS1 Gly971Arg polymorphism were observed for fasting serum triglyceride concentrations. CONCLUSIONS: Based on present and previous findings, common variation in AHSG may contribute to the interindividual variation in metabolic traits.
PubMed ID
18316360 View in PubMed
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Allelic imbalance at rs6983267 suggests selection of the risk allele in somatic colorectal tumor evolution.

https://arctichealth.org/en/permalink/ahliterature159495
Source
Cancer Res. 2008 Jan 1;68(1):14-7
Publication Type
Article
Date
Jan-1-2008
Author
Sari Tuupanen
Iina Niittymäki
Kari Nousiainen
Sakari Vanharanta
Jukka-Pekka Mecklin
Kyösti Nuorva
Heikki Järvinen
Sampsa Hautaniemi
Auli Karhu
Lauri A Aaltonen
Author Affiliation
Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, P.O. Box 63, FIN-00014 Helsinki, Finland.
Source
Cancer Res. 2008 Jan 1;68(1):14-7
Date
Jan-1-2008
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Allelic Imbalance
Chromosomes, Human, Pair 8 - genetics
Colorectal Neoplasms - genetics
DNA, Neoplasm
European Continental Ancestry Group - genetics
Evolution, Molecular
Female
Finland
Heterozygote
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Risk
Selection, Genetic
Sequence Analysis, DNA
Abstract
A common single nucleotide polymorphism (SNP), rs6983267, at 8q24.21 has recently been shown to associate with colorectal cancer (CRC). Three independent SNP association studies showed that rs6983267 contributes to CRC with odds ratios (OR) of 1.17 to 1.22. Here, we genotyped a population-based series of 1,042 patients with CRC and 1,012 healthy controls for rs6983267 and determined the contribution of SNP to CRC in Finland, using germ line DNA, as well as the respective cancer DNA in heterozygous patients. The comprehensive clinical data available from the 1,042 patients and their first-degree relatives enabled us to thoroughly examine the possible association of this variant with different clinical features. As expected, a significant association between the G allele of rs6983267 and CRC [OR, 1.22; 95% confidence interval (CI), 1.08-1.38; P = 0.0018] was found, confirming the previous observations. A trend towards association of the G allele with microsatellite-stable cancer (OR, 1.37; 95% CI, 1.02-1.85; P = 0.04) and family history of cancers other than CRC was seen (OR, 1.20; 95% CI, 1-1.43; P = 0.05). Four hundred and sixty-six GT heterozygotes identified in this study were analyzed for allelic imbalance at rs6983267 in the respective cancer DNA. One hundred and one tumors showed allelic imbalance (22%). The risk allele G was favored in 67 versus 34 tumors (P = 0.0007). This finding implicates that the underlying germ line genetic defect in 8q24.21 is a target in the somatic evolution of CRC.
PubMed ID
18172290 View in PubMed
Less detail

Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene.

https://arctichealth.org/en/permalink/ahliterature80069
Source
Diabetes. 2006 Nov;55(11):3166-74
Publication Type
Article
Date
Nov-2006
Author
Vionnet Nathalie
Tregouët David
Kazeem Gbenga
Gut Ivo
Groop Per-Henrik
Tarnow Lise
Parving Hans-Henrik
Hadjadj Samy
Forsblom Carol
Farrall Martin
Gauguier Dominique
Cox Roger
Matsuda Fumihiko
Heath Simon
Thévard Alexandre
Rousseau Rachel
Cambien François
Marre Michel
Lathrop Mark
Author Affiliation
INSERM U525, Centre National de Génotypage, 2, Rue Gaston Crémieux, 91006 Evry Cedex, France. vionnet@cng.fr
Source
Diabetes. 2006 Nov;55(11):3166-74
Date
Nov-2006
Language
English
Publication Type
Article
Keywords
Chromosome Mapping
Chromosomes, Human, Pair 3
Coronary Disease - genetics
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - genetics
Diabetic Nephropathies - genetics
Europe
European Continental Ancestry Group
Female
Gene Frequency
Genotype
Humans
Male
Obesity - genetics
Pedigree
Polymorphism, Single Nucleotide
Reference Values
Risk factors
Abstract
Linkage studies have mapped loci for diabetic nephropathy and associated phenotypes on chromosome 3q. We studied 14 plausible candidate genes in the linkage region because of their potential role in vascular complications. In a large-scale study of patients from Denmark, Finland, and France who have type 1 diabetes, 1,057 case and 1,127 control subjects, as well as 532 trios, were investigated for association with diabetic nephropathy. We analyzed 69 haplotype-tagging single nucleotide polymorphisms and nonsynonymous variants that were identified by sequencing. Polymorphisms in three genes, glucose transporter 2 (SLC2A2), kininogen (KNG1), and adiponectin (ADIPOQ), showed nominal association with diabetic nephropathy in single-point analysis. The T-allele of SLC2A2_16459CT was associated with a decreased risk of diabetic nephropathy (odds ratio 0.79 [95% CI 0.66-0.96], P = 0.016), whereas the T-allele of KNG_7965CT and the A-allele of ADIPOQ_prom2GA were associated with increased risk of nephropathy (1.17 [1.03-1.32], P = 0.016; 1.46 [1.11-1.93], P = 0.006, respectively). Analyses of the transmission disequilibrium test showed similar trends only for ADIPOQ_prom2GA with the overtransmission of the A-allele to patients with diabetic nephropathy (1.52 [0.86-2.66], P = NS) and of the G-allele to patients without diabetic nephropathy (0.50 [0.27-0.92], P = 0.026). The overall significance for this variant (nominal P = 0.011) suggests that ADIPOQ might be involved in the development of diabetic nephropathy.
PubMed ID
17065357 View in PubMed
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Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.

https://arctichealth.org/en/permalink/ahliterature153695
Source
Hum Hered. 2009;67(3):193-205
Publication Type
Article
Date
2009
Author
Wendy K Chung
Amit Patki
Naoki Matsuoka
Bert B Boyer
Nianjun Liu
Solomon K Musani
Anna V Goropashnaya
Perciliz L Tan
Nicholas Katsanis
Stephen B Johnson
Peter K Gregersen
David B Allison
Rudolph L Leibel
Hemant K Tiwari
Author Affiliation
Columbia University Medical Center, New York, NY 10032, USA. wkc15@columbia.edu
Source
Hum Hered. 2009;67(3):193-205
Date
2009
Language
English
Publication Type
Article
Keywords
Adiposity - genetics
Adult
Alaska
Body Composition - genetics
Body mass index
Epistasis, Genetic
European Continental Ancestry Group - genetics
Female
Ghrelin - genetics
Haplotypes
Humans
Inuits - genetics
Male
Middle Aged
New York City
Phenotype
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Skinfold thickness
Waist Circumference - genetics
Abstract
Human adiposity is highly heritable, but few of the genes that predispose to obesity in most humans are known. We tested candidate genes in pathways related to food intake and energy expenditure for association with measures of adiposity.
We studied 355 genetic variants in 30 candidate genes in 7 molecular pathways related to obesity in two groups of adult subjects: 1,982 unrelated European Americans living in the New York metropolitan area drawn from the extremes of their body mass index (BMI) distribution and 593 related Yup'ik Eskimos living in rural Alaska characterized for BMI, body composition, waist circumference, and skin fold thicknesses. Data were analyzed by using a mixed model in conjunction with a false discovery rate (FDR) procedure to correct for multiple testing.
After correcting for multiple testing, two single nucleotide polymorphisms (SNPs) in Ghrelin (GHRL) (rs35682 and rs35683) were associated with BMI in the New York European Americans. This association was not replicated in the Yup'ik participants. There was no evidence for gene x gene interactions among genes within the same molecular pathway after adjusting for multiple testing via FDR control procedure.
Genetic variation in GHRL may have a modest impact on BMI in European Americans.
Notes
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PubMed ID
19077438 View in PubMed
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