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The Human Obesity Gene Map: The 2005 Update
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This is the last yearly update of the Human Obesity Gene Map; the initiators of the map have now terminated this project. This has been an easily accessible resource that lists all obesity-related genes and loci reported in the literature
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Rankinen T, Zuberi A, Chagnon YC, et al. The Human Obesity Gene Map: The 2005 Update. Obes Res 2006; 14:529-644. This is the last yearly update of the Human Obesity Gene Map; the initiators of the map have now terminated this project. This has been an easily accessible resource that lists all obesity-related genes and loci reported in the literature.
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Scuteri A, Sanna S, Chen W-M, et al. Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits. PLos Genetics 2007; 3:e115. This is the first large-scale high-density genome-wide association study for obesity, which identified FTO as an obesity susceptibility gene.
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Scuteri A, Sanna S, Chen W-M, et al. Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits. PLos Genetics 2007; 3:e115. This is the first large-scale high-density genome-wide association study for obesity, which identified FTO as an obesity susceptibility gene.
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10
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Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316:889-894. This is the first study that unequivocally established the association between the FTO gene and obesity through a genome-wide association study for type 2 diabetes.
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Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007; 316:889-894. This is the first study that unequivocally established the association between the FTO gene and obesity through a genome-wide association study for type 2 diabetes.
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Xiang Z, Litherland SA, Sorensen NB, et al. Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous propriomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. Biochemistry 2006; 45:7277-7288.
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Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys
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Young EH, Wareham NJ, Farooqi S, et al. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29,563 individuals. Int J Obes 2007; 31:1437-1441. This study reports on a meta-analysis of the V103 MC4R variant and provides conclusive evidence for the association between this polymorphismand obesity risk.
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Young EH, Wareham NJ, Farooqi S, et al. The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29,563 individuals. Int J Obes 2007; 31:1437-1441. This study reports on a meta-analysis of the V103 MC4R variant and provides conclusive evidence for the association between this polymorphismand obesity risk.
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Stutzmann F, Vatin V, Cauchi S, et al. Nonsynonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet 2007; 16:1837-1844. This is a large-scale study that provides conclusive evidence for the association between the V103I and I251L polymorphisms in MC4R and obesity risk.
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Stutzmann F, Vatin V, Cauchi S, et al. Nonsynonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet 2007; 16:1837-1844. This is a large-scale study that provides conclusive evidence for the association between the V103I and I251L polymorphisms in MC4R and obesity risk.
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Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes
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Meyre D, Bouatia-Naji N, Tounian A, et al. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 2005; 37:863-867.
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ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children
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Bottcher Y, Korner A, Reinehr T, et al. ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. J Clin Endocrinol Metab 2006; 91:4948-4952.
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Meyre D, Bouatia-Naji N, Vatin V, et al. ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study. Diabetologia 2007; 50:2090-2096. This is a large-scale study (more than 5000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Meyre D, Bouatia-Naji N, Vatin V, et al. ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study. Diabetologia 2007; 50:2090-2096. This is a large-scale study (more than 5000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Weedon MN, Shields B, Hitman G, et al. No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians. Diabetes 2006; 55:3175-3179. This is a second large-scale study (more than 8000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Weedon MN, Shields B, Hitman G, et al. No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians. Diabetes 2006; 55:3175-3179. This is a second large-scale study (more than 8000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Lyon HN, Florez JC, Bersaglieri T, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes 2006; 55:3180-3184. This is a third large-scale study (more than 8000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Lyon HN, Florez JC, Bersaglieri T, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes 2006; 55:3180-3184. This is a third large-scale study (more than 8000 men and women) that refutes the association between the ENPP1 K121Q polymorphism and obesity.
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Qi L, Zhang C, van Dam RM, et al. Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. J Clin Endocrinol Metab 2007; 92:3618-3625. This meta-analysis includes almost 30 000 individuals, but it found no association between the -174C→G IL6 variant and obesity.
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Qi L, Zhang C, van Dam RM, et al. Interleukin-6 genetic variability and adiposity: associations in two prospective cohorts and systematic review in 26,944 individuals. J Clin Endocrinol Metab 2007; 92:3618-3625. This meta-analysis includes almost 30 000 individuals, but it found no association between the -174C→G IL6 variant and obesity.
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Variants in the 5′ region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects
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Torekov S, Larsen L, Andersen G, et al. Variants in the 5′ region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects. Diabetologia 2006; 49:2653-2658.
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Torekov, S.1
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Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: A possible role for NPY2R as a candidate gene for type 2 diabetes in men
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Campbell CD, Lyon HN, Nemesh J, et al. Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men. Diabetes 2007; 56:1460-1467.
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Campbell, C.D.1
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Genomewide search for genes influencing percentage body fat in Pima Indians: Suggestive linkage at chromosome 11q21-q22
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Norman A, Thompson DB, Foroud T, et al. Genomewide search for genes influencing percentage body fat in Pima Indians: Suggestive linkage at chromosome 11q21-q22. Am J Hum Genet 1997; 60:166-173.
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Saunders CL, Chiodini BD, Sham P, et al. Meta-analysis of genome-wide linkage studies in BMI and obesity. Obesity 2007; 15:2263-2275. The first large-scale meta-analyses 37 genome-wide linkage studies, including more than 31 000 individuals from more than 10 000 families. None of the QTLs, however, exhibited convincing evidence for linkage with obesity.
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Saunders CL, Chiodini BD, Sham P, et al. Meta-analysis of genome-wide linkage studies in BMI and obesity. Obesity 2007; 15:2263-2275. The first large-scale meta-analyses 37 genome-wide linkage studies, including more than 31 000 individuals from more than 10 000 families. None of the QTLs, however, exhibited convincing evidence for linkage with obesity.
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27
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A physical map of the human genome
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The International Human Genome Mapping Consortium. A physical map of the human genome. Nature 2001; 409:934-941.
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The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449:851-861. This paper reports on the characteristics of the second phase of the International HapMap Project.
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The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007; 449:851-861. This paper reports on the characteristics of the second phase of the International HapMap Project.
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Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation
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This study evaluateshow much of the genetic variation of the International HapMap is captured by commercially available SNPchips for genome-wide association studies
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Magi R, Pfeufer A, Nelis M, et al. Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation. BMC Genomics 2007; 8:159. This study evaluateshow much of the genetic variation of the International HapMap is captured by commercially available SNPchips for genome-wide association studies.
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BMC Genomics
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Magi, R.1
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34249777814
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Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007; 39:724-726. The study identified FTO as an obesity gene by serendipity while testing for population stratification.
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Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007; 39:724-726. The study identified FTO as an obesity gene by serendipity while testing for population stratification.
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Gerken T, Girard CA, Tung YCL, et al. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science 2007; 318:1469-1472. This is a follow-up study on the function of FTO; bioinformatics analyses and experiments in mice showed that FTO has DNA demythelation activity, is expressed in the hypothalamus of mice and is regulated by fasting and feeding.
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Gerken T, Girard CA, Tung YCL, et al. The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science 2007; 318:1469-1472. This is a follow-up study on the function of FTO; bioinformatics analyses and experiments in mice showed that FTO has DNA demythelation activity, is expressed in the hypothalamus of mice and is regulated by fasting and feeding.
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32
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The FTO (fat mass and obesity associated) gene codes for a novel member of the nonheme dioxygenase superfamily
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This is a follow-up study on the function of FTO; bioinformatics analyses showed that FTO is a member of the nonheme dioxygenase superfamily
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Sanchez-Pulido L, Andrade-Navarro MA. The FTO (fat mass and obesity associated) gene codes for a novel member of the nonheme dioxygenase superfamily. BMC Biochem 2007; 8:23. This is a follow-up study on the function of FTO; bioinformatics analyses showed that FTO is a member of the nonheme dioxygenase superfamily.
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(2007)
BMC Biochem
, vol.8
, pp. 23
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Sanchez-Pulido, L.1
Andrade-Navarro, M.A.2
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Variation in the FTO gene locus is associated with cerebrocortical insulin resistance in humans
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This is a follow-up study on the function of FTO; this study suggests that FTO may confer obesity through cerebrocortical insulin resistance in humans
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Tschritter O, Preissl H, Yokoyama Y, et al. Variation in the FTO gene locus is associated with cerebrocortical insulin resistance in humans. Diabetologia 2007; 50:2602-2603. This is a follow-up study on the function of FTO; this study suggests that FTO may confer obesity through cerebrocortical insulin resistance in humans.
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(2007)
Diabetologia
, vol.50
, pp. 2602-2603
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Tschritter, O.1
Preissl, H.2
Yokoyama, Y.3
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Wahlen K, Sjolin E, Hoffstedt J. The common rs9939609 gene variant of the fat mass and obesity associated gene (FTO) is related to fat cell lipolysis. J Lipid Res 2007; M700448-M701200. This is a follow-up study on the function of FTO; it suggests that FTO may confer obesity through a reduced lipolytic activity in women.
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Wahlen K, Sjolin E, Hoffstedt J. The common rs9939609 gene variant of the fat mass and obesity associated gene (FTO) is related to fat cell lipolysis. J Lipid Res 2007; M700448-M701200. This is a follow-up study on the function of FTO; it suggests that FTO may confer obesity through a reduced lipolytic activity in women.
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Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation
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This is a follow-up study on FTO regarding its interaction with environmental factors; it suggests that the risk associated with FTO is attenuated in physically active individuals
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Andreasen CH, Stender-Petersen KL, Mogensen MS, et al. Low physical activity accentuates the effect of the FTO rs9939609 polymorphism on body fat accumulation. Diabetes 2008; 95-101. This is a follow-up study on FTO regarding its interaction with environmental factors; it suggests that the risk associated with FTO is attenuated in physically active individuals.
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(2008)
Diabetes
, pp. 95-101
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Andreasen, C.H.1
Stender-Petersen, K.L.2
Mogensen, M.S.3
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Li H, Wu Y, Loos RJF, et al. Variants in the fat mass- and obesity-associated (FTO) gene are not associated with obesity in a Chinese Han population. Diabetes 2008; 57:264-268. This is a follow-up study on FTO regarding its role in different ethnicities; it shows no significant association in Chinese Hans, despite being sufficiently powered to detect previously identified effect sizes.
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Li H, Wu Y, Loos RJF, et al. Variants in the fat mass- and obesity-associated (FTO) gene are not associated with obesity in a Chinese Han population. Diabetes 2008; 57:264-268. This is a follow-up study on FTO regarding its role in different ethnicities; it shows no significant association in Chinese Hans, despite being sufficiently powered to detect previously identified effect sizes.
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33645825830
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Herbert A, Gerry NP, McQueen MB, et al. A common genetic variant is associated with adult and childhood obesity. Science 2006; 312:279-283. This is the first genome-wide association study for BMI using a 100K SNP chip in a small sample from the Framingham Heart Study. A SNP at about 10 kilobases upstream from the INSIG2 gene was identified and replicated in four independent samples.
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Herbert A, Gerry NP, McQueen MB, et al. A common genetic variant is associated with adult and childhood obesity. Science 2006; 312:279-283. This is the first genome-wide association study for BMI using a 100K SNP chip in a small sample from the Framingham Heart Study. A SNP at about 10 kilobases upstream from the INSIG2 gene was identified and replicated in four independent samples.
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Loos RJF, Barroso I, O'Rahilly S, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187. This is a first follow-up report on the INSIG2 variant; the study found no association between INSIG2 variants and BMI or obesity in more than 6000 individuals.
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Loos RJF, Barroso I, O'Rahilly S, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187. This is a first follow-up report on the INSIG2 variant; the study found no association between INSIG2 variants and BMI or obesity in more than 6000 individuals.
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Dina C, Meyre D, Samson C, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187. This is a second follow-up report on the INSIG2 variant; the study found no association between the INSIG2 variants and BMI or obesity in more than 10 000 individuals.
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Dina C, Meyre D, Samson C, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187. This is a second follow-up report on the INSIG2 variant; the study found no association between the INSIG2 variants and BMI or obesity in more than 10 000 individuals.
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Rosskopf D, Bornhorst A, Rimmbach C, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187d. This is a third follow-up report on the INSIG2 variant; the study found no association between the INSIG2 variants and BMI or obesity in more than 4,000 individuals.
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Rosskopf D, Bornhorst A, Rimmbach C, et al. Comment on 'a common genetic variant is associated with adult and childhood obesity'. Science 2007; 315:187d. This is a third follow-up report on the INSIG2 variant; the study found no association between the INSIG2 variants and BMI or obesity in more than 4,000 individuals.
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34247576412
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Lyon HN, Emilsson V, Hinney A, et al. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. PLos Genet 2007; 3:e61. This is a fourth follow-up report on the INSIG2 variant. Significant association between the INSIG2 variants and BMI or obesity was found in five studies examined in this report, whereas no association was observed in three other studies.
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Lyon HN, Emilsson V, Hinney A, et al. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. PLos Genet 2007; 3:e61. This is a fourth follow-up report on the INSIG2 variant. Significant association between the INSIG2 variants and BMI or obesity was found in five studies examined in this report, whereas no association was observed in three other studies.
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42
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41649089967
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Evidence of an influence of a polymorphism near the INSIG2 on weight loss during a lifestyle intervention in obese children and adolescents
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Epub ahead of print
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Reinehr T, Hinney A, Nguyen TT et al. Evidence of an influence of a polymorphism near the INSIG2 on weight loss during a lifestyle intervention in obese children and adolescents. Diabetes 2007 [Epub ahead of print].
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(2007)
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Reinehr, T.1
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INSIG-2 promoter polymorphism and obesity related phenotypes: Association study in 1428 members of 248 families
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Hall D, Rahman T, Avery P, et al. INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families. BMC Med Genet 2006; 7:83.
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INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects
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Smith AJP, Cooper JA, Li LK, et al. INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects. Int J Obes 2007; 31:1753-1755.
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The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population
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Kumar J, Sunkishala RR, Karthikeyan G, et al. The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population. Clin Genet 2007; 71:415-418.
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Fox C, Heard-Costa N, Cupples LA, et al. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. BMC Med Genet 2007; 8:S18. This is a report on an extended genome-wide scan in the Framingham Heart study, now in more than 1,300 individuals, using a 100K SNP chip. No replication was performed. The data from this study are publicly available on a website (http://www.ncbi.nlm.nih.gov/projects/gap/cgi- bin/study.cgi?id=phs000007).
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Fox C, Heard-Costa N, Cupples LA, et al. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. BMC Med Genet 2007; 8:S18. This is a report on an extended genome-wide scan in the Framingham Heart study, now in more than 1,300 individuals, using a 100K SNP chip. No replication was performed. The data from this study are publicly available on a website (http://www.ncbi.nlm.nih.gov/projects/gap/cgi- bin/study.cgi?id=phs000007).
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47
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36248986199
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Association of single-nucleotide polymorphisms in MTMR9 gene with obesity
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This study on a genome-wide gene-based chip identifies variations in MTMR9 to be consistently associated with obesity risk in Japanese
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Yanagiya T, Tanabe A, Iida A, et al. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity. Hum Mol Genet 2007; 16:3017-3026. This study on a genome-wide gene-based chip identifies variations in MTMR9 to be consistently associated with obesity risk in Japanese.
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Hum Mol Genet
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Yanagiya, T.1
Tanabe, A.2
Iida, A.3
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48
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84969213492
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Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls
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Wellcome Trust Case Control Consortium
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Wellcome Trust Case Control Consortium: Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447:661-678.
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(2007)
Nature
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49
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A new multipoint method for genome-wide association studies by imputation of genotypes
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This study reports on a new method called imputation that determines individuals' genotypes for unobserved variants based the genotypes variants and on the haplotype structure from the HapMap
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Marchini J, Howie B, Myers S, et al. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39:906-913. This study reports on a new method called imputation that determines individuals' genotypes for unobserved variants based the genotypes variants and on the haplotype structure from the HapMap.
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(2007)
Nat Genet
, vol.39
, pp. 906-913
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Marchini, J.1
Howie, B.2
Myers, S.3
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50
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34250305146
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
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This study reports on a pilot project of the ENCODE Project Consortium that aims to determine the functional characteristics of each base pair of the human genome through various functional studies. Thus far, the pilot project comprises 1% of the human genome. The ENCODE Project Consortium
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The ENCODE Project Consortium. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447: 799-816. This study reports on a pilot project of the ENCODE Project Consortium that aims to determine the functional characteristics of each base pair of the human genome through various functional studies. Thus far, the pilot project comprises 1% of the human genome.
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(2007)
Nature
, vol.447
, pp. 799-816
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51
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34548805282
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Dixon AL, Liang L, Moffatt MF, et al. A genome-wide association study of global gene expression. Nat Genet 2007; 39:1202-1207. This is the first study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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Dixon AL, Liang L, Moffatt MF, et al. A genome-wide association study of global gene expression. Nat Genet 2007; 39:1202-1207. This is the first study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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52
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34548738566
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Stranger BE, Nica AC, Forrest MS, et al. Population genomics of human gene expression. Nat Genet 2007; 39:1217-1224. This is the second study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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Stranger BE, Nica AC, Forrest MS, et al. Population genomics of human gene expression. Nat Genet 2007; 39:1217-1224. This is the second study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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53
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34548719076
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Goring HHH, Curran JE, Johnson MP, et al. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 2007; 39:1208-1216. The third study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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Goring HHH, Curran JE, Johnson MP, et al. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 2007; 39:1208-1216. The third study that explored genome-wide gene expression. The data are publicly available. This study also provides useful software that allows searching of the dataset.
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