Leslie Baier

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes
    Yunhua L Muller
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, 455 North 5th Street, Phoenix, AZ, 85004, USA
    Hum Genet 132:697-707. 2013
  2. pmc Human adipose microRNA-221 is upregulated in obesity and affects fat metabolism downstream of leptin and TNF-α
    A Meerson
    National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases, 445 North 5th Street, Phoenix, AZ, 85004, USA
    Diabetologia 56:1971-9. 2013
  3. pmc Bimodal distribution of RNA expression levels in human skeletal muscle tissue
    Clinton C Mason
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 1550 E, Indian School Rd, Phoenix, AZ 85014, USA
    BMC Genomics 12:98. 2011
  4. ncbi request reprint Positional cloning of an obesity/diabetes susceptibility gene(s) on chromosome 11 in Pima Indians
    Leslie Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    Ann N Y Acad Sci 967:258-64. 2002
  5. ncbi request reprint Genetic studies of the etiology of type 2 diabetes in Pima Indians: hunting for pieces to a complicated puzzle
    Leslie J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Diabetes 53:1181-6. 2004
  6. ncbi request reprint Variants in the Ca V 2.3 (alpha 1E) subunit of voltage-activated Ca2+ channels are associated with insulin resistance and type 2 diabetes in Pima Indians
    Yunhua Li Muller
    Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, 455 North 5th St, Phoenix, AZ 85004, USA
    Diabetes 56:3089-94. 2007
  7. pmc A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Phoenix, Arizona 85016, USA
    J Clin Invest 106:R69-73. 2000
  8. ncbi request reprint Mutations in the genes for hepatocyte nuclear factor (HNF)-1alpha, -4alpha, -1beta, and -3beta; the dimerization cofactor of HNF-1; and insulin promoter factor 1 are not common causes of early-onset type 2 diabetes in Pima Indians
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    Diabetes Care 23:302-4. 2000
  9. ncbi request reprint Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    J Clin Endocrinol Metab 83:2993-6. 1998
  10. ncbi request reprint A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians
    Yunhua Li Muller
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease NIH, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Diabetes 52:895-8. 2003

Collaborators

Detail Information

Publications45

  1. pmc Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes
    Yunhua L Muller
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, 455 North 5th Street, Phoenix, AZ, 85004, USA
    Hum Genet 132:697-707. 2013
    ..Alternatively, TREH variants may be tagging a nearby T2D locus...
  2. pmc Human adipose microRNA-221 is upregulated in obesity and affects fat metabolism downstream of leptin and TNF-α
    A Meerson
    National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases, 445 North 5th Street, Phoenix, AZ, 85004, USA
    Diabetologia 56:1971-9. 2013
    ..We sought to identify miRNAs that correlate with BMI and to elucidate their upstream regulation and downstream targets...
  3. pmc Bimodal distribution of RNA expression levels in human skeletal muscle tissue
    Clinton C Mason
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 1550 E, Indian School Rd, Phoenix, AZ 85014, USA
    BMC Genomics 12:98. 2011
    ....
  4. ncbi request reprint Positional cloning of an obesity/diabetes susceptibility gene(s) on chromosome 11 in Pima Indians
    Leslie Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    Ann N Y Acad Sci 967:258-64. 2002
    ..A region containing a cluster of SNPs strongly associated with BMI and a second region, approximately 2 Mb telomeric, containing a cluster of SNPs associated with diabetes have been preliminarily identified...
  5. ncbi request reprint Genetic studies of the etiology of type 2 diabetes in Pima Indians: hunting for pieces to a complicated puzzle
    Leslie J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Diabetes 53:1181-6. 2004
  6. ncbi request reprint Variants in the Ca V 2.3 (alpha 1E) subunit of voltage-activated Ca2+ channels are associated with insulin resistance and type 2 diabetes in Pima Indians
    Yunhua Li Muller
    Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, 455 North 5th St, Phoenix, AZ 85004, USA
    Diabetes 56:3089-94. 2007
    ..CACNA1E encodes the voltage-dependent calcium channel Ca(v)2.3 Ca(2+), and mice lacking this channel exhibit impaired glucose tolerance and insulin secretion. Therefore, CACNA1E was investigated as a positional candidate gene...
  7. pmc A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Phoenix, Arizona 85016, USA
    J Clin Invest 106:R69-73. 2000
    ..A decreased rate of insulin-mediated glucose turnover, or insulin resistance, is one mechanism by which the polymorphism in CAPN10 may increase susceptibility to type 2 diabetes mellitus in older persons...
  8. ncbi request reprint Mutations in the genes for hepatocyte nuclear factor (HNF)-1alpha, -4alpha, -1beta, and -3beta; the dimerization cofactor of HNF-1; and insulin promoter factor 1 are not common causes of early-onset type 2 diabetes in Pima Indians
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    Diabetes Care 23:302-4. 2000
    ..The purpose of this study was to determine whether alterations in known MODY genes and two MODY candidate genes contribute to the development of early-onset type 2 diabetes in Pima Indians...
  9. ncbi request reprint Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016, USA
    J Clin Endocrinol Metab 83:2993-6. 1998
    ..These variants in DBP were associated with differences in oral glucose tolerance in nondiabetic Pima Indians...
  10. ncbi request reprint A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians
    Yunhua Li Muller
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease NIH, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Diabetes 52:895-8. 2003
    ..These data indicate that the Gly482Ser missense polymorphism in PGC-1 has metabolic consequences on lipid metabolism that could influence insulin secretion...
  11. ncbi request reprint 11beta-Hydroxysteroid dehydrogenase Type 1: genetic polymorphisms are associated with Type 2 diabetes in Pima Indians independently of obesity and expression in adipocyte and muscle
    S Nair
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA
    Diabetologia 47:1088-95. 2004
    ..We have shown that adipose tissue 11beta-HSD1 mRNA levels were associated with adiposity and insulinaemia. Here we conducted further expression and genetic association studies in Pima Indians...
  12. ncbi request reprint Protein tyrosine phosphatase 1B is not a major susceptibility gene for type 2 diabetes mellitus or obesity among Pima Indians
    M Traurig
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ, USA
    Diabetologia 50:985-9. 2007
    ..In this study, we determined whether SNPs in PTPN1 also have a role in type 2 diabetes susceptibility in Pima Indians, a population with the world's highest reported prevalence and incidence rates of this disease...
  13. pmc Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima Indians
    L Bian
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th Street, Suite 210, Phoenix, AZ 85004, USA
    Diabetologia 53:1349-53. 2010
    ..Therefore, ACAD10 was analysed as a positional and biological candidate for type 2 diabetes...
  14. pmc An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance
    L J Baier
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Arizona 85016
    J Clin Invest 95:1281-7. 1995
    ..We conclude that the threonine-containing protein may increase absorption and/or processing of dietary fatty acids by the intestine and thereby increase fat oxidation, which has been shown to reduce insulin action...
  15. pmc Increased expression of inflammation-related genes in cultured preadipocytes/stromal vascular cells from obese compared with non-obese Pima Indians
    S Nair
    Obesity and Diabetes Clinical Research Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ 85016, USA
    Diabetologia 48:1784-8. 2005
    ..The aim of this study was to elucidate the potential role of adipocyte precursor cells (preadipocytes/stromal vascular cells [SVC])...
  16. ncbi request reprint Role of lipids in development of noninsulin-dependent diabetes mellitus: lessons learned from Pima Indians
    P A Tataranni
    National Institutes of Health, National Institute of Diabetes and Digestive Kidney Diseases, Clinical Diabetes and Nutrition Section, Phoenix, Arizona 85016, USA
    Lipids 31:S267-70. 1996
    ....
  17. ncbi request reprint Molecular and linkage analysis of type-1 protein phosphatase catalytic beta-subunit gene: lack of evidence for its major role in insulin resistance in Pima Indians
    M Prochazka
    Clinical Diabetes and Nutrition Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85016, USA
    Diabetologia 38:461-6. 1995
    ..Based on our data we conclude that the structural gene for the PP1 catalytic beta-subunit does not appear to be a major genetic determinant responsible for the PP1 abnormalities characteristic of insulin resistance in Pima Indians...
  18. ncbi request reprint Design and analysis of genetic association studies to finely map a locus identified by linkage analysis: sample size and power calculations
    R L Hanson
    Diabetes Epidemiology and Clinical Research Section, National Institute of Diabetes and Digestive and Kidney Diseases, 1550 East Indian School Road, Phoenix, Arizona, 85014, USA
    Ann Hum Genet 70:332-49. 2006
    ..These methods may be useful in the analysis and interpretation of fine-mapping studies...
  19. ncbi request reprint Reduced skeletal muscle calpain-10 transcript level is due to a cumulative decrease in major isoforms
    X Yang
    Clinical Diabetes and Nutrition Section, National Institute of Diabetes and Digestive and Kidney Diseases NIH, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Mol Genet Metab 73:111-3. 2001
    ..The expression levels of the major isoforms, calpain-10a and -10f, were positively correlated with the total calpain-10 mRNA levels, indicating a cumulative effect...
  20. ncbi request reprint Variation in the FABP2 promoter affects gene expression: implications for prior association studies
    M L Formanack
    Clinical Diabetes and Nutrition Section, NIDDK, NIH, Phoenix, AZ 85016, USA
    Diabetologia 47:349-51. 2004
    ..Ala54Thr functionally alters the protein's ability to bind and transport dietary fatty acids. In the current report, we sought additional functional variation in FABP2 by sequencing putative regulatory regions...
  21. ncbi request reprint Identification of susceptibility genes for complex metabolic diseases
    Clifton Bogardus
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85016, USA
    Ann N Y Acad Sci 967:1-6. 2002
    ..Nonetheless, genetic strategies have emerged that, when the technologies are fully developed, should allow similar success rates as for Mendelian diseases...
  22. ncbi request reprint A polymorphism in the human intestinal fatty acid binding protein alters fatty acid transport across Caco-2 cells
    L J Baier
    NIDDK, National Institutes of Health, Phoenix, Arizona 85016, USA
    J Biol Chem 271:10892-6. 1996
    ....
  23. ncbi request reprint Polymorphisms in the oxygen-regulated protein 150 gene (ORP150) are associated with insulin resistance in Pima Indians
    Peter Kovacs
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIDDK, National Institutes of Health, Phoenix, Arizona 85016, USA
    Diabetes 51:1618-21. 2002
    ..These data indicate that ORP150 has a role in insulin action but does not have a major role in determining susceptibility to type 2 diabetes in Pima Indians...
  24. pmc Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits
    Winston S Chu
    Division of Endocrinology 111J 1 LR, Department of Medicine, University of Arkansas for Medical Sciences, John L McClellan Memorial Veterans Hospital, 4700 W 7th Street, Little Rock, AR 72205, USA
    Diabetes 56:856-62. 2007
    ..ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance...
  25. ncbi request reprint Evidence that Rho guanine nucleotide exchange factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order Amish
    Mao Fu
    Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD 21201, USA
    Diabetes 56:1363-8. 2007
    ..These results, coupled with similar findings in Pima Indians, suggest that sequence variation in ARHGEF11 may influence risk of type 2 diabetes...
  26. ncbi request reprint A search for variants associated with young-onset type 2 diabetes in American Indians in a 100K genotyping array
    Robert L Hanson
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 550 E Indian School Rd, Phoenix, AZ 85014, USA
    Diabetes 56:3045-52. 2007
    ..To identify genetic variants in linkage disequilibrium with those conferring diabetes susceptibility, a genome-wide association study for young-onset diabetes was conducted in an American-Indian population...
  27. ncbi request reprint The insulin gene variable number tandem repeat class I/III polymorphism is in linkage disequilibrium with birth weight but not Type 2 diabetes in the Pima population
    Robert S Lindsay
    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85014, USA
    Diabetes 52:187-93. 2003
    ..Significant linkage disequilibrium was found between -23Hph1 and birth weight but not type 2 diabetes, an observation that supports a potential functional role of INS polymorphisms in the regulation of birth weight...
  28. ncbi request reprint TCF7L2 is not a major susceptibility gene for type 2 diabetes in Pima Indians: analysis of 3,501 individuals
    Tingwei Guo
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Diabetes and Digestive and Kidney Diseases, NIH, 445 North 5th St, Phoenix, AZ 85004, USA
    Diabetes 56:3082-8. 2007
    ..S. populations. We investigated whether TCF7L2 also has a role in type 2 diabetes susceptibility in Pima Indians...
  29. ncbi request reprint A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo
    Peter Kovacs
    Diabetes Molecular Genetics Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 North 5th Street, Phoenix, AZ 85004, USA
    Diabetes 55:1497-503. 2006
    ..05). We propose that the Tyr1306Cys substitution in LARG, through its differential activation of RhoA, increases insulin sensitivity in nondiabetic Pima Indians...
  30. pmc Association analysis of Krüppel-like factor 11 variants with type 2 diabetes in Pima Indians
    Lijun Ma
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes, Digestive and Kidney Diseases, NIH, Phoenix, Arizona 85004, USA
    J Clin Endocrinol Metab 93:3644-9. 2008
    ....
  31. ncbi request reprint Variants in ARHGEF11, a candidate gene for the linkage to type 2 diabetes on chromosome 1q, are nominally associated with insulin resistance and type 2 diabetes in Pima Indians
    Lijun Ma
    Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, AZ 85004, USA
    Diabetes 56:1454-9. 2007
    ..01). These findings suggest that variation within ARHGEF11 nominally increases risk of type 2 diabetes, possibly as a result of increased insulin resistance...
  32. ncbi request reprint CHRM3 gene variation is associated with decreased acute insulin secretion and increased risk for early-onset type 2 diabetes in Pima Indians
    Yan Guo
    Diabetes Molecular Genetics Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 445 N 5th St, Suite 210, Phoenix, AZ 85004, USA
    Diabetes 55:3625-9. 2006
    ..00006) and was also modestly associated with increased risk of early-onset type 2 diabetes (adjusted P = 0.02)...
  33. ncbi request reprint Differential expression of matrix metalloproteinase 3 (MMP3) in preadipocytes/stromal vascular cells from nonobese nondiabetic versus obese nondiabetic Pima Indians
    Michael T Traurig
    NIDDK, NIH, 445 North 5th St, Phoenix, AZ 85004, USA
    Diabetes 55:3160-5. 2006
    ....
  34. ncbi request reprint Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians
    Peter Kovacs
    Department of Health and Human Services, Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases NIH, 4212 N 16th Street, Phoenix, AZ 85016, USA
    Diabetes 52:1292-5. 2003
    ....
  35. ncbi request reprint Metabolic effects of the Gly1057Asp polymorphism in IRS-2 and interactions with obesity
    Norbert Stefan
    Clinical Diabetes and Nutrition Section, National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 N 16th Street, Room 5 41, Phoenix, AZ 85016, USA
    Diabetes 52:1544-50. 2003
    ....
  36. ncbi request reprint A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians
    Yunhua Li Muller
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Phoenix, Arizona 85016, USA
    Diabetes 52:1864-71. 2003
    ....
  37. ncbi request reprint The role of insulin receptor substrate-1 gene (IRS1) in type 2 diabetes in Pima Indians
    Peter Kovacs
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85016, USA
    Diabetes 52:3005-9. 2003
    ....
  38. ncbi request reprint Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22.3-23
    Irfan Vardarli
    5th Medical Department Nephrology Endocrinology Rheumatology, and Eye Clinic, University Hospital Mannheim ofthe University of Heidelberg, Mannheim, Germany
    Kidney Int 62:2176-83. 2002
    ..Epidemiological studies have suggested a genetic susceptibility to diabetic nephropathy. The aim of this study was to localize the gene(s) responsible for susceptibility to diabetic nephropathy...
  39. ncbi request reprint Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians
    Lijun Ma
    Clinical Diabetes and Nutrition Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Department of Health and Human Services, 4212 N 16th St, Phoenix, AZ 85016, USA
    Diabetes 53:2696-9. 2004
    ..We conclude that variations in MC4R may account for a small portion of obesity in Pima Indians, but they do not explain the overall high prevalence of obesity in this Native American population...
  40. pmc Variations in peptide YY and Y2 receptor genes are associated with severe obesity in Pima Indian men
    Lijun Ma
    Diabetes Molecular Genetics Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 4212 North 16th St, Phoenix, AZ 85016, USA
    Diabetes 54:1598-602. 2005
    ..001 and P = 0.002, respectively). Our data suggest that the PYY-Y2R pathway may influence body weight through a sex-specific mechanism, but this finding requires confirmation in other populations...
  41. pmc Variants in hepatocyte nuclear factor 4alpha are modestly associated with type 2 diabetes in Pima Indians
    Yunhua Li Muller
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Phoenix, AZ 85016, USA
    Diabetes 54:3035-9. 2005
    ..We conclude that variants in HNF4alpha do not appear to be major determinants for type 2 diabetes in Pima Indians; however, HNF4alpha may have a minor role in type 2 diabetes susceptibility within this Native American population...
  42. ncbi request reprint Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Diabetes 55:2541-8. 2006
    ..These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for the chromosome 1q linkage. They reveal only limited evidence for replication of USF1 effects on continuous metabolic traits...
  43. pmc The Gly482Ser genotype at the PPARGC1A gene and elevated blood pressure: a meta-analysis involving 13,949 individuals
    Karani Santhanakrishnan Vimaleswaran
    Department of Public Health and Clinical Medicine, Umea University Hospital, Umea, Sweden
    J Appl Physiol 105:1352-8. 2008
    ..41; DBP, P = 0.51). Our findings suggest that the PPARGC1A Ser482 allele may be associated with higher blood pressure, but this is only apparent in younger adults...
  44. ncbi request reprint Solution structure of human intestinal fatty acid binding protein with a naturally-occurring single amino acid substitution (A54T) that is associated with altered lipid metabolism
    Fengli Zhang
    Department of Physiology and Biophysics, Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Biochemistry 42:7339-47. 2003
    ..Structural details of this portal region will be discussed in view of the influence residue 54 exerts on the functional properties of human I-FABP...
  45. ncbi request reprint A novel missense substitution (Val1483Ile) in the fatty acid synthase gene (FAS) is associated with percentage of body fat and substrate oxidation rates in nondiabetic Pima Indians
    Peter Kovacs
    Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85016, USA
    Diabetes 53:1915-9. 2004
    ..Our findings indicate that the Val1483Ile substitution in FAS is protective against obesity in Pima Indians, an effect possibly explained by the role of this gene in the regulation of substrate oxidation...