Genomes and Genes
M Geoffrey Hayes
Affiliation: Northwestern University
- Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studiesM Geoffrey Hayes
Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Diabetes 62:3282-91. 2013..These results suggest that the genetic architecture underlying glucose metabolism may differ, in part, in pregnancy. ..
- Constitutively decreased TGFBR1 allelic expression is a common finding in colorectal cancer and is associated with three TGFBR1 SNPsBoris Pasche
Division of Hematology Oncology, The University of Alabama at Birmingham and UAB Comprehensive Cancer Center, Birmingham, AL 35203, USA
J Exp Clin Cancer Res 29:57. 2010..This phenotype was first observed in mice, then in lymphoblastoid cell lines from patients with microsatellite stable colorectal tumors...
- The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancyMargrit Urbanek
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America
PLoS ONE 7:e32958. 2012....
- The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association studyMargrit Urbanek
Division on Endocrinology, Metabolism and Molecular Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 22:3583-96. 2013..This region has previously been shown to be associated with birth weight in Europeans. The current study suggests that association of this locus with birth weight is secondary to an effect on fat as opposed to lean body mass...
- A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7qJayant M Pinto
Section of Otolaryngology Head and Neck Surgery, Department of Surgery, The University of Chicago, Chicago, Illinois 60637, USA
Laryngoscope 118:2067-72. 2008..Chronic rhinosinusitis (CRS) is an important public health problem with substantial impact on patient quality of life and health care costs. We hypothesized that genetic variation may be one factor that affects this disease...
- Genetic variation associated with circulating monocyte count in the eMERGE NetworkDavid R Crosslin
Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA
Hum Mol Genet 22:2119-27. 2013..68×10(-17), β = -0.23) at the integrin, alpha 4 gene on chromosome 2. The novel IRF8 results and further replications provide supporting evidence of genetic regions associated with monocyte count...
- Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndromeToshihide Kawai
Department of Medicine, The University of Chicago, Chicago, IL 60637, USA
Diabetes Res Clin Pract 86:186-92. 2009..59], P=0.022). It was also associated with increased LDL (P=0.007) and total cholesterol levels (P=0.042). These results suggest that genetic variation in PLIN may affect glucose and lipid metabolism in women both with and without PCOS...
- Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the IRachel M Freathy
Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
Diabetes 59:2682-9. 2010..We hypothesized that these variants are associated with quantitative measures of glycemia in pregnancy...
- Ethnic variation in allele distribution of the androgen receptor (AR) (CAG)n repeatChristine M Ackerman
Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, Feinberg School of Medicine, 303 E Chicago Ave, Chicago, IL 60611, USA
J Androl 33:210-5. 2012..Significant interethnic differences in the allele frequencies of the AR exon 1 (CAG)(n) polymorphism exist. Our results suggest that there may be potential ethnic differences in androgenic pathway activity and androgen sensitivity...
- Genetics of chronic rhinosinusitis: state of the field and directions forwardJoy Hsu
Division of Allergy Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL 60637, USA
J Allergy Clin Immunol 131:977-93, 993.e1-5. 2013....
- Genetic risk score for prediction of newborn adiposity and large-for-gestational-age birthReeti Chawla
Division of Pediatric Endocrinology, Ann and Robert H Lurie Children s Hospital of Chicago R C, Department of Preventive Medicine S E B, J R, A C R, L P L, D M S, Division of Endocrinology, Metabolism and Molecular Medicine L L A, M U, B E M, M G H, W L L, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611 and PhD cand S B, University of Washington, Seattle, Washington 355852
J Clin Endocrinol Metab 99:E2377-86. 2014..Macrosomic infants are at increased risk for adverse metabolic outcomes. Improving prediction of large-for-gestational-age (LGA) birth may help prevent these outcomes...
- Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association studyAbel N Kho
Northwestern University, Chicago, Illinois, USA
J Am Med Inform Assoc 19:212-8. 2012..The aim of this study was to identify type 2 diabetes (T2D) cases and controls for a GWAS, using data captured through routine clinical care across five institutions using different electronic medical record (EMR) systems...
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE NetworkDavid R Crosslin
Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
Hum Genet 131:639-52. 2012..Variants in this region have been reported to be associated with WBC, neutrophil count, and inflammatory diseases including asthma and Crohn's disease...
- A genome-wide screen for hyposmia susceptibility LociJayant M Pinto
Section of Otolaryngology Head and Neck Surgery, The University of Chicago, 5841 S Maryland Avenue, MC 1035, Chicago, IL 60637, USA
Chem Senses 33:319-29. 2008..0013). Although this signal meets the criteria for suggestive linkage only and will require replication, these results offer the strongest data to date on the effects of genetic variation on olfactory dysfunction...
- Insulin gene mutations as a cause of permanent neonatal diabetesJulie Støy
Department of Medicine, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
Proc Natl Acad Sci U S A 104:15040-4. 2007..One of the human mutations we report here is identical to that in the Akita mouse. The identification of insulin mutations as a cause of neonatal diabetes will facilitate the diagnosis and possibly, in time, treatment of this disorder...
- Practical challenges in integrating genomic data into the electronic health recordAbel N Kho
Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
Genet Med 15:772-8. 2013..Successful integration of genomic data may require significant redesign of existing electronic health record systems...
- Parent-of-origin effects on glucose homeostasis in polycystic ovary syndromeKristen Kobaly
Division of Endocrinology, Metabolism, and Molecular Medicine K K, P V, R K S, L A, J Y L, M G H, M U, A D, Department of Medicine, and Department of Preventive Medicine J L, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611 and Department of Obstetrics and Gynecology R S L, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033
J Clin Endocrinol Metab 99:2961-6. 2014..Polycystic ovary syndrome (PCOS) is a highly heritable complex trait. Parents of affected women have reproductive and metabolic phenotypes...
- Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studiesM Geoffrey Hayes
Department of Medicine, University of Chicago, 5841 S Maryland Ave, MC6091, Chicago, IL 60637, USA
Diabetes 56:3033-44. 2007..The objective of this study was to identify DNA polymorphisms associated with type 2 diabetes in a Mexican-American population...