Genomes and Genes
Caroline M Nievergelt
Affiliation: University of California
- Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospectsCaroline M Nievergelt
Department of Psychiatry, University of California, San Diego VA Center of Excellence for Stress and Mental Health, VA San Diego Electronic address
Gene 540:104-9. 2014..We find that the use of the HE is likely to be a cost-effective way of expanding GWAS, but does have some drawbacks that deserve consideration when planning studies. ..
- Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panelCaroline M Nievergelt
Department of Psychiatry, School of Medicine, University of San Diego California, La Jolla, CA, 92093, USA
Investig Genet 4:13. 2013..Here we report on the development, application and limitations of a small, multiplexable ancestry informative marker (AIM) panel of SNPs (or AISNP) developed specifically for this purpose...
- Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorderCaroline M Nievergelt
Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0603, USA
Am J Med Genet B Neuropsychiatr Genet 141:234-41. 2006..However, the trends for ARNTL and PER3 are suggestive of their involvement in bipolar disorder and warrant further study in a larger sample...
- Further evidence for linkage of bipolar disorder to chromosomes 6 and 17 in a new independent pedigree seriesTiffany A Greenwood
Department of Psychiatry, University of California, San Diego, CA, USA
Bipolar Disord 14:71-9. 2012..We now report the results of our genome-wide linkage analysis in an independent sample of 34 pedigrees segregating bipolar disorder...
- G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactionsVibha Bhatnagar
Deparment of Family and Preventive Medicine, University of California San Diego, La Jolla, California, USA
Am J Hypertens 22:332-8. 2009..This study explores the association between G-protein-coupled receptor kinase type 4 (GRK4) variants and blood pressure response to metoprolol among African Americans with early hypertensive nephrosclerosis...
- Integrated computational and experimental analysis of the neuroendocrine transcriptome in genetic hypertension identifies novel control points for the cardiometabolic syndromeRyan S Friese
Department of Bioengineering, University of California at San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093 0838, USA
Circ Cardiovasc Genet 5:430-40. 2012....
- Further evidence for association of GRK3 to bipolar disorder suggests a second disease mutationThomas B Barrett
Department of Psychiatry, University of California at San Diego, San Diego VA Healthcare System, San Diego, California 92093 0603, USA
Psychiatr Genet 17:315-22. 2007..This SNP, however, was too rare (allele frequency 0.007) to explain the evidence for linkage...
- Suggestive linkage of a chromosomal locus on 18p11 to cyclothymic temperament in bipolar disorder familiesLynn M Evans
Department of Psychiatry, Columbia University, New York, New York, USA
Am J Med Genet B Neuropsychiatr Genet 147:326-32. 2008..The temperament-based cyclothymic trait yielded a higher peak LOD score and a lower P-value than analyses using traditional, categorical phenotypes in a separate analysis including these same families...
- Dopamine D1 receptor (DRD1) genetic polymorphism: pleiotropic effects on heritable renal traitsMaple M Fung
Department of Medicine, Veterans Affairs San Diego Healthcare System and University of California at San Diego, La Jolla, California 92093 0838, USA
Kidney Int 76:1070-80. 2009..Because the -94A allele is common and may reduce glomerular capillary hydrostatic pressure, G-94A profiling may aid in predicting survival of renal function in patients with progressive renal disease...
- Comparison of genetic distance measures using human SNP genotype dataOndrej Libiger
Scripps Translational Science Institute, Scripps Health, and Scripps Research Institute, La Jolla, CA, USA
Hum Biol 81:389-406. 2009..Finally, our study suggests that using the Cavalli-Sforza and Edwards distance may provide less power for studies concerning human migration history...
- Paraoxonase 1 (PON1) C/T-108 association with longitudinal mean arterial blood pressureVibha Bhatnagar
Department of Family and Preventive Medicine, University of California San Diego, La Jolla, California, USA
Am J Hypertens 25:1188-94. 2012..In this study, we leveraged the Veterans Affairs electronic medical record system to explore the relationship between Paraoxonase 1 (PON1)-108 C/T (rs705379) and mean arterial blood pressure (MAP)...
- Adrenergic beta-1 receptor genetic variation predicts longitudinal rate of GFR decline in hypertensive nephrosclerosisMaple M Fung
Department of Medicine, University of California, San Diego, and San Diego Veterans Affairs Healthcare System, La Jolla, CA, USA
Nephrol Dial Transplant 24:3677-86. 2009..End-stage renal disease (ESRD) due to hypertension is common and displays familial aggregation in African Americans, suggesting genetic risk factors, including adrenergic activity alterations which are noted in both hypertension and ESRD...
- Angiotensin-converting enzyme gene polymorphism predicts the time-course of blood pressure response to angiotensin converting enzyme inhibition in the AASK trialVibha Bhatnagar
University of California San Diego, La Jolla, USA
J Hypertens 25:2082-92. 2007..It has yet to be determined whether genotyping at the angiotensin-converting enzyme (ACE) locus is predictive of blood pressure response to an ACE inhibitor...
- Genes and environment: novel, functional polymorphism in the human cathepsin L (CTSL1) promoter disrupts a xenobiotic response element (XRE) to alter transcription and blood pressureNzali Mbewe-Campbell
Department of Medicine, UCSD, San Deigo, CA, USA
J Hypertens 30:1961-9. 2012..Here, we searched for genetic variation across the human CTSL1 locus and probed its functional effects, especially in the proximal promoter...
- Autonomic and hemodynamic origins of pre-hypertension: central role of heredityJason T Davis
Department of Medicine, University of California San Diego, and V A San Diego Healthcare System, 9500 Gilman Drive, La Jolla, CA 92093, USA
J Am Coll Cardiol 59:2206-16. 2012..The purpose of this study is to better understand the origins and progression of pre-hypertension...
- Admixture mapping as a gene discovery approach for complex human traits and diseasesCaroline M Nievergelt
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, 2050 Basic Science Building, 9500 Gilman Drive, La Jolla, CA 92093 0603, USA
Curr Hypertens Rep 7:31-7. 2005..We conclude that AM has potential in the identification of disease-predisposing loci, but this potential may only exist in a limited number of realistic settings...
- Examination of the clock gene Cryptochrome 1 in bipolar disorder: mutational analysis and absence of evidence for linkage or associationCaroline M Nievergelt
Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA
Psychiatr Genet 15:45-52. 2005..Additional, more powerful, studies involving Cry1 and other circadian clock genes need to be tested before an association of circadian abnormalities with bipolar disorder can be excluded...
- FMR1, circadian genes and depression: suggestive associations or false discovery?Daniel F Kripke
Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093 0603, USA
J Circadian Rhythms 11:3. 2013..To search for particular circadian gene polymorphisms associated with depression, diverse polymorphisms were genotyped in two samples covering a range of depressed volunteers and participants with normal mood...
- Generalized analysis of molecular varianceCaroline M Nievergelt
Department of Psychiatry, University of California at San Diego, La Jolla, California, United States of America
PLoS Genet 3:e51. 2007....
- Characterization of cerebrospinal fluid (CSF) and plasma NPY levels in normal volunteers over a 24-h timeframeDewleen G Baker
VA Center of Excellence for Stress and Mental Health, San Diego, CA, United States University of California San Diego, San Diego, CA, United States VA San Diego Healthcare System, San Diego, CA, United States Electronic address
Psychoneuroendocrinology 38:2378-82. 2013..Using 24-h data collection, we characterized CSF/plasma NPY relationships, including presentation of evidence of weak CSF and plasma correlations, an important consideration for study design of NPY in stress or mental health. ..
- Circadian polymorphisms associated with affective disordersDaniel F Kripke
Department of Psychiatry 0939, University of California, San Diego, La Jolla, CA 92093 0939, USA
J Circadian Rhythms 7:2. 2009..Since genetic susceptibilities contribute a strong component to affective disorders, we explored whether circadian gene polymorphisms were associated with affective disorders in four complementary studies...
- Polymorphisms in melatonin synthesis pathways: possible influences on depressionDaniel F Kripke
Department of Psychiatry, University of California, San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA
J Circadian Rhythms 9:8. 2011..abstract:..
- Heritability and clinical features of multigenerational families with obsessive-compulsive disorder and hoardingCarol A Mathews
Department of Psychiatry, University of California, San Francisco, San Francisco, California 94143 0984, USA
Am J Med Genet B Neuropsychiatr Genet 144:174-82. 2007..39 for hoarding. We found reasonable power to detect regions of interest (lod = 2) for OCD in these families, but will need to expand our family collection to have adequate power to detect regions of interest for hoarding...
- Biomarkers of PTSD: neuropeptides and immune signalingDewleen G Baker
Veterans Affairs Center of Excellence for Stress and Mental Health, VA San Diego, CA, USA
Neuropharmacology 62:663-73. 2012..Potential research implications and directions are discussed. This article is part of a Special Issue entitled 'Post-Traumatic Stress Disorder'...
- Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki diseaseChisato Shimizu
Rady Children s Hospital and Departments of Pediatrics, UCSD School of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
J Hum Genet 55:779-84. 2010..The region encompassing these risk haplotypes is a prime candidate for resequencing to look for rare genetic variation that may influence aneurysm formation...
- Delayed sleep phase cases and controlsDaniel F Kripke
Department of Psychiatry, University of California, San Diego, La Jolla, California 92093 0667, USA
J Circadian Rhythms 6:6. 2008..Several studies have suggested that variations in habitual bedtime are 40-50% heritable...
- Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene diseaseMiguel L Soares
Department of Molecular and Experimental Medicine, Division of Rheumatology Research and the WM Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA 92037, USA
Hum Mol Genet 14:543-53. 2005..Thus, although the TTR V30M mutation is required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation...
- Large-scale integration of human genetic and physical mapsCaroline M Nievergelt
Polymorphism Research Laboratory, Department of Psychiatry, University of California at San Diego, La Jolla, California 92093 0603, USA
Genome Res 14:1199-205. 2004..Our efforts resulted in updated sex-specific genetic maps...
- Post-traumatic stress disorder: emerging concepts of pharmacotherapyDewleen G Baker
Department of Psychiatry, University of California San Diego, 9500 Gilman Drive 0603V, La Jolla, California 92093, USA
Expert Opin Emerg Drugs 14:251-72. 2009..Proven effective pharmacologic agents are sorely needed to treat core and targeted PTSD symptoms, and for prevention. This review describes current and emerging pharmacotherapies that advance these goals...