Experts and Doctors on gene frequency in Los Angeles, California, United States


Locale: Los Angeles, California, United States
Topic: gene frequency

Top Publications

  1. Yang O, Lewis M, Reed E, Gjertson D, Kalilani Phiri L, Mkandawire J, et al. Human leukocyte antigen class I haplotypes of human immunodeficiency virus-1-infected persons on Likoma Island, Malawi. Hum Immunol. 2011;72:877-80 pubmed publisher
    ..This is the first reported significant dataset of HLA class I allelic frequencies in Malawians. ..
  2. Setiawan V, Doherty J, Shu X, Akbari M, Chen C, De Vivo I, et al. Two estrogen-related variants in CYP19A1 and endometrial cancer risk: a pooled analysis in the Epidemiology of Endometrial Cancer Consortium. Cancer Epidemiol Biomarkers Prev. 2009;18:242-7 pubmed publisher
    ..Our study provides evidence that CYP19A1 genetic variation influences susceptibility to endometrial cancer, particularly among older and obese women. ..
  3. Levinson R, Rajalingam R, Park M, Reed E, Gjertson D, Kappel P, et al. Human leukocyte antigen A29 subtypes associated with birdshot retinochoroidopathy. Am J Ophthalmol. 2004;138:631-4 pubmed
    ..HLA-A29 subtype testing is not required for the clinical evaluation of HLA-A29-positive patients with birdshot retinochoroidopathy. ..
  4. Bhardwaj U, Zhang Y, Blackburn W, McCabe L, McCabe E. Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens. Am J Hematol. 2002;71:56-8 pubmed
  5. Ketefian A, Jones M, Krauss R, Chen Y, Legro R, Azziz R, et al. Association study of androgen signaling pathway genes in polycystic ovary syndrome. Fertil Steril. 2016;105:467-73.e4 pubmed publisher
    ..The remaining genes studied do not seem to be major contributors to the development of PCOS. These findings warrant confirmation in future studies, and genes encoding other androgen pathway components remain to be studied. ..
  6. Alexander D, Novembre J, Lange K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res. 2009;19:1655-64 pubmed publisher
  7. Saechao C, Valles Ayoub Y, Esfandiarifard S, Haghighatgoo A, No D, Shook S, et al. Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. Genet Test Mol Biomarkers. 2010;14:157-62 pubmed publisher
    ..S615X and p.Y675H). Six of the nine are Caucasian, one patient is Taiwanese, one patient is Asian Indian, and one patient is of European descent. These findings further expand the clinical and genetic spectrum of IBM2...
  8. Wenten M, Li Y, Lin P, Gauderman W, Berhane K, Avol E, et al. In utero smoke exposure, glutathione S-transferase P1 haplotypes, and respiratory illness-related absence among schoolchildren. Pediatrics. 2009;123:1344-51 pubmed publisher
    ..The paradigm of loss of genetic protection among those exposed to tobacco smoke has clinical and public health implications that warrant broader consideration in research and practice. ..
  9. Wang J, Zeevi A, Webber S, Girnita D, Addonizio L, Selby R, et al. A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity. Pharmacogenet Genomics. 2007;17:283-90 pubmed
    ..This novel functional variant may be one of the factors contributing to the inter-individual difference of baseline inosine 5'-monophosphate dehydrogenase activity as well as drug efficacy and adverse events in transplant patients. ..

More Information


  1. Shringarpure S, Bustamante C, Lange K, Alexander D. Efficient analysis of large datasets and sex bias with ADMIXTURE. BMC Bioinformatics. 2016;17:218 pubmed publisher
    ..These modifications make ADMIXTURE more efficient and versatile, allowing users to extract more information from large genomic datasets. ..
  2. Yu R, Bonert V, Saporta I, Raffel L, Melmed S. Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas. J Clin Endocrinol Metab. 2006;91:5126-9 pubmed
    ..A synonymous polymorphism was found in a single patient with acromegaly. The three specific AIP germline mutations do not play an important role in pathogenesis of sporadic pituitary tumors in U.S. patients. ..
  3. Levinson R, Park M, Rikkers S, Reed E, Smith J, Martin T, et al. Strong associations between specific HLA-DQ and HLA-DR alleles and the tubulointerstitial nephritis and uveitis syndrome. Invest Ophthalmol Vis Sci. 2003;44:653-7 pubmed
  4. Sims R, van der Lee S, Naj A, Bellenguez C, Badarinarayan N, Jakobsdottir J, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017;49:1373-1384 pubmed publisher
    ..These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease. ..
  5. Alexander D, Lange K. Enhancements to the ADMIXTURE algorithm for individual ancestry estimation. BMC Bioinformatics. 2011;12:246 pubmed publisher
    ..Finally, by exploiting multiple processors, large datasets can be analyzed even more rapidly. The enhancements we have described make ADMIXTURE a more accurate, efficient, and versatile tool for ancestry estimation. ..
  6. Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly J, et al. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011;7:e1002079 pubmed publisher
  7. Sun R, Hu Z, Sottoriva A, Graham T, Harpak A, Ma Z, et al. Between-region genetic divergence reflects the mode and tempo of tumor evolution. Nat Genet. 2017;49:1015-1024 pubmed publisher
    ..Our findings have broad implications for how human tumors progress, how they accumulate intratumoral heterogeneity, and ultimately how they may be more effectively treated...
  8. London E, Berman S, Mohammadian P, Ritchie T, Mandelkern M, Susselman M, et al. Effect of the TaqIA polymorphism on ethanol response in the brain. Psychiatry Res. 2009;174:163-70 pubmed publisher
    ..Although these results require replication in a larger sample, alcohol-induced negative reinforcement may explain the greater risk for alcoholism associated with the A1 allele. ..
  9. Abreu M, Taylor K, Lin Y, Hang T, Gaiennie J, Landers C, et al. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease. Gastroenterology. 2002;123:679-88 pubmed
    ..In this description of a genotype/phenotype correlation in CD patients and NOD2 variants, data suggest that variation in this gene contributes to the occurrence of fibrostenotic CD of the small bowel. ..
  10. Murcray C, Lewinger J, Gauderman W. Gene-environment interaction in genome-wide association studies. Am J Epidemiol. 2009;169:219-26 pubmed publisher
    ..The procedure complements screening for marginal genetic effects and thus has the potential to uncover new genetic signals that have not been identified previously. ..
  11. Dubinsky M, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, et al. IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease. Inflamm Bowel Dis. 2007;13:511-5 pubmed
    ..Thus, the initial whole genome association study based on ileal CD in adults has been extended to the pediatric population and beyond small bowel CD. ..
  12. Danciger M, Hendrickson J, Lyon J, Toomes C, McHale J, Fishman G, et al. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Invest Ophthalmol Vis Sci. 2001;42:2458-65 pubmed
    ..However, only 2 loci for arCRD have been documented. This is the report of a third. ..
  13. Yoon S, Qin J, Glaser R, Jabs E, Wexler N, Sokol R, et al. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLoS Genet. 2009;5:e1000558 pubmed publisher
    ..This model, with other evidence, suggests that part of the increase in both the sperm data and the birth data is due to selection for mutated premeiotic cells. It is likely that a number of other genetic diseases have similar features. ..
  14. Wang Y, Adamczyk A, Shugart Y, Samuels J, Grados M, Greenberg B, et al. A screen of SLC1A1 for OCD-related alleles. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:675-679 pubmed publisher
    ..Further investigation of this variant is necessary to determine whether and how it is related to OCD. There was no other evidence of significant accumulation of deleterious coding mutations in SLC1A1 in the OCD cases. ..
  15. Bailey J, Goenjian A, Noble E, Walling D, Ritchie T, Goenjian H. PTSD and dopaminergic genes, DRD2 and DAT, in multigenerational families exposed to the Spitak earthquake. Psychiatry Res. 2010;178:507-10 pubmed publisher
    ..These findings contradict prior reports of positive associations between both DRD2 and DAT, and PTSD. ..
  16. Goodarzi M, Louwers Y, Taylor K, Jones M, Cui J, Kwon S, et al. Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome. Fertil Steril. 2011;95:1736-41.e1-11 pubmed publisher
    ..A pathway-based tagging SNP approach allowed us to identify novel INSR SNPs associated with PCOS, one of which confirmed association in a large replication cohort. ..
  17. Yik W, Steinberg S, Moser A, Moser H, Hacia J. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Hum Mutat. 2009;30:E467-80 pubmed publisher
    ..This information is beneficial for efforts aimed at establishing rapid and sensitive clinical diagnostics for PBD-ZSS patients and interpreting the results from these genetic tests...
  18. Rhie S, Coetzee S, Noushmehr H, Yan C, Kim J, Haiman C, et al. Comprehensive functional annotation of seventy-one breast cancer risk Loci. PLoS ONE. 2013;8:e63925 pubmed publisher
    ..Unbiased analyses of SNPs at BCa risk loci revealed new and overlooked mechanisms that may affect risk of the disease, thereby providing a valuable resource for follow-up studies. ..
  19. Levinson R, Martin T, Luo L, Ashouri E, Rosenbaum J, Smith J, et al. Killer cell immunoglobulin-like receptors in HLA-B27-associated acute anterior uveitis, with and without axial spondyloarthropathy. Invest Ophthalmol Vis Sci. 2010;51:1505-10 pubmed publisher
    ..To determine associations between polymorphic genes that encode KIRs and their HLA class I ligands in patients with HLA-B27-associated acute anterior uveitis (AAU), with and without axial spondyloarthropathy (axial SpA)...
  20. Lu A, Ogdie M, Jarvelin M, Moilanen I, Loo S, McCracken J, et al. Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1488-94 pubmed publisher
    ..01 for C-G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders. ..
  21. Goodarzi M, Jones M, Li X, Chua A, Garcia O, Chen Y, et al. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. J Med Genet. 2012;49:90-5 pubmed publisher
    ..The analysis of the LHCGR gene was not sufficiently powered to detect modest effects. ..
  22. Albert F, Treusch S, Shockley A, Bloom J, Kruglyak L. Genetics of single-cell protein abundance variation in large yeast populations. Nature. 2014;506:494-7 pubmed publisher
    ..The variants that underlie these hotspots have profound effects on the gene regulatory network and provide insights into genetic variation in cell physiology between yeast strains. ..
  23. Qin J, Calabrese P, Tiemann Boege I, Shinde D, Yoon S, Gelfand D, et al. The molecular anatomy of spontaneous germline mutations in human testes. PLoS Biol. 2007;5:e224 pubmed
    ..Studying the anatomical distribution of germline mutations can provide new insights into genetic disease and evolutionary change. ..
  24. Goodarzi M, Guo X, Taylor K, QuiƱones M, Samayoa C, Yang H, et al. Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans. Genet Med. 2003;5:322-7 pubmed
    ..91). This study outlines the haplotype structure of the LPL gene, illustrates the utility of haplotype-based analysis in association studies, and demonstrates the importance of defining haplotype frequencies for different ethnic groups. ..