SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese

References

• Wu TY, Li WS, Wei LY, et al. A Preliminary Studies on the Diagnosis of Chronic Mountain Sickness in Tibetan Populations. Matsumoto: Press Committee of the 3rd World congress on Mountain Medicine and High Altitude Physiology; 1998.
   Google Scholar
• Leon-Velarde F, McCullough RG, McCullough RE, Reeves JT. Proposal for scoring severity in chronic mountain sickness (CMS). Background and conclusions of the CMS Working Group. Adv Exp Med Biol. 2003;543:339–354.
   PubMed Web of Science ®Google Scholar
• Sime F, Monge C, Whittembury J. Age as a cause of chronic mountain sickness (Monge’s disease). Int J Biometeorol. 1975;19(2):93–98.
   PubMed Web of Science ®Google Scholar
• Basang Z, Wang B, Li L, et al. HIF2A variants were associated with different levels of high-altitude hypoxia among native Tibetans. PLoS One. 2015;10(9):e0137956.
   PubMed Web of Science ®Google Scholar
• West JB. The physiologic basis of high-altitude diseases. Ann Intern Med. 2004;141(10):789–800.
   PubMed Web of Science ®Google Scholar
• Schoene RB. Illnesses at high altitude. Chest. 2008;134(2):402–416.
   PubMed Web of Science ®Google Scholar
• Strohl KP. Lessons in hypoxic adaptation from high-altitude populations. Sleep Breath. 2008;12(2):115–121.
   PubMed Web of Science ®Google Scholar
• Wilson MH, Newman S, Imray CH. The cerebral effects of ascent to high altitudes. Lancet Neurol. 2009;8(2):175–191.
   PubMed Web of Science ®Google Scholar
• Mejia OM, Prchal JT, Leon-Velarde F, Hurtado A, Stockton DW. Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. Haematologica. 2005;90(1):13–19.
   PubMed Web of Science ®Google Scholar
• Su B, Xiao J, Underhill P, et al. Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet. 1999;65(6):1718–1724.
   PubMed Web of Science ®Google Scholar
• Su B, Xiao C, Deka R, et al. Y chromosome haplotypes reveal prehistorical migrations to the Himalayas. Hum Genet. 2000;107(6):582–590.
   PubMed Web of Science ®Google Scholar
• Torroni A, Miller JA, Moore LG, et al. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol. 1994;93(2):189–199.
   PubMed Web of Science ®Google Scholar
• Du R, Xiao C, Cavalli-Sforza LL. Genetic distances between Chinese populations calculated on gene frequencies of 38 loci. Sci China C Life Sci. 1997;40(6):613–621.
   PubMedGoogle Scholar
• Welter D, MacArthur J, Morales J, et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 2014;42(Database issue):D1001–D1006.
   PubMed Web of Science ®Google Scholar
• Tak YG, Farnham PJ. Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. Epigenetics Chromatin. 2015;8:57.
   PubMed Web of Science ®Google Scholar
• Buroker NE, Ning XH, Zhou ZN, et al. VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. J Physiol Sci. 2013;63(3):183–193.
   PubMed Web of Science ®Google Scholar
• Buroker NE, Ning XH, Zhou ZN, et al. Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau. Clin Chim Acta. 2010;411(19–20):1466–1473.
   PubMed Web of Science ®Google Scholar
• Buroker NE, Ning XH, Zhou ZN, et al. AKT3, ANGPTL4, eNOS3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. Int J Hematol. 2012;96(2):200–213.
   PubMed Web of Science ®Google Scholar
• Buroker NE, Ning XH, Zhou ZN, et al. EPAS1 and EGLN1 associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. Blood Cells Mol Dis. 2012;49(2):67–73.
   PubMed Web of Science ®Google Scholar
• Buroker NE, Ning X-H, Li K, et al. SNPs, linkage disequilibrium and transcriptional factor binding sites associated with acute mountain sickness among Han Chinese at the Qinghai-Tibetan Plateau. Int J Genom Med. 2015;3(1):120.
   Google Scholar
• Buroker NE, Ning X-H, Zhou A-N, et al. SNPs amd TFBS associated with high altitude sickness. Open J Blood Dis. 2013;3:85–93.
   Google Scholar
• Ding K, Zhou K, He F, Shen Y. LDA – a java-based linkage disequilibrium analyzer. Bioinformatics. 2003;19(16):2147–2148.
   PubMed Web of Science ®Google Scholar
• Bruno AE, Li L, Kalabus JL, Pan Y, Yu A, Hu Z. miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3’UTRs of human genes. BMC Genomics. 2012;13:44.
   PubMed Web of Science ®Google Scholar
• Griffiths-Jones S. The microRNA Registry. Nucleic Acids Res. 2004;32(Database issue):D109–D111.
   PubMed Web of Science ®Google Scholar
• Griffiths-Jones S, Grocock RJ, van Dongen S, Bateman A, Enright AJ. miRBase: microRNA sequences, targets and gene nomenclature. Nucleic Acids Res. 2006;34(Database issue):D140–D144.
   PubMed Web of Science ®Google Scholar
• Griffiths-Jones S, Saini HK, van Dongen S, Enright AJ. miRBase: tools for microRNA genomics. Nucleic Acids Res. 2008;36(Database issue):D154–D158.
   PubMed Web of Science ®Google Scholar
• Kozomara A, Griffiths-Jones S. miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Res. 2011;39(Database issue):D152–D157.
   PubMed Web of Science ®Google Scholar
• Kozomara A, Griffiths-Jones S. miRBase: annotating high confidence microRNAs using deep sequencing data. Nucleic Acids Res. 2014;42(Database issue):D68–D73.
   PubMed Web of Science ®Google Scholar
• Pennisi E. The biology of genomes. disease risk links to gene regulation. Science. 2011;332(6033):1031.
   PubMedGoogle Scholar
• Kumar V, Wijmenga C, Withoff S. From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases. Semin Immunopathol. 2012;34(4):567–580.
   PubMed Web of Science ®Google Scholar
• Hindorff LA, Sethupathy P, Junkins HA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106(23):9362–9367.
   PubMed Web of Science ®Google Scholar
• Kumar V, Westra HJ, Karjalainen J, et al. Human disease-associated genetic variation impacts large intergenic non-coding RNA expression. PLoS Genet. 2013;9(1):e1003201.
   PubMed Web of Science ®Google Scholar
• Knight JC. Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation. Clin Sci (Lond). 2003;104(5):493–501.
   PubMed Web of Science ®Google Scholar
• Wang X, Tomso DJ, Liu X, Bell DA. Single nucleotide polymorphism in transcriptional regulatory regions and expression of environmentally responsive genes. Toxicol Appl Pharmacol. 2005;207(2 Suppl):84–90.
   PubMedGoogle Scholar
• Chorley BN, Wang X, Campbell MR, Pittman GS, Noureddine MA, Bell DA. Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies. Mutat Res. 2008;659(1–2):147–157.
   PubMed Web of Science ®Google Scholar
• Prokunina L, Alarcon-Riquelme ME. Regulatory SNPs in complex diseases: their identification and functional validation. Expert Rev Mol Med. 2004;6(10):1–15.
   PubMedGoogle Scholar
• Buckland PR. The importance and identification of regulatory polymorphisms and their mechanisms of action. Biochim Biophys Acta. 2006;1762(1):17–28.
   PubMed Web of Science ®Google Scholar
• Sadee W, Wang D, Papp AC, et al. Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. Clin Pharmacol Ther. 2011;89(3):355–365.
   PubMed Web of Science ®Google Scholar
• Buroker NE. Regulatory SNPs and transcriptional factor binding sites in ADRBK1, AKT3, ATF3, DIO2, TBXA2R and VEGFA. Transcription. 2014;5(4):e964559.
   PubMedGoogle Scholar
• Lewontin RC, Kojima K. The evolutionary dynamics of complex polymorphisms. Evolution. 1960;14(4):458–472.
   Web of Science ®Google Scholar
• Buroker NE. VEGFA rSNPs, transcriptional factor binding sites and human disease. J Physiol Sci. 2014;64(1):73–76.
   PubMed Web of Science ®Google Scholar
• Buroker NE. AKT3 rSNPs, transcritional factor binding sites and human disease. Open J Blood Dis. 2013;3:116–129.
   Google Scholar
• Buroker NE. ATF3 rSNPs, transcriptional factor binding sites and human etiology. Open J Genet. 2013;3:253–261.
   Google Scholar
• Buroker NE. ADRBK1 (GRK2) rSNPs, transcriptional factor binding sites and cardiovascular disease in the black population. J Cardiol Dis. 2014;2(1):62-67.
   Google Scholar
• Buroker NE. TBXA2R rSNPs, transcriptional factor binding sites and asthma in Asians. Open J Pediatrics. 2014;4:148–161.
   Google Scholar
• Buroker NE. ADRBD1 (GRK2), TBXA2R and VEGFA rSNPs in KLF4 and SP1 TFBS exhibit linkage disequilibrium. Open J Genet. 2014;4:183–189.
   Google Scholar
• Costerousse O, Allegrini J, Lopez M, Alhenc-Gelas F. Angiotensin I-converting enzyme in human circulating mononuclear cells: genetic polymorphism of expression in T-lymphocytes. Biochem J. 1993;290(Pt 1):33–40.
   PubMedGoogle Scholar
• Danser AH, Schalekamp MA, Bax WA, et al. Angiotensin-converting enzyme in the human heart. Effect of the deletion/insertion polymorphism. Circulation. 1995;92(6):1387–1388.
   PubMed Web of Science ®Google Scholar
• Zhu X, Bouzekri N, Southam L, et al. Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure. Am J Hum Genet. 2001;68(5):1139–1148.
   PubMed Web of Science ®Google Scholar
• Montgomery HE, Marshall R, Hemingway H, et al. Human gene for physical performance. Nature. 1998;393(6682):221–222.
   PubMed Web of Science ®Google Scholar
• Tsianos G, Eleftheriou KI, Hawe E, et al. Performance at altitude and angiotensin I-converting enzyme genotype. Eur J Appl Physiol. 2005;93(5–6):630–633.
   PubMed Web of Science ®Google Scholar
• Woods DR, Pollard AJ, Collier DJ, et al. Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude. Am J Respir Crit Care Med. 2002;166(3):362–366.
   PubMed Web of Science ®Google Scholar
• Qi Y, Niu W, Zhu T, Zhou W, Qiu C. Synergistic effect of the genetic polymorphisms of the renin-angiotensin-aldosterone system on high-altitude pulmonary edema: a study from Qinghai-Tibet altitude. Eur J Epidemiol. 2008;23(2):143–152.
   PubMed Web of Science ®Google Scholar
• Stobdan T, Ali Z, Khan AP, et al. Polymorphisms of renin--angiotensin system genes as a risk factor for high-altitude pulmonary oedema. J Renin Angiotensin Aldosterone Syst. 2011;12(2):93–101.
   PubMed Web of Science ®Google Scholar
• Liu Y, Zhuoma C, Shan G, et al. A1166C polymorphism of the angiotensin II type 1 receptor gene and essential hypertension in Han, Tibetan and Yi populations. Hypertens Res. 2002;25(4):515–521.
   PubMed Web of Science ®Google Scholar
• Jones A, Dhamrait SS, Payne JR, et al. Genetic variants of angiotensin II receptors and cardiovascular risk in hypertension. Hypertension. 2003;42(4):500–506.
   PubMed Web of Science ®Google Scholar
• Yan C, Zhan J, Feng W. Gene polymorphisms of angiotensin II type 1 receptor and angiotensin-converting enzyme in two ethnic groups living in Zhejiang Province, China. J Renin Angiotensin Aldosterone Syst. 2005;6(3):132–137.
   PubMed Web of Science ®Google Scholar
• Wu CK, Tsai CT, Chang YC, et al. Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure. J Hypertens. 2009;27(3):502–507.
   PubMed Web of Science ®Google Scholar
• Rodrigues AC, Sobrino B, Genvigir FD, et al. Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response. Clin Chim Acta. 2013;417:8–11.
   PubMed Web of Science ®Google Scholar
• Benn M, Stene MC, Nordestgaard BG, Jensen GB, Steffensen R, Tybjaerg-Hansen A. Common and rare alleles in apolipoprotein B contribute to plasma levels of low-density lipoprotein cholesterol in the general population. J Clin Endocrinol Metab. 2008;93(3):1038–1045.
   PubMed Web of Science ®Google Scholar
• Zhu H, Tucker HM, Grear KE, et al. A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol. Hum Mol Genet. 2007;16(14):1765–1772.
   PubMed Web of Science ®Google Scholar
• Besseling J, Kastelein JJ, Defesche JC, Hutten BA, Hovingh GK. Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus. JAMA. 2015;313(10):1029–1036.
   PubMed Web of Science ®Google Scholar
• Disterer P, Al-Shawi R, Ellmerich S, et al. Exon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivo. Mol Ther. 2013;21(3):602–609.
   PubMed Web of Science ®Google Scholar
• Corsetti JP, Gansevoort RT, Bakker SJ, Sparks CE, Vart P, Dullaart RP. Apolipoprotein B attenuates albuminuria-associated cardiovascular disease in prevention of renal and vascular endstage disease (PREVEND) participants. J Am Soc Nephrol. 2014;25(12):2906–2915.
   PubMed Web of Science ®Google Scholar
• Salvarani C, Boiardi L, Casali B, et al. Vascular endothelial growth factor gene polymorphisms in Behcet’s disease. J Rheumatol. 2004;31(9):1785–1789.
   PubMed Web of Science ®Google Scholar
• Kim DH, Lee NY, Lee MH, Sohn SK, Do YR, Park JY. Vascular endothelial growth factor (VEGF) gene (VEGFA) polymorphism can predict the prognosis in acute myeloid leukaemia patients. Br J Haematol. 2008;140(1):71–79.
   PubMed Web of Science ®Google Scholar
• Breunis WB, Biezeveld MH, Geissler J, et al. Vascular endothelial growth factor gene haplotypes in Kawasaki disease. Arthritis Rheum. 2006;54(5):1588–1594.
   PubMedGoogle Scholar
• Butt C, Lim S, Greenwood C, Rahman P. VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis. BMC Musculoskelet Disord. 2007;8:1.
   PubMed Web of Science ®Google Scholar
• Lin JM, Wan L, Tsai YY, et al. Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration. Am J Ophthalmol. 2008;145(6):1045–1051.
   PubMed Web of Science ®Google Scholar
• Heist RS, Zhai R, Liu G, et al. VEGF polymorphisms and survival in early-stage non-small-cell lung cancer. J Clin Oncol. 2008;26(6):856–862.
   PubMed Web of Science ®Google Scholar
• Lin GT, Tseng HF, Yang CH, et al. Combinational polymorphisms of seven CXCL12-related genes are protective against breast cancer in Taiwan. OMICS. 2009;13(2):165–172.
   PubMed Web of Science ®Google Scholar
• Mohammed Abdul KS, Jovanovic S, Du Q, Sukhodub A, Jovanovic A. Mild hypoxia in vivo regulates cardioprotective SUR2A: a role for Akt and LDH. Biochim Biophys Acta. 2015;1852(5):709–719.
   PubMed Web of Science ®Google Scholar
• Mohammed Abdul KS, Jovanovic S, Du Q, Sukhodub A, Jovanovic A. A link between ATP and SUR2A: a novel mechanism explaining cardioprotection at high altitude. Int J Cardiol. 2015;189:73–76.
   PubMed Web of Science ®Google Scholar
• Nelson PT, Jicha GA, Wang WX, et al. ABCC9/SUR2 in the brain: implications for hippocampal sclerosis of aging and a potential therapeutic target. Ageing Res Rev. 2015;24(Pt B):111–125.
   PubMedGoogle Scholar
• Allebrandt KV, Amin N, Muller-Myhsok B, et al. A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry. 2013;18(1):122–132.
   PubMed Web of Science ®Google Scholar
• Parsons MJ, Lester KJ, Barclay NL, Nolan PM, Eley TC, Gregory AM. Replication of Genome-Wide Association Studies (GWAS) loci for sleep in the British G1219 cohort. Am J Med Genet B Neuropsychiatr Genet. 2013;162B(5):431–438.
   PubMed Web of Science ®Google Scholar
• Nelson PT, Estus S, Abner EL, et al. ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta Neuropathol. 2014;127(6):825–843.
   PubMed Web of Science ®Google Scholar
• Nelson PT, Wang WX, Wilfred BR, et al. Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging. J Neurochem. 2015;134(6):1026–1039.
   PubMed Web of Science ®Google Scholar
• Sato N, Nakayama T, Asai S, Soma M. A haplotype in the human Sur2 gene is associated with essential hypertension. J Hum Hypertens. 2006; 20(1):87–90.
   PubMed Web of Science ®Google Scholar
• Kamide K, Asayama K, Katsuya T, et al. Genome-wide response to antihypertensive medication using home blood pressure measurements: a pilot study nested within the HOMED-BP study. Pharmacogenomics. 2013;14(14):1709–1721.
   PubMed Web of Science ®Google Scholar
• Kim JH, Cheong HS, Sul JH, et al. A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. PLoS One. 2014;9(10):e110292.
   Web of Science ®Google Scholar