title: Genetic and environmental factors influencing human diseases with telomere dysfunction.
abstract: Both genetic and environmental factors have been implicated in the mechanism underlying the pathogenesis of serious and fatal forms of human blood disorder (acquired aplastic anemia, AA) and lung disease (idiopathic pulmonary fibrosis, IPF). We and other researchers have recently shown that naturally occurring mutations in genes encoding the telomere maintenance complex (telomerase) may predispose patients to the development of AA or IPF. Epidemiological data have shown that environmental factors can also cause and/or exacerbate the pathogenesis of these diseases. The exact mechanisms that these germ-line mutations in telomere maintenance genes coupled with environmental insults lead to ineffective hematopoiesis in AA and lung scarring in IPF are not well understood, however. In this article, we provide a summary of evidence for environmental and genetic factors influencing the diseases. These studies provide important insights into the interplay between environmental and genetic factors leading to human diseases with telomere dysfunction.
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University Atlanta, GA 30322, USA.
authors.forename: Hinh
authors.initials: H
authors.lastname: Ly
references.citation: J Pediatr Hematol Oncol. 2006 Jul;28(7):450-3
references.pmid: 16825992
references.citation: Blood. 2006 Apr 1;107(7):2680-5
references.pmid: 16332973
references.citation: Mol Cell Biol. 2000 May;20(9):3037-48
references.pmid: 10757788
references.citation: J Med Genet. 1975 Dec;12(4):339-54
references.pmid: 768476
references.citation: Chem Rev. 1998 May 7;98(3):1109-1152
references.pmid: 11848927
references.citation: Oncogene. 2001 Jun 14;20(27):3541-52
references.pmid: 11429701
references.citation: Science. 1947 Oct 31;106(2757):417
references.pmid: 17737966
references.citation: Arch Toxicol. 1995;69(3):141-8
references.pmid: 7717869
references.citation: Br J Haematol. 1998 Oct;103(1):243-8
references.pmid: 9792316
references.citation: J Cell Biol. 2004 Mar 1;164(5):647-52
references.pmid: 14981093
references.citation: Biochemistry. 2001 Apr 17;40(15):4763-8
references.pmid: 11294644
references.citation: Exp Cell Res. 1998 Feb 25;239(1):152-60
references.pmid: 9511733
references.citation: Leuk Lymphoma. 1996 Apr;21(3-4):217-23
references.pmid: 8726402
references.citation: Aging Cell. 2002 Oct;1(1):40-6
references.pmid: 12882352
references.citation: Lancet. 2001 Aug 11;358(9280):472-3
references.pmid: 11513915
references.citation: Atherosclerosis. 2000 Oct;152(2):391-8
references.pmid: 10998467
references.citation: J Med Genet. 1996 Dec;33(12):993-5
references.pmid: 9004129
references.citation: Am J Respir Crit Care Med. 1997 Jan;155(1):242-8
references.pmid: 9001319
references.citation: Proc Natl Acad Sci U S A. 1981 Nov;78(11):7124-8
references.pmid: 6947277
references.citation: Lancet. 2003 Nov 15;362(9396):1628-30
references.pmid: 14630445
references.citation: J Biol Chem. 2003 Feb 7;278(6):3882-90
references.pmid: 12458198
references.citation: Blood. 2008 Nov 1;112(9):3594-600
references.pmid: 18669893
references.citation: Toxicol Lett. 1991 Apr;56(1-2):159-66
references.pmid: 2017773
references.citation: Bone Marrow Transplant. 1999 Feb;23(3):299-301
references.pmid: 10084264
references.citation: Mol Cell Biol. 1999 Jan;19(1):567-76
references.pmid: 9858580
references.citation: Cell. 2001 Sep 21;106(6):661-73
references.pmid: 11572773
references.citation: Nat Genet. 1998 May;19(1):32-8
references.pmid: 9590285
references.citation: Environ Health Perspect. 1989 Jul;82:23-9
references.pmid: 2551665
references.citation: Hum Exp Toxicol. 2007 Sep;26(9):677-85
references.pmid: 17984138
references.citation: Mol Cells. 2002 Jun 30;13(3):351-61
references.pmid: 12132573
references.citation: Bone Marrow Transplant. 1997 Feb;19(4):389-92
references.pmid: 9051251
references.citation: Science. 1995 Sep 1;269(5228):1267-70
references.pmid: 7544492
references.citation: Nature. 2001 Sep 27;413(6854):432-5
references.pmid: 11574891
references.citation: Eur J Cancer. 1997 Apr;33(5):787-91
references.pmid: 9282118
references.citation: Science. 1998 Jan 16;279(5349):349-52
references.pmid: 9454332
references.citation: Curr Biol. 1998 Feb 26;8(5):279-82
references.pmid: 9501072
references.citation: Mol Cell Biol. 2003 Dec;23(23):8440-9
references.pmid: 14612390
references.citation: Clin Chim Acta. 2006 Dec;374(1-2):176-7
references.pmid: 16935276
references.citation: Trends Biochem Sci. 2002 Nov;27(11):572-9
references.pmid: 12417133
references.citation: Haematologica. 2007 Aug;92(8):1013-20
references.pmid: 17640862
references.citation: Exp Cell Res. 1995 Sep;220(1):186-93
references.pmid: 7664835
references.citation: Int J Biochem Cell Biol. 2007;39(1):44-84
references.pmid: 16978905
references.citation: Nat Biotechnol. 2004 Mar;22(3):297-305
references.pmid: 14990951
references.citation: Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4
references.pmid: 16247010
references.citation: Blood. 1991 Aug 15;78(4):938-44
references.pmid: 1868253
references.citation: Science. 1994 Oct 21;266(5184):404-9
references.pmid: 7545955
references.citation: Cancer Res. 2003 Sep 1;63(17):5414-9
references.pmid: 14500376
references.citation: Mol Cell Biol. 2004 Aug;24(16):7024-31
references.pmid: 15282303
references.citation: Hum Genet. 2001 Apr;108(4):299-303
references.pmid: 11379875
references.citation: J Theor Biol. 1973 Sep 14;41(1):181-90
references.pmid: 4754905
references.citation: Curr Biol. 2000 Nov 16;10(22):1459-62
references.pmid: 11102810
references.citation: Curr Opin Cell Biol. 2002 Jun;14(3):319-27
references.pmid: 12067654
references.citation: Cell. 2005 Feb 25;120(4):497-512
references.pmid: 15734682
references.citation: Genes Cells. 1999 Oct;4(10):563-72
references.pmid: 10583505
references.citation: Life Sci. 2001 Aug 10;69(12):1373-9
references.pmid: 11531161
references.citation: Am J Gastroenterol. 2000 Sep;95(9):2301-7
references.pmid: 11007232
references.citation: J Exp Med. 2006 Dec 25;203(13):2895-906
references.pmid: 17178917
references.citation: Exp Gerontol. 1992 Jul-Aug;27(4):375-82
references.pmid: 1459213
references.citation: Environ Health Perspect. 1996 Dec;104 Suppl 6:1129-36
references.pmid: 9118882
references.citation: Mol Cell. 2003 May;11(5):1361-72
references.pmid: 12769858
references.citation: J Gastroenterol. 1998 Jun;33(3):343-8
references.pmid: 9658312
references.citation: Free Radic Biol Med. 1991;11(5):495-515
references.pmid: 1769608
references.citation: Exp Cell Res. 1965 Mar;37:614-36
references.pmid: 14315085
references.citation: Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7
references.pmid: 17460043
references.citation: Br J Haematol. 1999 May;105(2):571
references.pmid: 10233444
references.citation: Br J Haematol. 1996 Mar;92(3):758-65
references.pmid: 8616050
references.citation: Free Radic Biol Med. 2001 Sep 15;31(6):824-31
references.pmid: 11557321
references.citation: Mutat Res. 1991 Jan;256(1):45-8
references.pmid: 1944386
references.citation: J Toxicol Environ Health. 1995 Oct;46(2):183-201
references.pmid: 7563217
references.citation: Eur J Haematol Suppl. 1996;60:111-8
references.pmid: 8987252
references.citation: Int J Toxicol. 2007 Jul-Aug;26(4):315-23
references.pmid: 17661222
references.citation: Blood. 2006 Feb 15;107(4):1299-307
references.pmid: 16254144
references.citation: Nucleic Acids Res. 2005 Feb 24;33(4):1230-9
references.pmid: 15731343
references.citation: Toxicology. 2001 May 21;162(3):179-91
references.pmid: 11369114
references.citation: Br J Haematol. 1995 Sep;91(1):245-52
references.pmid: 7577642
references.citation: Haematologica. 2008 Jun;93(6):943-4
references.pmid: 18460650
references.citation: Hum Exp Toxicol. 1997 Oct;16(10):570-6
references.pmid: 9363474
references.citation: Am J Respir Crit Care Med. 2006 Oct 1;174(7):810-6
references.pmid: 16809633
references.citation: Lab Invest. 2000 Nov;80(11):1739-47
references.pmid: 11092534
references.citation: Blood. 1995 Jun 1;85(11):3183-90
references.pmid: 7538820
references.citation: J Biol Chem. 1999 Jan 8;274(2):962-71
references.pmid: 9873038
references.citation: Am J Respir Crit Care Med. 2008 Oct 1;178(7):729-37
references.pmid: 18635888
references.citation: Science. 2009 Jan 30;323(5914):644-8
references.pmid: 19179534
references.citation: N Engl J Med. 2001 Aug 16;345(7):517-25
references.pmid: 11519507
references.citation: CMAJ. 2004 Jul 20;171(2):153-60
references.pmid: 15262886
references.citation: Am J Ind Med. 1997 Mar;31(3):287-95
references.pmid: 9055951
references.citation: Cell. 2000 Mar 3;100(5):503-14
references.pmid: 10721988
references.citation: Nature. 1989 Jan 26;337(6205):331-7
references.pmid: 2463488
references.citation: Proc Natl Acad Sci U S A. 1992 May 1;89(9):3691-5
references.pmid: 1570288
references.citation: Clin Med Res. 2005 May;3(2):102-8
references.pmid: 16012128
references.citation: Science. 2004 Dec 3;306(5702):1774-6
references.pmid: 15576619
references.citation: Lancet. 2003 Feb 1;361(9355):393-5
references.pmid: 12573379
references.citation: Res Commun Chem Pathol Pharmacol. 1978 Apr;20(1):191-4
references.pmid: 663402
references.citation: Blood. 1984 Nov;64(5):1036-41
references.pmid: 6487805
references.citation: Mutat Res. 2004 May 18;549(1-2):195-212
references.pmid: 15120971
references.citation: Am J Respir Crit Care Med. 2005 Nov 1;172(9):1146-52
references.pmid: 16109978
references.citation: Lancet. 2005 Aug 20-26;366(9486):662-4
references.pmid: 16112303
references.citation: J Virol. 1997 Jun;71(6):4589-98
references.pmid: 9151853
references.citation: Cell. 1997 Oct 3;91(1):25-34
references.pmid: 9335332
references.citation: Respir Res. 2002;3:3
references.pmid: 11806838
references.citation: Osteoporos Int. 2007 Sep;18(9):1203-10
references.pmid: 17347788
references.citation: Nature. 1999 Dec 2;402(6761):551-5
references.pmid: 10591218
references.citation: Curr Opin Pulm Med. 1999 Sep;5(5):275-7
references.pmid: 10461529
references.citation: Blood Cells Mol Dis. 2001 Mar-Apr;27(2):353-7
references.pmid: 11259155
references.citation: Nat Genet. 2002 Oct;32(2):280-4
references.pmid: 12355086
references.citation: Nat Genet. 1997 Dec;17(4):498-502
references.pmid: 9398860
references.citation: Mol Cell Biol. 2000 Jul;20(14):5196-207
references.pmid: 10866675
references.citation: Blood. 2003 Aug 1;102(3):916-8
references.pmid: 12676774
references.citation: Blood. 2005 Mar 15;105(6):2332-9
references.pmid: 15550482
references.citation: JAMA. 1963 Sep 7;185:748-51
references.pmid: 14044205
references.citation: J Exp Pathol. 1987;3(3):259-69
references.pmid: 2835466
references.citation: Nat New Biol. 1972 Oct 18;239(94):197-201
references.pmid: 4507727
references.citation: Free Radic Biol Med. 1998 Apr;24(6):885-93
references.pmid: 9607597
references.citation: Trends Biochem Sci. 2004 Apr;29(4):183-92
references.pmid: 15082312
references.citation: N Engl J Med. 2005 Apr 7;352(14):1413-24
references.pmid: 15814878
references.citation: Viral Immunol. 1991 Winter;4(4):269-80
references.pmid: 1668061
references.citation: Genes Dev. 1997 Dec 1;11(23):3109-15
references.pmid: 9389643
references.citation: Int J Radiat Oncol Biol Phys. 1979 Sep;5(9):1621-5
references.pmid: 395140
references.citation: EMBO J. 1999 Jun 1;18(11):2950-60
references.pmid: 10357808
references.citation: Stem Cells. 2004;22(5):750-8
references.pmid: 15342939
references.citation: Proc Natl Acad Sci U S A. 1995 Jan 3;92(1):258-62
references.pmid: 7816828
references.citation: Curr Biol. 1998 Jan 29;8(3):177-80
references.pmid: 9443919
references.citation: Blood. 2005 Aug 15;106(4):1246-52
references.pmid: 15886322
references.citation: Cell. 1999 May 14;97(4):503-14
references.pmid: 10338214
references.citation: JAMA. 1992 May 13;267(18):2472-3
references.pmid: 1573722
references.citation: Cancer Res. 1996 Feb 1;56(3):645-50
references.pmid: 8564985
references.citation: Blood Cells Mol Dis. 2008 Mar-Apr;40(2):185-191
references.pmid: 17936651
references.citation: Mol Biol Cell. 2004 Jan;15(1):81-90
references.pmid: 14528011
references.citation: Am J Hum Genet. 2008 Feb;82(2):501-9
references.pmid: 18252230
references.citation: Rev Med Virol. 2003 Nov-Dec;13(6):347-59
references.pmid: 14625883
references.citation: N Engl J Med. 2007 Mar 29;356(13):1317-26
references.pmid: 17392301
references.citation: Cell. 1999 Mar 5;96(5):701-12
references.pmid: 10089885
references.citation: Proc Natl Acad Sci U S A. 2004 Dec 7;101(49):17312-5
references.pmid: 15574496
references.citation: Blood. 2004 Dec 15;104(13):3936-42
references.pmid: 15319288
references.citation: Blood. 2007 Jan 15;109(2):524-32
references.pmid: 16990594
references.citation: Microbiol Mol Biol Rev. 2002 Sep;66(3):407-25, table of contents
references.pmid: 12208997
references.citation: Blood Rev. 2003 Dec;17(4):217-25
references.pmid: 14556776
references.citation: Blood. 2006 Oct 15;108(8):2509-19
references.pmid: 16778145
references.citation: N Engl J Med. 2004 Feb 5;350(6):586-97
references.pmid: 14762186
references.citation: J Cell Physiol. 1982 Sep;112(3):345-52
references.pmid: 7130283
references.citation: Science. 1995 Sep 1;269(5228):1236-41
references.pmid: 7544491
references.citation: Toxicol Appl Pharmacol. 1987 Oct;91(1):85-95
references.pmid: 2823417
references.citation: Exp Cell Res. 1995 Sep;220(1):194-200
references.pmid: 7664836
references.citation: Cell Cycle. 2009 May 1;8(9):1329-31
references.pmid: 19342896
references.citation: BMJ. 1990 Nov 3;301(6759):1017-21
references.pmid: 2249048
references.citation: J Appl Toxicol. 1991 Dec;11(6):443-6
references.pmid: 1761802
references.citation: Hypertension. 2004 Feb;43(2):182-5
references.pmid: 14732735
references.citation: Curr Opin Struct Biol. 1999 Feb;9(1):56-65
references.pmid: 10047586
references.citation: J Toxicol Environ Health. 1985;16(5):673-8
references.pmid: 4093989
references.citation: Mol Cell Biol. 2003 Oct;23(19):6849-56
references.pmid: 12972604
references.citation: J Am Med Assoc. 1950 Apr 29;142(17):1333-35
references.pmid: 15412135
references.citation: Nucleic Acids Res. 2005 Jan 19;33(2):497-510
references.pmid: 15659581
references.citation: Semin Hematol. 2006 Jul;43(3):157-66
references.pmid: 16822458
references.citation: Eur Respir J. 2006 Mar;27(3):525-8
references.pmid: 16507852
references.citation: Thorax. 1997 Jan;52(1):38-44
references.pmid: 9039238
references.citation: Lancet. 2003 Jun 7;361(9373):1993-4
references.pmid: 12801777
references.citation: Hum Genet. 1986 Apr;72(4):348-51
references.pmid: 3009302
references.citation: Mol Cell Biol. 2002 Feb;22(4):1253-65
references.pmid: 11809815
references.citation: Nature. 1998 Apr 9;392(6676):569-74
references.pmid: 9560153
references.citation: J Lab Clin Med. 1980 Jul;96(1):36-46
references.pmid: 7391656
references.citation: Nature. 1990 May 31;345(6274):458-60
references.pmid: 2342578