title: Genetic background and climatic droplet keratopathy incidence in a Mapuche population from Argentina.
abstract: OBJECTIVE
  To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder.
  
  
  METHODS
  To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups.
  
  
  RESULTS
  This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease.
  
  
  CONCLUSIONS
  These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK.
authors.affiliation: Department of Anthropology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
authors.forename: Theodore G
authors.initials: TG
authors.lastname: Schurr
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Dulik
authors.forename: Thamara A
authors.initials: TA
authors.lastname: Cafaro
authors.forename: María F
authors.initials: MF
authors.lastname: Suarez
authors.forename: Julio A
authors.initials: JA
authors.lastname: Urrets-Zavalia
authors.forename: Horacio M
authors.initials: HM
authors.lastname: Serra
mesh_terms: D000328:Adult; D001118:Argentina; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics; D003316:Corneal Diseases / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007199:Indians, South American; D008297:Male; D013666:Tears / Q000737:chemistry
chemical_list: D004272:DNA, Mitochondrial
references.citation: Can J Ophthalmol. 1973 Apr;8(2):280-5
references.pmid: 4707215
references.citation: Pediatr Neurol. 2006 Jun;34(6):464-6
references.pmid: 16765825
references.citation: Arch Ophthalmol. 1973 Mar;89(3):198-204
references.pmid: 4120599
references.citation: J Hum Genet. 2002;47(11):594-604
references.pmid: 12436196
references.citation: Am J Phys Anthropol. 2011 Nov;146(3):392-405
references.pmid: 21994016
references.citation: Br J Ophthalmol. 2007 Jan;91(1):85-8
references.pmid: 16973666
references.citation: Hum Genet. 1997 Oct;100(5-6):536-43
references.pmid: 9341867
references.citation: Ophthalmology. 1994 Mar;101(3):448-53
references.pmid: 8127565
references.citation: Am J Ophthalmol. 2006 Apr;141(4):744-6
references.pmid: 16564815
references.citation: Br J Ophthalmol. 1978 Jan;62(1):53-61
references.pmid: 629911
references.citation: Am J Hum Genet. 2003 Sep;73(3):524-39
references.pmid: 12900798
references.citation: Acta Ophthalmol (Copenh). 1972;50(4):532-8
references.pmid: 4678271
references.citation: Hum Genet. 2002 Feb;110(2):130-8
references.pmid: 11935318
references.citation: J Proteome Res. 2009 Apr;8(4):1992-2003
references.pmid: 19714880
references.citation: Hum Biol. 2008 Jun;80(3):203-37
references.pmid: 19130794
references.citation: Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):196-200
references.pmid: 8552603
references.citation: Am J Phys Anthropol. 2010 Aug;142(4):579-89
references.pmid: 20229500
references.citation: Genome Res. 1997 Oct;7(10):996-1005
references.pmid: 9331370
references.citation: Am J Hum Genet. 1999 Mar;64(3):817-31
references.pmid: 10053017
references.citation: Jpn J Ophthalmol. 2002 Jan-Feb;46(1):45-51
references.pmid: 11853713
references.citation: Mol Biol Evol. 2006 Nov;23(11):2161-74
references.pmid: 16916941
references.citation: Hum Genet. 2004 Jan;114(2):127-48
references.pmid: 14586639
references.citation: Cornea. 2007 Aug;26(7):800-4
references.pmid: 17667612
references.citation: Am J Hum Genet. 2002 Jan;70(1):192-206
references.pmid: 11731934
references.citation: Cornea. 2000 Jul;19(4):455-8
references.pmid: 10928756
references.citation: Ophthalmic Genet. 2002 Dec;23(4):247-51
references.pmid: 12567267
references.citation: Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9
references.pmid: 9412783
references.citation: Arch Ophthalmol. 1973 Mar;89(3):193-7
references.pmid: 4120598
references.citation: Mol Biol Evol. 2002 Oct;19(10):1737-51
references.pmid: 12270900
references.citation: Am J Phys Anthropol. 1999 Jan;108(1):1-39
references.pmid: 9915299
references.citation: Br J Ophthalmol. 1976 Apr;60(4):256-62
references.pmid: 1084159
references.citation: Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2829-37
references.pmid: 18378572
references.citation: Nat Rev Genet. 2003 Aug;4(8):598-612
references.pmid: 12897772
references.citation: Hum Mol Genet. 2010 Jan 15;19(2):374-86
references.pmid: 19875463
references.citation: Am J Phys Anthropol. 2006 Sep;131(1):108-19
references.pmid: 16485304
references.citation: J Hum Genet. 2006;51(3):161-170
references.pmid: 16418878
references.citation: Am J Hum Genet. 1994 Oct;55(4):760-76
references.pmid: 7942855
references.citation: Exp Eye Res. 2007 Jan;84(1):3-12
references.pmid: 16797007
references.citation: Br J Ophthalmol. 1991 Dec;75(12):734-6
references.pmid: 1768663
references.citation: Am J Hum Genet. 1993 Sep;53(3):563-90
references.pmid: 7688932
references.citation: Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1256-63
references.pmid: 15790887
references.citation: PLoS One. 2010 May 21;5(5):e10760
references.pmid: 20505825
references.citation: Int Ophthalmol Clin. 1986 Winter;26(4):63-8
references.pmid: 3804636
references.citation: Am J Hum Genet. 2003 Sep;73(3):700-5
references.pmid: 12929085
references.citation: Genetics. 1996 Dec;144(4):1835-50
references.pmid: 8978068
references.citation: Surv Ophthalmol. 1992 Jan-Feb;36(4):241-53
references.pmid: 1549808
references.citation: Am J Hum Genet. 2001 Sep;69(3):615-28
references.pmid: 11481588
references.citation: Acta Ophthalmol (Copenh). 1974;52(6):777-85
references.pmid: 4549005
references.citation: J Fr Ophtalmol. 1988;11(11):733-40
references.pmid: 3266940
references.citation: Trans Ophthalmol Soc U K. 1978 Apr;98(1):10-3
references.pmid: 285489
references.citation: Br J Ophthalmol. 2007 May;91(5):696-7
references.pmid: 17446514
references.citation: Am J Phys Anthropol. 2012 Jul;148(3):422-35
references.pmid: 22549307
references.citation: Am J Hum Genet. 1997 May;60(5):1107-21
references.pmid: 9150158
references.citation: Am J Phys Anthropol. 2001 Jul;115(3):199-203
references.pmid: 11424071
references.citation: Nat Genet. 2000 Nov;26(3):358-61
references.pmid: 11062480
references.citation: Br J Ophthalmol. 1973 Sep;57(9):657-64
references.pmid: 4543269
references.citation: Am J Phys Anthropol. 2000 Sep;113(1):19-29
references.pmid: 10954617
references.citation: Am J Phys Anthropol. 1995 Dec;98(4):411-30
references.pmid: 8599378
references.citation: Am J Phys Anthropol. 2008 Jul;136(3):278-93
references.pmid: 18322915
references.citation: Cont Lens Anterior Eye. 2003 Sep;26(3):139-46
references.pmid: 16303509