GENETIC ANCESTRY OF PATIENTS WITH CLIMATIC DROPLET KERATOPATHY IN ARGENTINA.

SCHURR T; DULIK MC,; CAFARO TA,; URRETS-ZAVALIA EA; URRETS-ZAVALIA JA; SERRA H.M

Florida USA

Congreso; ARVO; 2008

<!-- /* Font Definitions */ @font-face {font-family:宋体; mso-font-charset:80; mso-generic-font-family:auto; mso-font-pitch:variable; mso-font-signature:16777216 0 235143169 0 262144 0;} /* Style Definitions */ p.MsoNormal, li.MsoNormal, div.MsoNormal {mso-style-parent:""; margin:0cm; margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-fareast-font-family:宋体; mso-ansi-language:EN-US; mso-fareast-language:EN-US;} @page Section1 {size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0;} div.Section1 {page:Section1;} --> PURPOSE: Climatic droplet keratopathy (CDK) is an acquired, often bilateral degenerative corneal disease with a high prevalence in certain regions, characterized by progressive opacity of its anterior layers. Although CDK’s etiology is unknown, it is considered a multifactorial disease. It is well understood that the expression of complex diseases can be influenced by the genetic ancestry of the individuals having them.  Prostate cancer, hypertension, cardiovascular disease and diabetes are several examples of such diseases with population based genetic effects. To explore whether this relationship existed for CDK cases among the Mapuche descendant of north-west area of Patagonia in Argentina, we examined the genetic variation in 57 individuals to determine their genetic ancestry. Twenty-nine of them were part of the CDK (patient) population, while 28 were part of control group.   METHODS: We characterized mitochondrial DNA and Y-chromosome diversity in these individuals through TaqMan based SNP analyses and DNA sequencing to ascertain their maternal and paternal haplogroups, or lineages, respectively.    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.  Although the Y-chromosome data also revealed differences in specific haplogroup frequencies between these two populations, there was no statistical significance between individual paternal genetic background and incidence or stage of disease.    CONCLUSION: These results indicate that genetic ancestry is much less of a factor in the expression of CDK than for other complex diseases involving metabolic and bioenergetic processes.