The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma.

PURPOSE: The relationship between clinical data and genetic ancestry in Brazilian patients with primary congenital glaucoma (PCG) was studied.

PATIENTS AND

METHODS

Thirty patients with PCG and 60 unrelated controls underwent a complete ophthalmological examination. The PCG inclusion criterion was prior surgery with a minimum follow-up of 6 months after the last surgical procedure. Clinical data were recorded and DNA from each individual was extracted and genotyped for a panel of 40 validated ancestry-informative insertion-deletion DNA polymorphisms (indels).

RESULTS

Eighteen (60%) children had bilateral disease and 16 (53.3%) were male. The mean age at diagnosis was 6.3 months and surgical follow-up time varied from 8 to 85 months. For the PCG group, the proportion of Europeans, Africans, and Amerindians was 0.784±0.044 (mean±SEM), 0.149±0.035, and 0.067±0.023, respectively, whereas for the control group was 0.730±0.048, 0.132±0.034, and 0.138±0.032, respectively. An increased proportion of African indels was associated with worse surgical prognosis (P=0.036). There was also a statistically significant (P<0.05) positive correlation between axial length and African component (initial: R=0.625; final: R=0.567).

CONCLUSIONS

An increased proportion of African indels was associated with worse prognosis for PCG in a mixed population. Genetic ancestry markers may be helpful in assessing risk factors for surgical outcomes in PCG. Further studies are needed to unveil the role of ancestry in heterogeneous populations such as Brazilians with PCG.