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Linkage analyses reveals significant association for myopia

Friday, September 18, 2015 — Poster Session IV

12:00 p.m. – 1:30 p.m.
FAES Terrace


  • AM Musolf
  • CL Simpson
  • F Murgia
  • L Portas
  • JE Bailey-Wilson
  • D Stambolian


Myopia (nearsightedness), a medical condition where light focuses in front of the retina and not on it, is one of the most common eye diseases in the modern world. It affects 1 in 4 Americans and has reached epidemic proportions in some parts of Asia. We have genotype data from extended families with a history of myopia. These families come from three discrete populations: African-Americans, Ashkenazi Jews, and Pennsylvania Amish. Two-point and multi-point linkage analyses were performed on each family using both a general inheritance model and an inheritance model specific to each population. LOD scores of greater than 2 were observed at chromosomes 3, 4, 6, 10, 13 and 14 in the Ashkenazi Jewish families. The two highest LOD scores were equal to 2.9 and appeared in a nonsynonymous SNP in an exon of the SYNE1 gene on chromosome 6 and an intronic microsatellite in the antisense RNA gene ZMIZ1-AS1 on chromosome 10. We also observed LOD scores greater than 2 in the Pennsylvania Amish on chromosomes 2, 3, 9, 15, and 16. The two highest scores were 2.3 (an intronic microsatellite located in the MTMR10 gene on chromosome 15) and 2.2 (a microsatellite in the intergenic region on chromosome 10). Scores of greater than 1 were seen in the African-Americans on chromosomes 1, 2, 5, 8, and 20. The highest two LOD scores were 1.52 (microsatellite in a noncoding RNA gene on chromosome 4) and 1.47 (an exonic nonsynonymous SNP in GALNT15 on chromosome 3).

Category: Genetics and Genomics