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Updated: Nov 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome
Ufuk Ergun1, Bahar Say1, Sezen Guntekin Ergun2
1Kırıkkale University Faculty of Medicine, Department of Neurology, Kırıkkale, Turkey.
Introduction:
The restless legs syndrome (RLS) is a common heritable neurologic disorder which is characterized by an irresistible desire to move and unpleasant sensations in the legs.
Methods:
We aim to identify new variants associated with RLS by performing genome-wide linkage and subsequent association analysis of forty member's family with history of RLS.
Results:
We found evidence of linkage for three loci 7q21.11 (HLOD = 3.02), 7q21.13-7q21.3 (HLOD = 3.02) and 7q22.3 (HLOD = 3.09). Fine-mapping of those regions in association study using exome sequencing identified SEMA3A (p-value = 8.5·10-4), PPP1R9A (p-value = 7.2·10-4), PUS7 (p-value = 8.7·10-4), CDHR3 (p-value = 7.2·10-4), HBP1 (p-value = 1.5·10-4) and COG5 (p-value = 1.5·10-4) genes with p-values below significance threshold.
Conclusion:
Linkage analysis with subsequent association study of exome variants identified six new genes associated with RLS mapped on 7q21 and q22.
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