Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome


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Ergün U., Say B., Güntekin Ergün S., Perçin F. E. , Inan L., Kaygısız Ş., ...More

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.64, no.4, pp.1-5, 2021 (SCI-Expanded)

  • Publication Type: Article / Article
  • Volume: 64 Issue: 4
  • Publication Date: 2021
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.1-5
  • Gazi University Affiliated: Yes

Abstract

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.