Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1
2011

Identifying Genetic Risk Factors for Restless Legs Syndrome

Sample size: 922 publication 10 minutes Evidence: high

Author Information

Author(s): Winkelmann Juliane, Czamara Darina, Schormair Barbara, Knauf Franziska, Schulte Eva C., Trenkwalder Claudia, Dauvilliers Yves, Polo Olli, Högl Birgit, Berger Klaus, Fuhs Andrea, Gross Nadine, Stiasny-Kolster Karin, Oertel Wolfgang, Bachmann Cornelius G., Paulus Walter, Xiong Lan, Montplaisir Jacques, Rouleau Guy A., Fietze Ingo, Vávrová Jana, Kemlink David, Sonka Karel, Nevsimalova Sona, Lin Siong-Chi, Wszolek Zbigniew, Vilariño-Güell Carles, Farrer Matthew J., Gschliesser Viola, Frauscher Birgit, Falkenstetter Tina, Poewe Werner, Allen Richard P., Earley Christopher J., Ondo William G., Le Wei-Dong, Spieler Derek, Kaffe Maria, Zimprich Alexander, Kettunen Johannes, Perola Markus, Silander Kaisa, Cournu-Rebeix Isabelle, Francavilla Marcella, Fontenille Claire, Fontaine Bertrand, Vodicka Pavel, Prokisch Holger, Lichtner Peter, Peppard Paul, Faraco Juliette, Mignot Emmanuel, Gieger Christian, Illig Thomas, Wichmann H.-Erich, Müller-Myhsok Bertram, Meitinger Thomas

Primary Institution: Technische Universität München

Hypothesis

Can genome-wide association studies identify new susceptibility loci for restless legs syndrome?

Conclusion

The study identified two novel genetic loci associated with restless legs syndrome, which may help in understanding the disorder's genetic basis.

Supporting Evidence

  • The study involved a large sample size of 922 cases and 1,526 controls.
  • Two novel loci were identified with genome-wide significance.
  • Findings may contribute to understanding the genetic basis of restless legs syndrome.

Takeaway

Scientists looked at the DNA of people with restless legs syndrome and found new genes that might make some people more likely to have this condition.

Methodology

The study involved a genome-wide association study with 922 cases and 1,526 controls, followed by replication in larger samples.

Potential Biases

Potential bias due to population stratification and the exclusion of certain demographic groups.

Limitations

The study primarily focused on individuals of European ancestry, which may limit the generalizability of the findings.

Participant Demographics

Participants were primarily of European descent, including cases from Germany, Austria, the Czech Republic, France, Finland, and Canada.

Statistical Information

P-Value

9.03 × 10−11 for rs6747972; 9.4 × 10−19 for rs3104767

Confidence Interval

1.23 (1.16–1.31) for rs6747972; 1.35 (1.27–1.43) for rs3104767

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1002171

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