TY - JOUR
T1 - Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population
AU - Yang, Qinbo
AU - Li, Lin
AU - Chen, Qiuyun
AU - Foldvary-Schaefer, Nancy
AU - Ondo, William G.
AU - Wang, Qing Kenneth
N1 - Funding Information:
This study was supported in part by Grants from the NIH (R01 HL094498), the China Scholarship Council, a Key Program of Hubei Natural Science Funds (2008CDA047), China National 863 Scientific Program (2006AA02Z476), the China National Basic Research Program (973 program 2007CB512002), and a Wuhan City Academic Leadership Award (200951830560).
PY - 2011/9
Y1 - 2011/9
N2 - Background: A genome-wide association study (GWAS) identified significant association between variants in MEIS1, BTBD9, and MAP2K5/. SKOR1 and restless legs syndrome (RLS). However, many independent replication studies are needed to unequivocally establish a valid genotype-phenotype association across various populations. To further validate the GWAS findings, we investigated three variants, rs2300478 in MEIS1, rs9357271 in BTBD9, and rs1026732 in MAP2K5/. SKOR1 in 38 RLS families and 189 RLS patients/560 controls from the US for their association with RLS. Method: Both family-based and population-based case-control association studies were carried out. Results: The family-based study showed that SNP rs1026732 in MAP2K5/. SKOR1 was significantly associated with RLS (P= 0.01). Case-control association studies showed significant association between all three variants and RLS (P= 0.0001/OR = 1.65, P= 0.0021/OR = 1.59, and P= 0.0011/OR = 1.55 for rs2300478, rs9357271, and rs1026732, respectively). Conclusion: Variants in MEIS1, BTBD9, and MAP2K5/. SKOR1 confer a significant risk of RLS in a US population.
AB - Background: A genome-wide association study (GWAS) identified significant association between variants in MEIS1, BTBD9, and MAP2K5/. SKOR1 and restless legs syndrome (RLS). However, many independent replication studies are needed to unequivocally establish a valid genotype-phenotype association across various populations. To further validate the GWAS findings, we investigated three variants, rs2300478 in MEIS1, rs9357271 in BTBD9, and rs1026732 in MAP2K5/. SKOR1 in 38 RLS families and 189 RLS patients/560 controls from the US for their association with RLS. Method: Both family-based and population-based case-control association studies were carried out. Results: The family-based study showed that SNP rs1026732 in MAP2K5/. SKOR1 was significantly associated with RLS (P= 0.01). Case-control association studies showed significant association between all three variants and RLS (P= 0.0001/OR = 1.65, P= 0.0021/OR = 1.59, and P= 0.0011/OR = 1.55 for rs2300478, rs9357271, and rs1026732, respectively). Conclusion: Variants in MEIS1, BTBD9, and MAP2K5/. SKOR1 confer a significant risk of RLS in a US population.
KW - BTBD
KW - Genome-wide association studies (GWAS)
KW - MAP2K5/SKOR1
KW - MEIS1
KW - Restless legs syndrome (RLS)
KW - Single nucleotide polymorphisms (SNP)
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U2 - 10.1016/j.sleep.2011.06.006
DO - 10.1016/j.sleep.2011.06.006
M3 - Article
C2 - 21925394
AN - SCOPUS:80052962734
SN - 1389-9457
VL - 12
SP - 800
EP - 804
JO - Sleep Medicine
JF - Sleep Medicine
IS - 8
ER -