DisGeNET - a database of gene-disease associations

Restless Legs Syndrome, C0035258

Variant: rs9357271 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084.

30536387

2019

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9 (OR = 1.44, p = .000, T allele), rs9357271 of BTBD9 (OR = 1.38, p = .021, dominant model).

28329290

2017

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10<sup>-18</sup>) in <i>BTBD9</i> was associated with RLS.

29209388

2017

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

The effect of six single-nucleotide polymorphisms (SNPs) on ferritin levels in 14,126 blood donors were investigated in four genes: in Human Hemochromatosis Protein gene (HFE; rs1800562 and rs179945); in Transmembrane Protease gene, Serine 6 (TMPRSS6-regulating hepcidin; rs855791); in BTB domain containing protein gene (BTBD9-associated with restless legs syndrome; rs9357271); and in the Transferrin gene (TF; rs2280673 and rs1830084).

26597663

2016

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

However, the original genome-wide association study (GWAS) marker, BTBD9 rs9357271, had stronger association with RLS (OR = 1.84, p = 0.0003).

26298793

2015

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

There was a significant difference in the allele frequency (χ(2) = 8.14, p = 0.004) of the rs9357271 polymorphism between schizophrenic patients with and without RLS symptoms.

23361623

2013

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

GWASCAT

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

21779176

2011

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

GWASDB

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

21779176

2011

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

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).

21925394

2011

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

BEFREE

The study provided 3 single-nucleotide polymorphisms within BTBD9 associated with TS (chi(2) = 8.02 [P = .005] for rs9357271), with the risk alleles for restless legs syndrome and periodic limb movements during sleep overrepresented in the TS cohort.

19822783

2009

dbSNP:

rs9357271

BTBD9

0.880

GeneticVariation

GWASDB

A genetic risk factor for periodic limb movements in sleep.

17634447

2007

dbSNP: