Links to SNPedia
Title |
Summary |
rs3923809 A/A
|
1.9x risk for developing restless legs syndrome
}}
rs3923809 is a a/g variation on human chromosome 6. associated with: restless legs syndrome.
this snp, located in an intron of the [[btbd9]] gene, has a variant that is seen somewhat more frequently in individuals with [[restless legs syndrome]]. the risk allele is [[rs3923809]](a); carriers of two such alleles, i.e. those with [[rs3923809(a;a)]] genotypes, are estimated to be 1.9 fold more likely to have [[restless legs syndrome]] than [[rs3923809(g;g)]] individuals. the authors of this study suggest that perhaps half of the cases of restless legs syndrome may involve the [[rs3923809]] risk genotypes. {{pmid|17634447}}
note that 70-80% of all individuals in european populations carry one or two copies of the (a) major allele, yet [[restless legs syndrome]] is thought to affect less than 10% of all adults. therefore, although an individual may be at higher risk based on their genotype, the genotype by itself certainly isn't able to predictably cause [[restless legs syndrome]].
the association between [[rs3923809]] and rls has been replicated in three european populations, and shows the most consistent effect across populations of several snps studied.{{pmid|19279021|oa=1}}
the results of a 2013 study of korean patients suggest that the role of [[btbd9]] in the pathogenesis of [[restless legs syndrome]] is more universal across populations than previously reported and more efforts should be focused on the role of epistasis in the genetic architecture of restless legs syndrome. a significant association was found for [[rs3923809]] and [[rs9296249]] in [[btbd9]]. {{pmid|24293752}}
{{pmid|24293752 |
rs3923809 G/G
|
Normal risk of developing restless legs syndrome
}}
rs3923809 is a a/g variation on human chromosome 6. associated with: restless legs syndrome.
this snp, located in an intron of the [[btbd9]] gene, has a variant that is seen somewhat more frequently in individuals with [[restless legs syndrome]]. the risk allele is [[rs3923809]](a); carriers of two such alleles, i.e. those with [[rs3923809(a;a)]] genotypes, are estimated to be 1.9 fold more likely to have [[restless legs syndrome]] than [[rs3923809(g;g)]] individuals. the authors of this study suggest that perhaps half of the cases of restless legs syndrome may involve the [[rs3923809]] risk genotypes. {{pmid|17634447}}
consistent with this finding, another report about [[rs3923809]] links the (g) minor allele to a lower frequency of [[restless legs syndrome]] with an overall odds ratio of 0.57 (ci: 0.48-0.68). {{pmid|17637780 |
rs3923809 A/G
|
Slightly increased risk of developing restless legs syndrome
}}
rs3923809 is a a/g variation on human chromosome 6. associated with: restless legs syndrome.
this snp, located in an intron of the [[btbd9]] gene, has a variant that is seen somewhat more frequently in individuals with [[restless legs syndrome]]. the risk allele is [[rs3923809]](a); carriers of two such alleles, i.e. those with [[rs3923809(a;a)]] genotypes, are estimated to be 1.9 fold more likely to have [[restless legs syndrome]] than [[rs3923809(g;g)]] individuals. the authors of this study suggest that perhaps half of the cases of restless legs syndrome may involve the [[rs3923809]] risk genotypes. {{pmid|17634447}}
consistent with this finding, another report about [[rs3923809]] links the (g) minor allele to a lower frequency of [[restless legs syndrome]] with an overall odds ratio of 0.57 (ci: 0.48-0.68). {{pmid|17637780}}
note that 70-80% of all individuals in european populations carry one or two copies of the (a) major allele, yet [[restless legs syndrome]] is thought to affect less than 10% of all adults. therefore, although an individual may be at higher risk based on their genotype, the genotype by itself certainly isn't able to predictably cause [[restless legs syndrome]].
the association between [[rs3923809]] and rls has been replicated in three european populations, and shows the most consistent effect across populations of several snps studied.{{pmid|19279021|oa=1
}}
the results of a 2013 study of korean patients suggest that the role of [[btbd9]] in the pathogenesis of [[restless legs syndrome]] is more universal across populations than previously reported and more efforts should be focused on the role of epistasis in the genetic architecture of restless legs syndrome. a significant association was found for [[rs3923809]] and [[rs9296249]] in [[btbd9]]. {{pmid|24293752}}
{{pmid|24293752 |
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
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