PMID: 24256507

Goodloe R, Brown-Gentry K, Gillani NB, Jin H, Mayo P, Allen M, McClellan B Jr, Boston J, Sutcliffe C, Schnetz-Boutaud N, Dilks HH, Crawford DC
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).
BMC Med Genet. 2013 Nov 21;14:120. doi: 10.1186/1471-2350-14-120., [PubMed]
Sentences
No. Mutations Sentence Comment
90 ABCG5 p.Arg50Cys
X
ABCG5 p.Arg50Cys 24256507:90:61
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24256507:90:120
status: NEW
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 Replication in European-descent populations ABCG5 rs6756629 (R50C) is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent [20]. Login to comment 105 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24256507:105:70
status: NEW
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 Recent statistical and functional data suggest that ABCG5 rs11887534 (D19H) is likely the functional variant responsible for the association with gallstone disease risk while rs6756629 is likely a tagSNP [24]. Login to comment 211 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24256507:211:172
status: NEW
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 18. Katsika D, Magnusson P, Krawczyk M, Grunhage F, Lichtenstein P, Einarsson C, Lammert F, Marschall HU: Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype. Login to comment 256 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24256507:256:104
status: NEW
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 Kuo KK, Shin SJ, Chen ZC, Yang Y-HC, Yang JF, Hsiao PJ: Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. Login to comment