PMID: 18296645

Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
G Andreotti, J Chen, YT Gao, A Rashid, BE Chen, P Rosenberg, LC Sakoda, J Deng, MC Shen, BS Wang, TQ Han, BH Zhang, M Yeager, R Welch, S Chanock, JF Fraumeni, AW Hsing
2008-03

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45409167-C-G APOE c.-24+69C>G - intron_variant - 1/3
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
19-11224181-C-A LDLR c.1359-30C>A - IntronicSNV - 9/17
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
2-21259612-A-G APOB c.693+360T>C - IntronicSNV - 6/28
19-45409167-C-T APOE c.-24+69C>T - intron_variant - 1/3
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
19-11242044-G-A LDLR c.*52G>A - 3-UTRSNV 18/18 -
10-45891484-A-G ALOX5 c.431+100A>G - IntronicSNV - 3/13
8-19812812-C-T LPL c.776-540C>T - IntronicSNV - 5/9
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -