APOB

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 GeneRIF     338
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Chromosome position Summary
Rs1042031 2107925721,079,257
Rs1042034 2107878521,078,785
Rs1367117 2111740421,117,404
Rs520354 2111311621,113,116
Rs568413 2108897921,088,979
Rs5742904 2108266421,082,664
Rs673548 2109104821,091,048
Rs679899 2110441821,104,418
Rs693 2108569921,085,699


The apolipoprotein B gene, APOB, encodes a protein implicated in cholesterol metabolism and thus - potentially - heart disease risk.

A study of 9,000+ Danish adults was conducted to determine if APOB SNPs affected low density cholesterol (LDL) levels or heart disease risk. While SNPs did affect LDL levels, they did not have statistically significant effects on overall risk for ischemic heart disease.[PMID 18160469]

The APOB SNPs associated with LDL cholesterol increases were (dbSNP rs#'s TBD):

  • T71I
  • Ivs181708g>t
  • T2488Tc>t
  • R3611

The APOB SNPs associated with LDL cholesterol decreases were:

  • Ivs4+171c>a
  • A591V
  • Ivs18+379a>c
  • P2712L
  • E4154
  • N4311S