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APOB

From SNPedia

is agene
is mentioned by
Full nameapolipoprotein B (including Ag(x) antigen)
EntrezGene338
PheGenI338
VariationViewer338
ClinVarAPOB
GeneCardsAPOB
dbSNP338
SADR338
HugeNav338
wikipediaAPOB
googleAPOB
gopubmedAPOB
EVSAPOB
HEFalMpAPOB
MyGene2APOB
23andMeAPOB
UniProtP04114
EnsemblENSG00000084674
OMIM107730
# SNPs41
 Max MagnitudeChromosome positionSummary
i400033921,229,161
rs1019976821,021,128
rs1042031021,002,881
rs1042034021,002,409
rs121918383021,013,379
rs121918384021,011,301
rs121918385021,003,241
rs121918386021,010,615
rs121918387021,007,669
rs121918388021,010,033
rs121918389021,012,439
rs121918390021,009,304
rs121918391021,015,169
rs12713559321,006,196
rs1271395621,018,633
rs1271426421,042,646
rs1272076221,043,787
rs1367117021,041,028
rs143301836021,037,162
rs144467873521,006,289
rs1724044121,043,903
rs17241062021,006,196
rs281865425021,011,602
rs387906569021,004,451
rs397514255021,011,405
rs397514256021,012,516
rs520354221,036,740
rs568413021,012,603
rs5742904421,006,288
rs587776852021,005,156
rs606231236021,033,517
rs6413458021,008,720
rs67354821,014,672
rs676210021,008,652
rs679899021,028,042
rs693021,009,323
rs730880052021,006,681
rs79704525321,002,397
rs878853970021,028,484
rs878853973021,007,345
rs93419721,044,589

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

23andMe tests for three SNPs in the APOB gene that are associated with familial hypercholesterolemia type B:

  • rs5742904, also known as R3500Q (risk allele T)
  • rs12713559, also known as R3531C (risk allele A)
  • i4000339, also known as R3500W (risk allele A)