openSNP
Toggle
News
Data
SNPs
Genotypes
Phenotypes
Phenotypes Pictures
Open Humans Connections
Latest Data
About
About Us
Statistics
FAQ
Sign In
x
It seems like you have JavaScript disabled. This will make some features of openSNP.org, like the drop-down menus, break.
SNP rs328
Basic Information
Name
rs328
Chromosome
8
Position
19962213
Weight of evidence
68
Genotype Frequency
Allele Frequency
Additional Information
SNPedia (1)
PLoS (20)
Mendeley (17)
Personal Genome Project (1)
Genome.gov (2)
Other users (1530)
Comments (0)
Links to SNPedia
Title
Summary
rs328 C/C
Common in clinvar
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).
Publications on this SNP on the Public Library of Science:
First Author
Title
Year of Publication
# of readers
Rahul C. Deo
Genetic Differences between the Determinants of Lipid Profile Phenotypes in African and European Americans: The Jackson Heart Study
2009
8916
Hansi Weissensteiner
SNPflow: A Lightweight Application for the Processing, Storing and Automatic Quality Checking of Genotyping Assays
2013
2671
Ilze Radovica
The Association of Common SNPs and Haplotypes in
CETP
Gene with HDL Cholesterol Levels in Latvian Population
2013
3171
Jennifer K. Lowe
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae
2009
12839
Jinghui Yang
Genetic Association Study with Metabolic Syndrome and Metabolic-Related Traits in a Cross-Sectional Sample and a 10-Year Longitudinal Sample of Chinese Elderly Population
2014
2701
Susan K. Service
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci
2014
10793
Wenjing Ou
Association of CVD Candidate Gene Polymorphisms with Ischemic Stroke and Cerebral Hemorrhage in Chinese Individuals
2014
2033
Ani Manichaikul
Population Structure of Hispanics in the United States: The Multi-Ethnic Study of Atherosclerosis
2012
8999
Jeffrey J. W. Verschuren
Systematic Testing of Literature Reported Genetic Variation Associated with Coronary Restenosis: Results of the GENDER Study
2012
2110
Ying Wu
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained
2013
9854
Li Zhou
A Genome Wide Association Study Identifies Common Variants Associated with Lipid Levels in the Chinese Population
2013
4292
Amy R. Bentley
Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans
2014
4279
Logan Dumitrescu
Genetic Determinants of Lipid Traits in Diverse Populations from the Population Architecture using Genomics and Epidemiology (PAGE) Study
2011
8335
Clara C. Elbers
Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations
2012
4600
Molly A. Hall
Detection of Pleiotropy through a Phenome-Wide Association Study (PheWAS) of Epidemiologic Data as Part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study
2014
4663
Ans Rombout
Lipoprotein Lipase SNPs rs13702 and rs301 Correlate with Clinical Outcome in Chronic Lymphocytic Leukemia Patients
2015
713
The PLOS ONE Staff
Correction: Lipoprotein Lipase SNPs rs13702 and rs301 Correlate with Clinical Outcome in Chronic Lymphocytic Leukemia Patients
2015
451
Katherine E. Beaney
Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population
2015
2273
Marquitta J. White
SHBG Gene Polymorphism (rs1799941) Associates with Metabolic Syndrome in Children and Adolescents
2015
1437
Anna Montali
Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects
2015
1280
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
Yingchang Lu
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
2008
15
10.1194/jlr.M800232-JLR200
Jian Wang
Polygenic determinants of severe hypertriglyceridemia.
2008
17
10.1093/hmg/ddn188
Yingchang Lu
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations
2008
3
M800232-JLR200 [pii]\r10.1194/jlr.M800232-JLR200 [doi]
Gurdeep S Sagoo
Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
2008
9
-
Antonio Garcia-Rios
Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism
2011
11
10.1016/j.atherosclerosis.2011.07.092
Aihua Tan
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
2011
10
10.1093/hmg/ddr587
Philippa J Talmud
The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease.
2007
2
10.1042/CS20060344
Y C Lu
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations
2008
1
10.1194/jlr.M800232-JLR200
W Tang
Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study
2010
1
CIRCGENETICS.109.913426 [pii]\r10.1161/CIRCGENETICS.109.913426
María-José Ariza
Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
2010
14
10.1186/1471-2350-11-66
María-José Ariza
Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study.
2010
15
10.1186/1471-2350-11-66
PJ Talmud
The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease
2007
0
-
Gurdeep S Sagoo
Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
2008
17
10.1093/aje/kwn235
Alexis C Wood
Lipoprotein Lipase S447X variant associated with VLDL, LDL and HDL diameter clustering in the MetS
2011
8
10.1186/1476-511X-10-143
Alexis C Wood
Lipoprotein Lipase S447X variant associated with VLDL, LDL and HDL diameter clustering in the Metabolic Syndrome
2011
7
10.1186/1476-511X-10-143
R J Webster
The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.
2009
5
10.1007/s00125-008-1175-9
Gurdeep S Sagoo
Human Genome Epidemiology ( HuGE ) Review Seven Lipoprotein Lipase Gene Polymorphisms , Lipid Fractions , and Coronary Disease : A HuGE Association Review and Meta-Analysis
2008
2
10.1093/aje/kwn235
Evidence compiled by the
Personal Genome Project
Gene
Impact
Trait
Summary
Inheritance
LPL
Low clinical importance, Uncertain protective
This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.
unknown
Publications listed by
Genome.gov
First Author
Title
Journal
Publication Date
Trait
p-value
Confidence Interval
Kathiresan S
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
Nat Genet
01/13/2008
Triglycerides
2.0e-28
[0.15-0.23] % SD lower
Tan A
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
Hum Mol Genet
12/30/2011
Triglycerides
1.0e-09
NR
Users who share this SNP:
Genome Browser