LDL cholesterol - genetic associations

Fatty Acid Processing

LDL cholesterol is the low-density lipoprotein fraction that transports cholesterol from the liver to tissues. Persistently high LDL is one of the main modifiable cardiovascular risk factors.

Hundreds of variants have been linked to LDL levels, including strong-effect variants in LDLR, APOB, and PCSK9, plus many small-effect variants identified by GWAS.

This result reflects research-level variation in LDL biology and is not a cholesterol test or a treatment recommendation.

Saturated fat intake, fiber, weight, physical activity, age, sex, and medications also have a major impact on measured LDL.

All traits Compare samples

Selected sample: Demo Report
Report markers: 3 SNP entries
Genes: 1
Research: 1 study

Important Medical Disclaimer

This report is intended for educational and informational purposes only. It is not intended to provide medical advice or be used solely by the customer in the diagnosis, cure, mitigation, treatment, or prevention of any disease or health condition. If you have serious medical conditions, including but not limited to weight-related issues, diabetes, or heart disease, you should not make changes to your diet or exercise routine without consulting your healthcare provider. Under no circumstances should you modify your medication or medical care without professional medical guidance. Find more information at this link

Research summary

What this trait studies

Research summary, not an individual result

This trait is presented as population-level genetic research rather than an individual Low/High verdict, because the science behind it is either too preliminary, too easily misread as a diagnosis, or too sensitive to responsibly reduce to a single badge.

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Explore the evidence

Behind this report

Review the genes, tested markers and supporting research.

Genes analyzed

Gene summaries include genomic locations and associated markers. A detected genotype does not by itself indicate a health condition.

Understanding the data

SNP: A specific genetic marker relevant to this trait.
Genotype: The DNA letters reported at a marker location.
Variant allele: The alternative DNA sequence at the SNP site.
Variant allele frequency: The reported percentage of the reference population carrying this variant.
Variant found: Whether the variant was detected in your DNA file.

1 of 1 genes have detected genotypes.

CELSR2

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

GeneCards

Chromosome: 1
Start: 109,249,539
End: 109,275,751
Build: HG19

Associated SNPs 1 / 1 detected

Associated markers for CELSR2
SNP	Genotype	Ref. allele	Variant allele	Frequency	Status
rs646776	TT	C	T	76.16%	Detected

SNPs tested

These are the unique genetic markers analyzed for this trait. Genotypes showing "--" were not identified in your DNA file. Report marker totals can include repeated study entries; this table shows each SNP once.

Genotypes and reported variant frequencies
SNP	Chromosome	Genotype	Variant allele	Frequency
rs646776	1	TT	T	76.16%

DNA Genics reports genotypes based on the 'positive' strand of the human genome reference sequence (build 37/HG19). Other companies may use the opposite strand, so genotypes may need conversion for comparison.

Research studies

The following peer-reviewed scientific studies support the genetic associations analyzed in this report.

Biological, clinical and population relevance of 95 loci for blood lipids

Evidence

Very strong scientific evidence

08/05/2010 Nature

Authors: Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O&#39, Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, König IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Döring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S

Study sample: 96,598 individuals (european ancestry)