Standard

LDL cholesterol x physical activity interaction (2df test)

ABCA6 · rs117753190

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10⁻²³, with 9 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 7,260 African American inactive individuals, 12,761 African American active individuals, 2,740 Asian ancestry inactive individuals, 3,615 Asian ancestry active individuals, 22,378 European ancestry inactive individuals, 55,310 European ancestry active individuals, 2,163 Hispanic or Latin American inactive individuals, 3,461 Hispanic or Latin American active individuals; replicated in 571 African American inactive individuals, 1,521 African American active individuals, 1,217 South African Black ancestry inactive individuals, 389 South African Black ancestry active individuals, 2,495 East Asian ancestry inactive individuals, 1,947 East Asian ancestry active individuals, 724 South Asian ancestry inactive individuals, 1,425 South Asian ancestry active individuals, 33,796 European ancestry inactive individuals, 50,812 European ancestry active individuals, 2,578 Hispanic inactive individuals, 8,661 Hispanic active individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10⁻²¹.

How common The C allele had a frequency of about 97% in the people studied.

Where it sits Chromosome 17, band 17q24.3 — in an intron of ABCA6.

How common each version is

CG

World gnomAD

C 98.0% · G 2.0%

World 1000 Genomes

C 99.1% · G 0.9%

World TOPMed

C 97.9% · G 2.1%

By ancestry gnomAD

European (non-Finnish)

C 96.8% · G 3.2%

African / African American

C 99.4% · G 0.6%

South Asian

C 99.8%

Admixed American (Latino)

C 98.3% · G 1.7%

Middle Eastern

C 98.3% · G 1.7%

Finnish

C 99.3% · G 0.7%

Ashkenazi Jewish

C 96.0% · G 3.9%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races. No Korean figure for this position yet.

What each result means

C/C Two copies of the version the research linked to LDL cholesterol x physical activity interaction (2df test). That is the strongest link of the three results. A link in a study is not a diagnosis.

C/G One copy of the version the research linked to LDL cholesterol x physical activity interaction (2df test). That is a smaller link than two copies.

G/G No copy of the version the research linked to LDL cholesterol x physical activity interaction (2df test). This is the starting point the study compared everyone against.

Source

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

Kilpeläinen TO, Bentley AR, Noordam R, Sung YJ, Schwander K, Winkler TW, Jakupović H, Chasman DI, Manning A, Ntalla I, Aschard H, Brown MR

and 217 more — show all

de las Fuentes L, Franceschini N, Guo X, Vojinovic D, Aslibekyan S, Feitosa MF, Kho M, Musani SK, Richard M, Wang H, Wang Z, Bartz TM, Bielak LF, Campbell A, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Li C, Lohman KK, Marten J, Sim X, Smith AV, Tajuddin SM, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Evangelou E, Gao C, Graff M, Harris SE, He M, Hsu FC, Jackson AU, Zhao JH, Kraja AT, Kühnel B, Laguzzi F, Lyytikäinen LP, Nolte IM, Rauramaa R, Riaz M, Robino A, Rueedi R, Stringham HM, Takeuchi F, van der Most PJ, Varga TV, Verweij N, Ware EB, Wen W, Li X, Yanek LR, Amin N, Arnett DK, Boerwinkle E, Brumat M, Cade B, Canouil M, Chen YI, Concas MP, Connell J, de Mutsert R, de Silva HJ, de Vries PS, Demirkan A, Ding J, Eaton CB, Faul JD, Friedlander Y, Gabriel KP, Ghanbari M, Giulianini F, Gu CC, Gu D, Harris TB, He J, Heikkinen S, Heng CK, Hunt SC, Ikram MA, Jonas JB, Koh WP, Komulainen P, Krieger JE, Kritchevsky SB, Kutalik Z, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Leander K, Lemaitre RN, Lewis CE, Liang J, Liu J, Mägi R, Manichaikul A, Meitinger T, Metspalu A, Milaneschi Y, Mohlke KL, Mosley TH Jr, Murray AD, Nalls MA, Nang EK, Nelson CP, Nona S, Norris JM, Nwuba CV, O'Connell J, Palmer ND, Papanicolau GJ, Pazoki R, Pedersen NL, Peters A, Peyser PA, Polasek O, Porteous DJ, Poveda A, Raitakari OT, Rich SS, Risch N, Robinson JG, Rose LM, Rudan I, Schreiner PJ, Scott RA, Sidney SS, Sims M, Smith JA, Snieder H, Sofer T, Starr JM, Sternfeld B, Strauch K, Tang H, Taylor KD, Tsai MY, Tuomilehto J, Uitterlinden AG, van der Ende MY, van Heemst D, Voortman T, Waldenberger M, Wennberg P, Wilson G, Xiang YB, Yao J, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, de Faire U, Deary IJ, Elliott P, Esko T, Freedman BI, Froguel P, Gasparini P, Gieger C, Kato N, Laakso M, Lakka TA, Lehtimäki T, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Samani NJ, Shu XO, van der Harst P, Van Vliet-Ostaptchouk JV, Vollenweider P, Wagenknecht LE, Wang YX, Wareham NJ, Weir DR, Wu T, Zheng W, Zhu X, Evans MK, Franks PW, Gudnason V, Hayward C, Horta BL, Kelly TN, Liu Y, North KE, Pereira AC, Ridker PM, Tai ES, van Dam RM, Fox ER, Kardia SLR, Liu CT, Mook-Kanamori DO, Province MA, Redline S, van Duijn CM, Rotter JI, Kooperberg CB, Gauderman WJ, Psaty BM, Rice K, Munroe PB, Fornage M, Cupples LA, Rotimi CN, Morrison AC, Rao DC, Loos RJF

Lifelines Cohort Study

Nature communications · 2019 · PMID 30670697 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

LDL cholesterol x physical activity interaction (2df test) (rs117753190). MyGeneLog™. https://www.mygenelog.com/variants/rs117753190

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