Standard

Total body bone mineral density

near LRP5 · rs11228240

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 = 10⁻³⁵, with 8 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 56,284 European ancestry individuals, up to 1,333 African American individuals, up to 9,328 admixed individuals.

The effect Each copy of the T allele shifted the measure 0.0842 lower (95% confidence interval -); p = 4 × 10⁻³¹.

How common The T allele had a frequency of about 26% in the people studied.

Where it sits Chromosome 11, band 11q13.2 — between genes, 1.5 kb from LRP5.

How common each version is

CT

Korean KRGDB

C 75.2% · T 24.8%

Korean Korea4K

C 73.4% · T 26.6%

Korean Korea1K

C 74.2% · T 25.8%

Japanese ToMMo

C 70.3% · T 29.7%

World gnomAD

C 78.4% · T 21.6%

World 1000 Genomes

C 81.3% · T 18.7%

World TOPMed

C 77.1% · T 22.9%

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.

What each result means

C/C No copy of the version the research linked to Total body bone mineral density. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Total body bone mineral density. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Total body bone mineral density. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

Medina-Gomez C, Kemp JP, Trajanoska K, Luan J, Chesi A, Ahluwalia TS, Mook-Kanamori DO, Ham A, Hartwig FP, Evans DS, Joro R, Nedeljkovic I

and 77 more — show all

Zheng HF, Zhu K, Atalay M, Liu CT, Nethander M, Broer L, Porleifsson G, Mullin BH, Handelman SK, Nalls MA, Jessen LE, Heppe DHM, Richards JB, Wang C, Chawes B, Schraut KE, Amin N, Wareham N, Karasik D, Van der Velde N, Ikram MA, Zemel BS, Zhou Y, Carlsson CJ, Liu Y, McGuigan FE, Boer CG, Bønnelykke K, Ralston SH, Robbins JA, Walsh JP, Zillikens MC, Langenberg C, Li-Gao R, Williams FMK, Harris TB, Akesson K, Jackson RD, Sigurdsson G, den Heijer M, van der Eerden BCJ, van de Peppel J, Spector TD, Pennell C, Horta BL, Felix JF, Zhao JH, Wilson SG, de Mutsert R, Bisgaard H, Styrkársdóttir U, Jaddoe VW, Orwoll E, Lakka TA, Scott R, Grant SFA, Lorentzon M, van Duijn CM, Wilson JF, Stefansson K, Psaty BM, Kiel DP, Ohlsson C, Ntzani E, van Wijnen AJ, Forgetta V, Ghanbari M, Logan JG, Williams GR, Bassett JHD, Croucher PI, Evangelou E, Uitterlinden AG, Ackert-Bicknell CL, Tobias JH, Evans DM, Rivadeneira F

American journal of human genetics · 2018 · PMID 29304378

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

Total body bone mineral density (rs11228240). MyGeneLog™. https://www.mygenelog.com/variants/rs11228240

← See all variants