Evidence map›Paper›PMID 20015952›Full record

ArticleHuman molecular genetics2010

European lactase persistence genotype shows evidence of association with increase in body mass index.

Johannes Kettunen, Kaisa Silander, Olli Saarela, Najaf Amin, Martina Müller, Nicholas Timpson, Ida Surakka, Samuli Ripatti, Jaana Laitinen, Anna-Liisa Hartikainen and 17 more

Open access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 2 pooled it
2.7field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Article
  6. Article
  7. Article
  8. Article
  9. MicroRNA-mediated regulation of glucose and lipid metabolism.Nature reviews. Molecular cell biology · 2021
    Review
  10. Article
  11. Article
  12. Article
  13. Clinical Utility ofNutrients · 2020
    Observational
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Adult lactose digestion status and effects on disease.Canadian journal of gastroenterology & hepatology · 2015
    Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 13 institutions in 5 countries.

Johannes KettunenWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK. johannes@sanger.ac.uk
Kaisa Silander
Olli Saarela
Najaf Amin
Martina Müller
Nicholas Timpson
Ida Surakka
Samuli Ripatti
Jaana Laitinen
Anna-Liisa Hartikainen
Anneli Pouta
Päivi Lahermo
Verneri Anttila
Satu Männistö
Antti Jula
Jarmo Virtamo
Veikko Salomaa
Terho Lehtimäki
Olli Raitakari
Christian Gieger
Erich H Wichmann
Cornelia M Van Duijn
George Davey Smith
Mark I McCarthy
Marjo-Riitta Järvelin
Markus Perola
Leena Peltonen
Finnish Institute for Health and Welfare · FIHelmholtz Zentrum München · DEErasmus MC · NLUniversity of Helsinki · FIUniversity of Oulu · FIWellcome Sanger Institute · GBBroad Institute · USCentre for Human Genetics · GBFinnish Institute of Occupational Health · FIImperial College London · GBTampere University Hospital · FIUniversity of Bristol · GBUniversity of Turku · FI

Funding

Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0M
U S-FINLAND STUDIES OF NUTRITION AND CANCERN01CN045165 · CN · NATIONAL PUBLIC HEALTH INSTITUTE · PI HEINONEN, OLLI P · 1985 to 1996
–
CCR NIH HHS N01 RC037004CCR NIH HHS N01-RC-37004CCR NIH HHS N01-RC-45035Medical Research Council G0600705NCI NIH HHS N01 CN045165NCI NIH HHS N01-CN-45165NHLBI NIH HHS 1-R01-HL087679-01NHLBI NIH HHS R01 HL087679
6 · The paper itself

Abstract

The global prevalence of obesity has increased significantly in recent decades, mainly due to excess calorie intake and increasingly sedentary lifestyle. Here, we test the association between obesity measured by body mass index (BMI) and one of the best-known genetic variants showing strong selective pressure: the functional variant in the cis-regulatory element of the lactase gene. We tested this variant since it is presumed to provide nutritional advantage in specific physical and cultural environments. We genetically defined lactase persistence (LP) in 31 720 individuals from eight European population-based studies and one family study by genotyping or imputing the European LP variant (rs4988235). We performed a meta-analysis by pooling the beta-coefficient estimates of the relationship between rs4988235 and BMI from the nine studies and found that the carriers of the allele responsible for LP among Europeans showed higher BMI (P = 7.9 x 10(-5)). Since this locus has been shown to be prone to population stratification, we paid special attention to reveal any population substructure which might be responsible for the association signal. The best evidence of exclusion of stratification came from the Dutch family sample which is robust for stratification. In this study, we highlight issues in model selection in the genome-wide association studies and problems in imputation of these special genomic regions.

Indexed as

Body Mass IndexGenetic Predisposition to DiseaseAdultAgedCohort StudiesEuropeFemaleGenotypeHumansLactaseLinear ModelsMaleMeta-Analysis as TopicMiddle AgedSample SizeSex CharacteristicsLactase

Identifiers

PMID20015952
PMCPMC2830824
OpenAlexW2119486298

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.