SNP Upstream of INSIG2 Linked to Body Mass Index
Author Information
Author(s): Lyon Helen N, Emilsson Valur, Hinney Anke, Heid Iris M, Lasky-Su Jessica, Zhu Xiaofeng, Thorleifsson Gudmar, Gunnarsdottir Steinunn, Walters G. Bragi, Thorsteinsdottir Unnur, Kong Augustine, Gulcher Jeffrey, Nguyen Thuy Trang, Scherag André, Pfeufer Arne, Meitinger Thomas, Brönner Günter, Rief Winfried, Soto-Quiros Manuel E, Avila Lydiana, Klanderman Barbara, Raby Benjamin A, Silverman Edwin K, Weiss Scott T, Laird Nan, Ding Xiao, Groop Leif, Tuomi Tiinamaija, Isomaa Bo, Bengtsson Kristina, Butler Johannah L, Cooper Richard S, Fox Caroline S, O'Donnell Christopher J, Vollmert Caren, Celedón Juan C, Wichmann H. Erich, Hebebrand Johannes, Stefansson Kari, Lange Christoph, Hirschhorn Joel N
Primary Institution: Program in Genomics, Divisions of Genetics and Endocrinology, Children's Hospital, Boston, Massachusetts
Hypothesis
Does the SNP rs7566605 upstream of the INSIG2 gene affect body mass index (BMI) across different populations?
Conclusion
The SNP rs7566605 is associated with increased BMI in some populations but not in others, indicating variability in its effect.
Supporting Evidence
- The SNP rs7566605 was associated with obesity in five out of nine cohorts tested.
- Significant associations were found in the Iceland and Essen cohorts.
- Variability in association strength was observed across different examination cycles in the Framingham Heart Study.
- Combined analysis showed significant independent validation of the association in both unrelated and family-based samples.
- The estimated risk conferred by the allele is small and may be influenced by confounding factors.
Takeaway
Scientists studied a gene variant to see if it makes people heavier. They found it does in some groups but not in others.
Methodology
The study genotyped SNP rs7566605 in nine large cohorts from eight populations and tested for association with BMI using various study designs.
Potential Biases
Possible biases include population stratification and ascertainment bias due to cohort selection.
Limitations
The association was not observed in all cohorts, suggesting potential heterogeneity and the influence of confounding factors.
Participant Demographics
Participants included diverse populations across multiple ethnicities, with a total of 16,969 individuals.
Statistical Information
P-Value
0.004
Confidence Interval
0.58–1.13
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website