ESR1 Gene and Bone Health in European Men
Author Information
Author(s): Holliday Kate L., Pye Stephen R., Thomson Wendy, Boonen Steven, Borghs Herman, Vanderschueren Dirk, Gielen Evelien, Huhtaniemi Ilpo T., Adams Judith E., Ward Kate A., Bartfai Gyorgy, Casanueva Felipe, Finn Joseph D., Forti Gianni, Giwercman Aleksander, Han Thang S., Kula Krzysztof, Labrie Fernand, Lean Michael E. J., Pendleton Neil, Punab Margus, Wu Frederick C. W., O'Neill Terence W., the EMAS study group
Primary Institution: Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom
Hypothesis
The study aims to determine the influence of the ESR1 (6q25) locus on various bone health outcomes in European men.
Conclusion
The study confirms associations between SNPs in the ESR1 (6q25) locus and bone mineral density at various sites in European men.
Supporting Evidence
- Five SNPs were significantly associated with total hip BMDa.
- Rs1999805 was associated with lower estimated BMD at multiple sites.
- Associations were observed with calcaneal ultrasound parameters.
- Results suggest that the 6q25 locus is an important genetic determinant of bone health.
Takeaway
This study looked at how certain genes affect bone health in men, finding that some gene variations are linked to lower bone density.
Methodology
The study genotyped eight SNPs in the ESR1 locus in men aged 40–79 years from seven European countries and analyzed associations with bone health parameters using linear regression.
Potential Biases
Potential for population stratification and false positives due to multiple testing.
Limitations
The response rate for participation was 45%, and there may be selection bias; also, the study was limited to men of European ancestry.
Participant Demographics
Men aged 40–79 years from seven European countries.
Statistical Information
P-Value
p=0.0001
Confidence Interval
95%CI 0.05, 0.16
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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