Identifying the PLCL1 Gene Linked to Hip Bone Size in Women
Author Information
Author(s): Liu Yao-Zhong, Wang Liang, Li Jian, Yan Han, Deloukas Panos, Soranzo Nicole, Chinnapen-Horsley Usha, Williams Frances M., Xiong Dong-Hai, Zhang Yin-Ping, Jin Tian-Bo, Levy Shawn, Papasian Christopher J., Drees Betty M., Hamilton James J., Recker Robert R., Spector Tim D., Deng Hong-Wen
Primary Institution: School of Medicine, University of Missouri - Kansas City
Hypothesis
What genetic factors are associated with hip bone size variation in females?
Conclusion
The study identified the PLCL1 gene as significantly associated with hip bone size in females, which may contribute to understanding hip fracture risk.
Supporting Evidence
- The PLCL1 gene was associated with hip bone size at a genome-wide significance level in female subjects.
- Replication of the gene's association with hip bone size was confirmed in an independent UK cohort.
- Imputation analyses showed significant overlap of association signals in the PLCL1 gene region.
Takeaway
Scientists found a gene called PLCL1 that helps explain why some women have bigger hip bones than others, which is important for preventing hip fractures.
Methodology
The study performed a genome-wide association study (GWAS) analyzing approximately 380,000 SNPs in 1,000 unrelated Caucasian subjects.
Potential Biases
Potential bias due to population stratification was assessed and found to be minimal.
Limitations
The study primarily focused on females, limiting the generalizability of findings to males.
Participant Demographics
The study included 1,000 unrelated Caucasian subjects, with 501 females and 499 males.
Statistical Information
P-Value
3.72×10−7
Confidence Interval
0.09–0.75
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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