Identifying the SPOCK Gene's Role in Age at Menarche
Author Information
Author(s): Liu Yao-Zhong, Guo Yan-Fang, Wang Liang, Tan Li-Jun, Liu Xiao-Gang, Pei Yu-Fang, Yan Han, Xiong Dong-Hai, Deng Fei-Yan, Yu Na, Zhang Yin-Ping, Zhang Lei, Lei Shu-Feng, Chen Xiang-Ding, Liu Hong-Bin, Zhu Xue-Zhen, Levy Shawn, Papasian Christopher J., Drees Betty M., Hamilton James J., Recker Robert R., Deng Hong-Wen
Primary Institution: University of Missouri Kansas City
Hypothesis
What genetic factors influence the age at menarche in women?
Conclusion
The study identified the SPOCK gene as a key factor influencing the age at menarche, validated across different ethnic groups.
Supporting Evidence
- The SPOCK gene had seven SNPs associated with age at menarche with a genome-wide false discovery rate of q<0.05.
- SNPs rs13357391 and rs1859345 were replicated in all three cohorts.
- The study included a total of 477 Caucasian women in the GWAS and 2,143 women in replication cohorts.
- Functional relevance of SPOCK was supported by its role in inhibiting MMP-2, a factor involved in menstrual cycles.
Takeaway
Scientists found a gene called SPOCK that helps determine when girls start their periods, and this was shown to be true in different groups of women.
Methodology
A genome-wide association study (GWAS) was conducted analyzing about 380,000 SNPs in 477 Caucasian women, followed by replication in additional cohorts.
Potential Biases
Potential recall bias in self-reported age at menarche data.
Limitations
The small sample size of the GWAS cohort may limit the statistical power to identify more genes related to age at menarche.
Participant Demographics
Cohorts included Caucasian women and one Chinese cohort, all females.
Statistical Information
P-Value
5.19×10−5
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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