ArticleThe Journal of clinical endocrinology and metabolism2012
Genome-wide copy number variation association analyses for age at menarche.
Article in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Genetics of pubertal timing.Current opinion in pediatrics · 2018Review
- Association of gene polymorphisms in ABO blood group chromosomal regions and menstrual disorders.Experimental and therapeutic medicine · 2015Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
contextMenarche is a significant physiological event for women. Age at menarche (AAM) is a heritable trait associated with many common female diseases. The genetic basis and the mechanism for AAM are largely unknown. Copy number variation (CNV) is a common type of genetic variation underlying human complex traits. The importance of CNV to AAM variation is unclear.
objectiveThe objective of the study was to identify CNV important to AAM variation.
designWe performed the first genome-wide CNV study of AAM in 1654 Caucasian females using Affymetrix human single-nucleotide polymorphism 6.0 array. We also replicated our findings in another Chinese cohort containing 752 women.
resultsWe identified a CNV, variation_38399, in the 2q14.2 region, for association with AAM (P = 1.03 × 10(-3)). The CNV has two variants (one copy and two copy), with a mean AAM of 14.00 yr and 12.90 yr, respectively. Interestingly, in a Chinese sample containing 752 women, this CNV has been replicated both with a marginally significant P = 0.090 and with a same direction of effect (a lower copy number for a later AAM). The CNV is located approximately 75 kb upstream of the diazepam binding inhibitor (DBI), a gene known to regulate estrogen levels, a key factor for menarche.
conclusionOur findings for the first time identified a novel CNV and suggested the DBI-mediated endocrinological pathway as a potential mechanism for AAM regulation.
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