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• W2019900446 abstract "Twin and family studies indicate a significant heritability of pubertal timing and more specifically of age at menarche (AAM).Test the association of AAM with common variants of three candidate genes suspected to have a prominent role in reproductive physiology: leptin (LEP), neuropeptide Y receptor 1 (NPY1R) and GPR54.We selected the -2459 LEP, the rs7687423 NPY1R and thers350132 GPR54 variants as the more common coding or regulatory variants (minor allelic frequency >0.10) in these gene regions. To avoid stratification problems that can impair association studies, we used the Q-TDT method based on allele transmission to evaluate the relationship of these variants with AAM in 245 healthy women from 107 families of European ancestry.We found no association of AAM with any of the studied variants.Keeping in mind that common variants do not recapitulate the whole genetic variation in a given gene region, this study indicates that the studied LEP, NPY1R and GPR54 variants do not have a major influence upon pubertal timing in Caucasian women. Effects of these genetic loci on age at menarche can definitively be excluded only through determination of extended haplotypes in a larger cohort." @default.
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• W2019900446 date "2009-01-01" @default.
• W2019900446 modified "2023-10-16" @default.
• W2019900446 title "Three Common Variants of <i>LEP, NPY1R </i>and<i> GPR54</i> Show No Association with Age at Menarche" @default.
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• W2019900446 doi "https://doi.org/10.1159/000223417" @default.
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