Earlier menarche correlates with shorter adult height1 and higher childhood body fat2. We conducted a genome-wide association study of age at menarche (AAM) on 15,297 Icelandic women. Combined analysis with replication sets from Iceland, Denmark and the Netherlands (N = 10,040) yielded a significant association between rs314280[T] on 6q21, near the LIN28B gene, and AAM (effect = 1.2 months later per allele; P = 1.8 × 10−14). A second SNP within the same linkage disequilibrium (LD) block, rs314277, splits rs314280[T] into two haplotypes with different effects (0.9 months and 1.9 months per allele). These variants have been associated with greater adult height3,4. The association with adult height did not account for the association with AAM or vice versa. Other variants, previously associated with height3,4,5, did not associate significantly with AAM. Given the link between body fat and AAM, we also assessed 11 variants recently associated with higher body mass index (BMI)6,7,8,9,10,11 and 5 of those associated with earlier AAM.
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Sulem, P., Gudbjartsson, D., Rafnar, T. et al. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet 41, 734–738 (2009). https://doi.org/10.1038/ng.383
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