Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
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- Authors
- Sulem, Patrick; Gudbjartsson, Daniel F; Rafnar, Thorunn; Holm, Hilma; Olafsdottir, Elinborg J; Olafsdottir, Gudridur H; Jonsson, Thorvaldur; Alexandersen, Peter; Feenstra, Bjarke; Boyd, Heather A; Aben, Katja K; Verbeek, Andre L M; Roeleveld, Nel; Jonasdottir, Aslaug; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Karason, Ari; Stacey, Simon N; Gudmundsson, Julius; Jakobsdottir, Margret; Thorleifsson, Gudmar; Hardarson, Gudmundur; Gulcher, Jeffrey; Kong, Augustine; Kiemeney, Lambertus A; Melbye, Mads; Christiansen, Claus; Tryggvadottir, Laufey; Thorsteinsdottir, Unnur; Stefansson, Kari
- Year
- 2009
- Journal
- Nature genetics
- PMID
- 19448622
- DOI
- 10.1038/ng.383
Earlier menarche correlates with shorter adult height and higher childhood body fat. 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 height. The association with adult height did not account for the association with AAM or vice versa. Other variants, previously associated with height, 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) and 5 of those associated with earlier AAM.
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| Title | Year | PMID |
|---|---|---|
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. | 2010 | 21102462 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Genetic determinants of age at menarche: does the LIN28B gene play a role? A narrative review. | Tsinopoulou VR et al. | — | 2025 | → |
| <i>Lin28b-let-7</i> Modulates mRNA Expression of <i>GnRH1</i> Through Multiple Signaling Pathways Related to Glycolysis in GT1-7 Cells. | Xie Y et al. | — | 2025 | → |
| LIN 28B expression is downregulated in mature spermatozoa of oligozoospermic men and associates with genetic variants previously linked to pubertal onset. | Lardone MC et al. | — | 2025 | → |
| Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring. | Benonisdottir S et al. | — | 2024 | → |
| Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk. | Reshetnikov E et al. | — | 2024 | → |
| Metabolic control of puberty: 60 years in the footsteps of Kennedy and Mitra's seminal work. | Anderson GM et al. | — | 2024 | → |
| Study of <i>rs7759938</i>, <i>rs314280</i>, and <i>rs314276</i> Polymorphisms of <i>LIN28B</i> in Relation to Age at Menarche in Girls of Greek Descent. | Tsinopoulou VR et al. | — | 2024 | → |
| Transcriptional repression of the oncofetal LIN28B gene by the transcription factor SOX6. | Pastori V et al. | — | 2024 | → |
| A DEAD-box helicase drives the partitioning of a pro-differentiation NAB protein into nuclear foci. | Doi A et al. | — | 2023 | → |
| gBLUP-GWAS identifies candidate genes, signaling pathways, and putative functional polymorphisms for age at puberty in gilts. | Wijesena HR et al. | — | 2023 | → |
| Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene. | Tsai MC et al. | — | 2023 | → |
| Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight. | Reshetnikova Y et al. | — | 2023 | → |
| Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews. | Li D et al. | — | 2023 | → |
| Genetics of pubertal timing. | Mancini A et al. | — | 2022 | → |
| Emerging Roles of Epigenetics in the Control of Reproductive Function: Focus on Central Neuroendocrine Mechanisms. | Vazquez MJ et al. | — | 2021 | → |
| A branched heterochronic pathway directs juvenile-to-adult transition through two LIN-29 isoforms. | Azzi C et al. | — | 2020 | → |
| Association of LIN28B polymorphisms with chronic hepatitis B virus infection. | Han Q et al. | — | 2020 | → |
| Candidate Genes for Age at Menarche Are Associated With Uterine Leiomyoma. | Ponomarenko I et al. | — | 2020 | → |
| Lin28 gene and mammalian puberty. | Cao G et al. | — | 2020 | → |
| <i>Lin28a/let-7</i> pathway modulates the <i>Hox</i> code via <i>Polycomb</i> regulation during axial patterning in vertebrates. | Sato T et al. | — | 2020 | → |
| Study on the Function and Mechanism of Lin28B in the Formation of Chicken Primordial Germ Cells. | Zuo Q et al. | — | 2020 | → |
| Age at menarche and epithelial ovarian cancer risk: A meta-analysis and Mendelian randomization study. | Yang H et al. | — | 2019 | → |
| Dataset of allele, genotype and haplotype frequencies of four <i>LIN28B</i> gene polymorphisms analyzed for association with age at menarche in Russian women. | Ponomarenko I et al. | — | 2019 | → |
| Emerging Genetic and Epigenetic Mechanisms Underlying Pubertal Maturation in Adolescence. | Aylwin CF et al. | — | 2019 | → |
| LIN28B affects gene expression at the hypothalamic-pituitary axis and serum testosterone levels. | Leinonen JT et al. | — | 2019 | → |
| Links between age at menarche, antral follicle count, and body mass index in African American and European American women. | Schuh SM et al. | — | 2019 | → |
| MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence <i>GNRH1</i> Expression. | Yellapragada V et al. | — | 2019 | → |
| Timing mechanism of sexually dimorphic nervous system differentiation. | Pereira L et al. | — | 2019 | → |
| Characterization of the dynamic change of microRNA expression in mice hypothalamus during the time of female puberty. | Omariba G et al. | — | 2018 | → |
| Genetics of pubertal timing. | Zhu J et al. | — | 2018 | → |
| MicroRNAs in Retinal Development. | Reh TA et al. | — | 2018 | → |
| Precocious Puberty and the Lin28/Let7 Pathway: The Therapeutic Effect of the Nourishing "Yin" and Purging "Fire" Traditional Chinese Medicine Mixture in a Rat Model. | He Y et al. | — | 2018 | → |
| Timing mechanism of sexually dimorphic nervous system differentiation | Pereira L et al. | — | 2018 | — |
| Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. | Rafnar T et al. | — | 2018 | → |
| Association study of LIN28B in girls with precocious puberty. | Chen YC et al. | — | 2017 | → |
| Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study. | Coignet MV et al. | — | 2017 | → |
| The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP). | Leka-Emiri S et al. | — | 2017 | → |
| Tough decoy targeting of predominant let-7 miRNA species in adult human hematopoietic cells. | de Vasconcellos JF et al. | — | 2017 | → |
| Age at menarche and age at natural menopause in East Asian women: a genome-wide association study. | Shi J et al. | — | 2016 | → |
| Association of genetic polymorphisms around the LIN28B gene and idiopathic central precocious puberty risks among Chinese girls. | Hu Z et al. | — | 2016 | → |
| Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication. | Giannakopoulos A et al. | — | 2016 | → |
| Engineering Hematopoietic Stem Cells: Lessons from Development. | Rowe RG et al. | — | 2016 | → |
| Population variation of LIN28B in the Mediterranean: Novel markers for microgeographic discrimination. | Álvarez-Álvarez MM et al. | — | 2016 | → |
| Pubertal development and regulation. | Abreu AP et al. | — | 2016 | → |
| Sex-specific regulation of weight and puberty by the Lin28/let-7 axis. | Corre C et al. | — | 2016 | → |
| Subtraction suppressive hybridisation analysis of differentially expressed genes associated with puberty in the goat hypothalamus. | Cao GL et al. | — | 2016 | → |
| The Emerging Role of Epigenetics in the Regulation of Female Puberty. | Lomniczi A et al. | — | 2016 | → |
| UGT2B4 previously implicated in the risk of breast cancer is associated with menarche timing in Ukrainian females. | Yermachenko A et al. | — | 2016 | → |
| Age at menarche and endometrial cancer risk: a dose-response meta-analysis of prospective studies. | Gong TT et al. | — | 2015 | → |
| Associations between menarche-related genetic variants and pubertal growth in male and female adolescents. | Tu W et al. | — | 2015 | → |
| Developmental variations in environmental influences including endocrine disruptors on pubertal timing and neuroendocrine control: Revision of human observations and mechanistic insight from rodents. | Parent AS et al. | — | 2015 | → |
| Differential Effects of Alcohol on Excitatory and Inhibitory Puberty-Related Peptides in the Basal Hypothalamus of the Female Rat. | Srivastava VK et al. | — | 2015 | → |
| Epigenetic regulation of female puberty. | Lomniczi A et al. | — | 2015 | → |
| Erythroid-Specific Expression of LIN28A Is Sufficient for Robust Gamma-Globin Gene and Protein Expression in Adult Erythroblasts. | Lee YT et al. | — | 2015 | → |
| Human fertility, molecular genetics, and natural selection in modern societies. | Tropf FC et al. | — | 2015 | → |
| Joint Effect of Genotypic and Phenotypic Features of Reproductive Factors on Endometrial Cancer Risk. | Wang Z et al. | — | 2015 | → |
| Molecular insights into the aetiology of female reproductive ageing. | Perry JR et al. | — | 2015 | → |
| Neuroendocrine control of the onset of puberty. | Plant TM | — | 2015 | → |
| Testicular expression of the Lin28/let-7 system: Hormonal regulation and changes during postnatal maturation and after manipulations of puberty. | Sangiao-Alvarellos S et al. | — | 2015 | → |
| The Biodemography of Fertility: A Review and Future Research Frontiers. | Mills MC et al. | — | 2015 | → |
| [Advances in the etiology, diagnosis and treatment of central precocious puberty]. | Macedo DB et al. | — | 2014 | → |
| Genetic variants of the LIN28B gene predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. | Wen J et al. | — | 2014 | → |
| Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population. | Pyun JA et al. | — | 2014 | → |
| Genome-wide association studies of age at menarche and age at natural menopause. | He C et al. | — | 2014 | → |
| Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. | Cousminer DL et al. | — | 2014 | → |
| Pubertal onset in girls is strongly influenced by genetic variation affecting FSH action. | Hagen CP et al. | — | 2014 | → |
| Pubertal timing, bone acquisition, and risk of fracture throughout life. | Bonjour JP et al. | — | 2014 | → |
| The future for genetic studies in reproduction. | Montgomery GW et al. | — | 2014 | → |
| Transcript specificity in BDNF-regulated protein synthesis. | Ruiz CR et al. | — | 2014 | → |
| Age at menarche and risk of colorectal cancer: a meta-analysis. | Li CY et al. | — | 2013 | → |
| Analysis on cDNA sequence, alternative splicing and polymorphisms associated with timing of puberty of Lin28B gene in goats. | Cao G et al. | — | 2013 | → |
| Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. | Fernández-Rhodes L et al. | — | 2013 | → |
| A system biology approach to identify regulatory pathways underlying the neuroendocrine control of female puberty in rats and nonhuman primates. | Lomniczi A et al. | — | 2013 | → |
| Body size regulation and insulin-like growth factor signaling. | Hyun S | — | 2013 | → |
| Changes in hypothalamic expression of the Lin28/let-7 system and related microRNAs during postnatal maturation and after experimental manipulations of puberty. | Sangiao-Alvarellos S et al. | — | 2013 | → |
| Control of puberty: genetics, endocrinology, and environment. | Choi JH et al. | — | 2013 | → |
| Distinct expression patterns predict differential roles of the miRNA-binding proteins, Lin28 and Lin28b, in the mouse testis: studies during postnatal development and in a model of hypogonadotropic hypogonadism. | Gaytan F et al. | — | 2013 | → |
| [Does childhood obesity affect sexual development?]. | Wagner IV et al. | — | 2013 | → |
| Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women. | Delahanty RJ et al. | — | 2013 | → |
| Exploring the RNA world in hematopoietic cells through the lens of RNA-binding proteins. | Yuan J et al. | — | 2013 | → |
| Fetal deficiency of lin28 programs life-long aberrations in growth and glucose metabolism. | Shinoda G et al. | — | 2013 | → |
| Genetic modification of the association between peripubertal dioxin exposure and pubertal onset in a cohort of Russian boys. | Humblet O et al. | — | 2013 | → |
| Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study. | Spencer KL et al. | — | 2013 | → |
| Genome-wide association study of age at menarche in African-American women. | Demerath EW et al. | — | 2013 | → |
| Genome wide association study of age at menarche in the Japanese population. | Tanikawa C et al. | — | 2013 | → |
| Investigation of peripubertal expression of Lin28a and Lin28b in C57BL/6 female mice. | Grieco A et al. | — | 2013 | → |
| Lin28a regulates germ cell pool size and fertility. | Shinoda G et al. | — | 2013 | → |
| LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo. | Lee YT et al. | — | 2013 | → |
| Lin28 enhances tissue repair by reprogramming cellular metabolism. | Shyh-Chang N et al. | — | 2013 | → |
| Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders. | Cukier P et al. | — | 2013 | → |
| Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study. | Carty CL et al. | — | 2013 | → |
| Replication of LIN28B SNP association with age of menarche in young Filipino women. | Croteau-Chonka DC et al. | — | 2013 | → |
| The role of miRNAs in regulating gene expression networks. | Gurtan AM et al. | — | 2013 | → |
| Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty. | Silveira-Neto AP et al. | — | 2012 | → |
| A LIN28B polymorphism predicts for colon cancer survival. | Ye Y et al. | — | 2012 | → |
| Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. | El-Khairi R et al. | — | 2012 | → |
| ApoE genotypes are associated with age at natural menopause in Chinese females. | Meng FT et al. | — | 2012 | → |
| A single-nucleotide polymorphism in the EAP1 gene is associated with amenorrhea/oligomenorrhea in nonhuman primates. | Lomniczi A et al. | — | 2012 | → |
| Association analyses suggest the effects of RANK and RANKL on age at menarche in Chinese women. | Pan R et al. | — | 2012 | → |
| Association of LIN28B with adult adiposity-related traits in females. | Leinonen JT et al. | — | 2012 | → |
| Clinical practice. Delayed puberty. | Palmert MR et al. | — | 2012 | → |
| Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. | Diskin SJ et al. | — | 2012 | → |
| Deciphering puberty: novel partners, novel mechanisms. | Tena-Sempere M | — | 2012 | → |
| Dissection of the maternal effects on puberty onset by embryo transplantation in mouse. | Zhou Y et al. | — | 2012 | → |
| Effects of obesity on human sexual development. | Wagner IV et al. | — | 2012 | → |
| Environmental and genetic factors influence age at menarche in women with polycystic ovary syndrome. | Carroll J et al. | — | 2012 | → |
| Functional study of risk loci of stem cell-associated gene lin-28B and associations with disease survival outcomes in epithelial ovarian cancer. | Lu L et al. | — | 2012 | → |
| Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities. | Schuh-Huerta SM et al. | — | 2012 | → |
| Genetics of age at menarche: a systematic review. | Dvornyk V et al. | — | 2012 | → |
| Genome-wide copy number variation association analyses for age at menarche. | Liu YZ et al. | — | 2012 | → |
| How does Lin28 let-7 control development and disease? | Thornton JE et al. | — | 2012 | → |
| LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression. | Molenaar JJ et al. | — | 2012 | → |
| LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls. | Park SW et al. | — | 2012 | → |
| Lin-28 homologue A (LIN28A) promotes cell cycle progression via regulation of cyclin-dependent kinase 2 (CDK2), cyclin D1 (CCND1), and cell division cycle 25 homolog A (CDC25A) expression in cancer. | Li N et al. | — | 2012 | → |
| Mechanisms affecting neuroendocrine and epigenetic regulation of body weight and onset of puberty: potential implications in the child born small for gestational age (SGA). | Roth CL et al. | — | 2012 | → |
| Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study. | Chen CT et al. | — | 2012 | → |
| Reproductive aging-associated common genetic variants and the risk of breast cancer. | He C et al. | — | 2012 | → |
| Associations between the pubertal timing-related variant in LIN28B and BMI vary across the life course. | Ong KK et al. | — | 2011 | → |
| Association study in Taiwanese girls with precocious puberty. | Chou IC et al. | — | 2011 | → |
| Caenorhabditis elegans reproductive aging: Regulation and underlying mechanisms. | Luo S et al. | — | 2011 | → |
| Child health, developmental plasticity, and epigenetic programming. | Hochberg Z et al. | — | 2011 | → |
| Conditional random fields for fast, large-scale genome-wide association studies. | Huang JC et al. | — | 2011 | → |
| Familial concordance for age at menarche: analyses from the Breakthrough Generations Study. | Morris DH et al. | — | 2011 | → |
| Is low digit ratio linked with late menarche? Evidence from the BBC internet study. | Manning JT et al. | — | 2011 | → |
| LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty. | Tommiska J et al. | — | 2011 | → |
| LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer. | Permuth-Wey J et al. | — | 2011 | → |
| Mendelian Randomisation Study of Childhood BMI and Early Menarche. | Mumby HS et al. | — | 2011 | → |
| Molecular basis for interaction of let-7 microRNAs with Lin28. | Nam Y et al. | — | 2011 | → |
| New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system. | Teles MG et al. | — | 2011 | → |
| Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants. | Pierce BL et al. | — | 2011 | → |
| Regulation of pre-miRNA Processing. | Lehrbach NJ et al. | — | 2011 | → |
| Second to fourth digit ratio: a predictor of adult penile length. | Choi IH et al. | — | 2011 | → |
| Whole genome associated studies for age at menarche. | Elks CE et al. | — | 2011 | → |
| A large-scale candidate gene association study of age at menarche and age at natural menopause. | He C et al. | — | 2010 | → |
| A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure. | Medland SE et al. | — | 2010 | → |
| Child and adolescent psychiatric genetics. | Hebebrand J et al. | — | 2010 | → |
| Distinct variants at LIN28B influence growth in height from birth to adulthood. | Widén E et al. | — | 2010 | → |
| Gene networks and the neuroendocrine regulation of puberty. | Ojeda SR et al. | — | 2010 | → |
| Genetic determinants of pubertal timing in the general population. | Gajdos ZK et al. | — | 2010 | → |
| Genetics basis for GnRH-dependent pubertal disorders in humans. | Silveira LF et al. | — | 2010 | → |
| Genome-wide association studies and beyond. | Witte JS | — | 2010 | → |
| Genome-wide association study of height and body mass index in Australian twin families. | Liu JZ et al. | — | 2010 | → |
| Identification of microRNAs regulating reprogramming factor LIN28 in embryonic stem cells and cancer cells. | Zhong X et al. | — | 2010 | → |
| Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. | Zhu H et al. | — | 2010 | → |
| miRNAs give worms the time of their lives: small RNAs and temporal control in Caenorhabditis elegans. | Resnick TD et al. | — | 2010 | → |
| Photocatalytic formation of I-I bonds using DNA which enables detection of single nucleotide polymorphisms. | Kawai K et al. | — | 2010 | → |
| The pursuit of genome-wide association studies: where are we now? | Ku CS et al. | — | 2010 | → |
| The transcriptional control of female puberty. | Ojeda SR et al. | — | 2010 | → |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. | Elks CE et al. | — | 2010 | → |
| Genetics of reproductive lifespan. | Hartge P | — | 2009 | → |
| Lin28 recruits the TUTase Zcchc11 to inhibit let-7 maturation in mouse embryonic stem cells. | Hagan JP et al. | — | 2009 | → |