Distinct variants at LIN28B influence growth in height from birth to adulthood.

We have studied the largely unknown genetic underpinnings of height growth by using a unique resource of longitudinal childhood height data available in Finnish population cohorts. After applying GWAS mapping of potential genes influencing pubertal height growth followed by further characterization of the genetic effects on complete postnatal growth trajectories, we have identified strong association between variants near LIN28B and pubertal growth (rs7759938; female p = 4.0 x 10(-9), male p = 1.5 x 10(-4), combined p = 5.0 x 10(-11), n = 5038). Analysis of growth during early puberty confirmed an effect on the timing of the growth spurt. Correlated SNPs have previously been implicated as influencing both adult stature and age at menarche, the same alleles associating with taller height and later age of menarche in other studies as with later pubertal growth here. Additionally, a partially correlated LIN28B SNP, rs314277, has been associated previously with final height. Testing both rs7759938 and rs314277 (pairwise r(2) = 0.29) for independent effects on postnatal growth in 8903 subjects indicated that the pubertal timing-associated marker rs7759938 affects prepubertal growth in females (p = 7 x 10(-5)) and final height in males (p = 5 x 10(-4)), whereas rs314277 has sex-specific effects on growth (p for interaction = 0.005) that were distinct from those observed at rs7759938. In conclusion, partially correlated variants at LIN28B tag distinctive, complex, and sex-specific height-growth-regulating effects, influencing the entire period of postnatal growth. These findings imply a critical role for LIN28B in the regulation of human growth.

[1]  M. Daly,et al.  Common body mass index-associated variants confer risk of extreme obesity. , 2009, Human molecular genetics.

[2]  J. Karlberg,et al.  Critical growth phases for adult shortness. , 2000, American journal of epidemiology.

[3]  Ryan D. Hernandez,et al.  Natural selection on protein-coding genes in the human genome , 2005, Nature.

[4]  C. Gieger,et al.  Identification of ten loci associated with height highlights new biological pathways in human growth , 2008, Nature Genetics.

[5]  T. Cole,et al.  The impact of childhood body mass index on timing of puberty, adult stature and obesity: a follow-up study based on adolescent anthropometry recorded at Christ's Hospital (1936–1964) , 2006, International Journal of Obesity.

[6]  G. Davey Smith,et al.  Childhood growth and adult cancer. , 2002, Best practice & research. Clinical endocrinology & metabolism.

[7]  J. Kaprio,et al.  Genetic regulation of growth from birth to 18 years of age: The Swedish young male twins study , 2008, American journal of human biology : the official journal of the Human Biology Council.

[8]  E. Demerath,et al.  Meta-analysis of genome-wide association data identifies two loci influencing age at menarche , 2009, Nature Genetics.

[9]  Christian Gieger,et al.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation , 2009, Nature Genetics.

[10]  M. Lahr,et al.  Life history trade-offs explain the evolution of human pygmies , 2007, Proceedings of the National Academy of Sciences.

[11]  J. Kere,et al.  Genomic landscape of positive natural selection in Northern European populations , 2010, European Journal of Human Genetics.

[12]  C. Farquharson,et al.  The role of sex steroids in controlling pubertal growth , 2008, Clinical endocrinology.

[13]  G. Perry,et al.  Evolution of the human pygmy phenotype. , 2009, Trends in ecology & evolution.

[14]  J. Eriksson,et al.  Early growth and coronary heart disease in later life: longitudinal study , 2001, BMJ : British Medical Journal.

[15]  Joseph K. Pickrell,et al.  Signals of recent positive selection in a worldwide sample of human populations. , 2009, Genome research.

[16]  Bjarni V. Halldórsson,et al.  Many sequence variants affecting diversity of adult human height , 2008, Nature Genetics.

[17]  Deborah A Nickerson,et al.  Genomic regions exhibiting positive selection identified from dense genotype data. , 2005, Genome research.

[18]  J. Eriksson,et al.  Body mass index during childhood and adult body composition in men and women aged 56-70 y. , 2008, The American journal of clinical nutrition.

[19]  S. Fischbein Intra-pair similarity in physical growth of monozygotic and of dizygotic twins during puberty. , 1977, Annals of human biology.

[20]  D. Strachan,et al.  Genetic variation in LIN28B is associated with the timing of puberty. , 2009, Nature genetics.

[21]  Risto Telama,et al.  Cohort profile: the cardiovascular risk in Young Finns Study. , 2008, International journal of epidemiology.

[22]  C. Hoggart,et al.  Genome-wide association analysis of metabolic traits in a birth cohort from a founder population , 2008, Nature Genetics.

[23]  T. Frayling,et al.  Reaching new heights: insights into the genetics of human stature. , 2008, Trends in Genetics.

[24]  D. Lawlor,et al.  Association of age at menarche with cardiovascular risk factors, vascular structure, and function in adulthood: the Cardiovascular Risk in Young Finns study. , 2008, The American journal of clinical nutrition.

[25]  P. Ridker,et al.  Genome-wide association studies identify novel loci associated with age at menarche and age at natural menopause , 2009, Nature Genetics.

[26]  M. Järvelin,et al.  Family social class, maternal body mass index, childhood body mass index, and age at menarche as predictors of adult obesity. , 2001, The American journal of clinical nutrition.

[27]  D. Gudbjartsson,et al.  Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche , 2009, Nature Genetics.

[28]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[29]  J. Sharma The genetic contribution to pubertal growth and development studied by longitudinal growth data on twins. , 1983, Annals of human biology.

[30]  Pardis C Sabeti,et al.  Genome-wide detection and characterization of positive selection in human populations , 2007, Nature.

[31]  Qing He,et al.  BMI in Childhood and Its Association with Height Gain, Timing of Puberty, and Final Height , 2001, Pediatric Research.

[32]  S. Heistaro Methodology report : Health 2000 survey , 2008 .

[33]  J. Kaprio,et al.  Genetic and environmental influences on pubertal timing assessed by height growth , 2008, American journal of human biology : the official journal of the Human Biology Council.

[34]  M. McCarthy,et al.  Metabolic cardiovascular disease risk factors in women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study. , 2004, The Journal of clinical endocrinology and metabolism.

[35]  Ellen Kampman,et al.  Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity , 2009, Nature Genetics.

[36]  G. Lettre,et al.  Genetic regulation of adult stature , 2009, Current opinion in pediatrics.

[37]  J. Kaprio,et al.  Common genetic influences on BMI and age at menarche. , 1995, Human biology.

[38]  H. Bandelt,et al.  Median-joining networks for inferring intraspecific phylogenies. , 1999, Molecular biology and evolution.

[39]  E. Moss,et al.  Conservation of the heterochronic regulator Lin-28, its developmental expression and microRNA complementary sites. , 2003, Developmental biology.

[40]  M. Palmert,et al.  Variation in the timing of puberty: clinical spectrum and genetic investigation. , 2001, The Journal of clinical endocrinology and metabolism.