Family portrait with Alfred Lichtenstein, his first wife Gerda, unidentified others (maman, tante, oncle, soeur).

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Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.

Guttmann family portrait Portraits Couples

Abraham Guttmann and Feige Taube Guttmann nee Berlowitz with their children Noah, Helmut (Koffel), Sally (Steven), Heinz and Dorothea (Dola) and an unidentified young man

Ruth Augusta Beatrice Goldschmidt with her parents Paula Goldschmidt née Harmelin and Martin Goldschmidt, walking on the street outside the Richmond Park Hotel; Karlsbad Portraits Family

Paula Goldschmidt, née Harmelin, born 1880; Martin Goldschmidt, born circa 1879; Ruth Augusta Beatrice Goldschmidt, born 1923?

Studio portrait of the wood merchant Hermann Judey with his stepson Paul Portraits Family

Paul was the son from a previous marriage of Hermann's first wife Olga Judey nee Fischmann

Judey family playing cricket Portraits Family

l-r: Hermann (father), Mary (Miriam), Olga (mother), Lydia, Sina and Jacob

Studio portrait of Hermann (Lazar Hirsch) Judey, his father Joseph (Mitskun) Judey, and Hermann's cousin Vladimir (Valodya) Barosin seated around a chess table; Riga Portraits Family

Hermann (Lazar Hirsch) Judey, born 1878 Riga and died 1959 New York; Joseph (Mitskun) Judey, born 1854 Vilna and died 1931 Berlin

Henry Marx shining shoes to earn money for his family; Washington Heights, New York Portraits Children

Henry Marx was born in Michelstadt/Hessen and emigrated to New York with his family in early 1937 when he was nine years old. He went to school but also delivered newspapers and shined shoes to help his family financially as his father only worked whatever odd jobs he could during the war years. Going from store to store shining shoes on weekends was Henry's main source of income. He had to wake up early in order to reserve the spot shown in this photograph, competing with a father and two sons who traveled from Brooklyn to Washington Heights to shine shoes.

Exterior view of the Boehm family hat factory; Novy Jicin, Czech Republic Businesses

Tovarna na Klobouky Fv. Boehm

Erich Gustav Baum in the drivers seat of a car with his wife Grete nee Dublon and their daughter Ilse Baum in the back seat Portraits Family

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Ilse Baum's class portrait Portraits Family

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View of Muensterstrasse including Erich Gustav Baum's haberdashery store (Waesche Baum); Rheine i.W. Portraits Family

The shop was shut down by the Nazis several times during the 1930s

Grete Baum nee Dublon assisting a customer in her husband Erich Gustav Baum's haberdashery store (Waesche Baum); Muensterstrasse, Rheine i.W. Portraits Family

The shop was shut down by the Nazis several times during the 1930s