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 1/42,000, 1/43,700 and 1/49,500 SNPs explained 1/421%, 1/424% and 1/429% 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/I 2-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.

New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

"A Concert in Swing"; The Concert Band, The Pep Band, November 29, 1939

Concert program for "A Concert in Swing"; The Concert Band, The Pep Band, November 29, 1939

Mary Pickford et Douglas Fairbanks arrivent à Southampton : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59805

Mary Pickford et Douglas Fairbanks à Londres [voyage de noces en Europe, juin 1920] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59870

[20/7/20] Mary Pickford et Douglas Fairbanks à Paris : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 60146

[20/7/20, Mary Pickford et Douglas Fairbanks aux Halles de Paris] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 60148

Charles C. Chapman's birthday celebration, Fullerton, California,1932

Family portrait taken at Charles C. Chapman's birthday celebration, Fullerton, California,July 2, 1932. The group poses outside his residence on the lawn. Top row [left to right]: Arthur Irvin, Charles Wickett, Irvin Chapman, Sam Collins, Paul Williams, Grant Chapman,, Sidney Chapman, Clay McCarn, Earl Chapman's son David McDougal, Earl Chapman's son William McDougal, Earl Chapman, Harry Chapman, William Wickett Sr. Second row [left to right]: Mr. VanMeter, Mrs. Sinclair, C. C. Sinclair, John Franklin, Way Bagley, Marjorie Collins, Emma Williams, Ruth Chapman, Vesta Chapman, Inez Bagley, Grace Chapman, Bertha Chapman, Clough Chapman, Frank and Bertha Chapman's daughter Agnes McDougal [Streech], Georgiana Chapman, Thela Clough, Mrs. Earl [Ann] Chapman, Bessie Reynolds, Fred Chapman, E. B. [Bert] Reynolds. Seated [left to right]: Mrs. VanMeter, Hattie Clark, Louie Messlar, Charlie Thamer, Louella Thamer, Dolla Harris, Stanley Chapman Sr. holding Mary Anne, Ethel Wickett, Charles C. Chapman, Clara Chapman, Colum C. Chapman, Aunt Annie Colum, Deryth Chapman, Anna Marie Chapman, Floy Chapman, Edith Chapman. Front row [left to right]: Sam E. Collins, Bill Wickett Jr., Joyce Chapman, Marilyn Chapman, Elizabeth Chapman, Mary McCarn, Nina Chapman Lescher, Jodeane Collins, Bob Gibb, Jean Chapman. In front is a floral arrangement with drawing of a Western Union telegram "To Chas. C. Chapman, July 2, 1932, N. Fullerton, Cal., 'Wishing you a happy birthday, Nina."

Rick Bell Family fonds, 1874-1875, 1879, 1884, 1886, 1888-1889, 1896, 1898, 1909-1910, 1939, 1945, n.d.

Lewis Tyrell married Jane Gains on August 31, 1849 in Culpeper Court House, Virginia. Jane Gains was a spinster. Lewis Tyrell died September 25, 1908 at his late residence, Vine St. and Welland Ave., St. Catharines, Ont. at the age of 81 years, 5 months. Jane Tyrell died March 1, 1886, age 64 years. Their son? William C. Tyrell died January 15, 1898, by accident in Albany, NY, age 33 years, 3 months. John William Taylor married Susan Jones were married in St. Catharines, Ont. on August 10, 1851 by William Wilkinson, a Baptist minister. On August 9, 1894 Charles Henry Bell (1871-1916), son of Stephen (1835?-1876) and Susan Bell, married Mary E. Tyrell (b. 1869?) daughter of Lewis and Alice Tyrell, in St. Catharines Ontario. By 1895 the Bell’s were living in Erie, Pennsylvania where children Delbert Otto (b. 1895) and Edna Beatrice (b. 1897) were born. By 1897 the family was back in St. Catharines where children Lewis Tyrell (b. 1899), Gertrude Cora (b. 1901), Bessie Jane (b. 1902), Charles Henry (b. 1906), Richard Nelson (b. 1911) and William Willoughby (b. 1912) were born. Charles Henry Bell operated a coal and ice business on Geneva Street. In the 1901 Census for St. Catharines, the Bell family includes the lodger Charles Henry Hall. Charles Henry Hall was born ca. 1824 in Maryland, he died in St. Catharines on November 11, 1916 at the age of 92. On October 24, 1889 Charles Hall married Susan Bell (1829-1898). The 1911 Census of Canada records Charles Henry Hall residing in the same household as Charles Henry and Mary Bell. The relationship to the householder is step-father. It is likely that after Stephen Bell’s death in 1876, his widow, Susan Bell married Hall. In 1939, Richard Nelson Bell, son of Charles Henry and Mary Tyrell Bell, married Iris Sloman. Iris (b. 22 May 1912 in Biddulph Township, Middlesex, Ontario) was the daughter of Albert (son of Joseph b. 1870 and Elizabeth Sloman, b. 1872) and Josie (Josephine Ellen) Butler Sloman of London, Ont. Josie (b. 1891) was the daughter of Everett Richard and Elizabeth McCarthy (or McCarty) Butler, of Lucan Village, Middlesex North. According to the 1911 Census of Canada, Albert, a Methodist, was a porter on the railroad. His wife, Josephine, was a Roman Catholic. Residing with Albert and Josie were Sanford and Sadie Butler and Sidney Sloman, likely siblings of Albert and Josephine. The Butler family is descended from Peter Butler, a former slave, who had settled in the Wilberforce Colony in the 1830s. Rick Bell b. 1949 in Niagara Falls, Ont. is the son of Richard Nelson Bell. In 1979, after working seven years as an orderly at the St. Catharines General Hospital while also attending night school at Niagara College, Rick Bell was hired by the Thorold Fire Dept. He became the first Black professional firefighter in Niagara. He is a founding member of the St. Catharines Junior Symphony; attended the Banff School of Fine Arts in 1966 and also performed with the Lincoln & Welland Regimental Band and several other popular local groups. Upon the discovery of this rich archive in his mothers’ attic he became passionate about sharing his Black ancestry and the contributions of fugitive slaves to the heritage Niagara with local school children. He currently resides in London, Ont.

Bell - Sloman Wedding Day Photo, 1939

This photograph was taken on the wedding day of Richard Nelson Bell and Iris Sloman in 1939. Pictured in the photograph, from left, are: Charles Bell, father of Richard Nelson Bell; Josephine Sloman, mother of Iris; Richard Nelson Bell; Iris Sloman Bell; Mary Bell, mother of Richard Nelson Bell; and Albert Sloman, father of Iris. This family photo was in the possession of Rick Bell, of St. Catharines, Ontario. The Sloman - Bell ancestry includes escaped Black slaves from the United States.

Why they kill : criminal etiologies in Mary Shelley's Frankenstein, R.L. Stevenson's Strange case of Dr Jekyll and Mr Hyde, and Oscar Wilde's The picture of Dorian Gray

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal