Common variants in the GDF5-UQCC region are associated with variation in human height Article Swipe

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Serena Sanna , Anne Jackson , Ramaiah Nagaraja , Cristen J. Willer , Wei‐Min Chen , Lori L. Bonnycastle , Haiqing Shen , Nicholas J. Timpson , Guillaume Lettre , Gianluca Usala , Peter S. Chines , Heather M. Stringham , Laura J. Scott , Mariano Dei , Sandra Lai , Giuseppe Albai , Laura Crisponi , Silvia Naitza , Kimberly F. Doheny , Elizabeth Pugh , Yoav Ben‐Shlomo , Shah Ebrahim , Debbie A. Lawlor , Richard N. Bergman , Richard M. Watanabe , Manuela Uda , Jaakko Tuomilehto , Josef Coresh , Joel N. Hirschhorn , Alan R. Shuldiner , David Schlessinger , Francis S. Collins ·

YOU? · · 2020 · Open Access · · DOI: https://doi.org/10.17615/th6f-r873

Identifying genetic variants that influence human height will further our understanding of skeletal growth and development. A number of rare genetic variants have been convincingly and reproducibly associated with height in Mendelian syndromes, and common variants in HMGA2 were recently found to be associated with variation in height in the general population1. Here, we report genome-wide association analyses of 6,669 individuals from Finland and Sardinia, using genotyped and imputed markers, and follow-up in an additional 28,801 individuals. We show that common variants in the osteoarthritis-associated2GDF5-BFZB locus are responsible for variation in height (estimated additive effect of 0.44 cm, overall p<10−15). Our results suggest a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development.

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Variation (astronomy) Geography Biology Evolutionary biology Physics Astrophysics

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Type: article
Language: en
Landing Page: https://doi.org/10.17615/th6f-r873
OA Status: green
Related Works: 10
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DOI: https://doi.org/10.17615/th6f-r873

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Title: Common variants in the GDF5-UQCC region are associated with variation in human height

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Language: en

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Publication year: 2020

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Publication date: 2020-11-06

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Authors: Serena Sanna, Anne Jackson, Ramaiah Nagaraja, Cristen J. Willer, Wei‐Min Chen, Lori L. Bonnycastle, Haiqing Shen, Nicholas J. Timpson, Guillaume Lettre, Gianluca Usala, Peter S. Chines, Heather M. Stringham, Laura J. Scott, Mariano Dei, Sandra Lai, Giuseppe Albai, Laura Crisponi, Silvia Naitza, Kimberly F. Doheny, Elizabeth Pugh, Yoav Ben‐Shlomo, Shah Ebrahim, Debbie A. Lawlor, Richard N. Bergman, Richard M. Watanabe, Manuela Uda, Jaakko Tuomilehto, Josef Coresh, Joel N. Hirschhorn, Alan R. Shuldiner, David Schlessinger, Francis S. Collins

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Landing page: https://doi.org/10.17615/th6f-r873

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Concepts: Variation (astronomy), Geography, Biology, Evolutionary biology, Physics, Astrophysics

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abstract_inverted_index.recently	39
abstract_inverted_index.skeletal	12
abstract_inverted_index.variants	2, 21, 35, 81
abstract_inverted_index.Mendelian	31
abstract_inverted_index.Sardinia,	64
abstract_inverted_index.follow-up	71
abstract_inverted_index.genotyped	66
abstract_inverted_index.influence	4
abstract_inverted_index.variation	45, 89
abstract_inverted_index.(estimated	92
abstract_inverted_index.additional	74
abstract_inverted_index.associated	27, 43
abstract_inverted_index.syndromes,	32
abstract_inverted_index.Identifying	0
abstract_inverted_index.alterations	116
abstract_inverted_index.association	56
abstract_inverted_index.genome-wide	55
abstract_inverted_index.individuals	60
abstract_inverted_index.p<10−15).	99
abstract_inverted_index.potentially	113
abstract_inverted_index.responsible	87
abstract_inverted_index.convincingly	24
abstract_inverted_index.development.	15, 121
abstract_inverted_index.individuals.	76
abstract_inverted_index.population1.	51
abstract_inverted_index.reproducibly	26
abstract_inverted_index.understanding	10
abstract_inverted_index.osteoarthritis,	112
abstract_inverted_index.osteoarthritis-associated2GDF5-BFZB	84
cited_by_percentile_year
countries_distinct_count	0
institutions_distinct_count	32
sustainable_development_goals[0].id	https://metadata.un.org/sdg/2
sustainable_development_goals[0].score	0.4699999988079071
sustainable_development_goals[0].display_name	Zero hunger
citation_normalized_percentile.value	0.37778609
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False