Publications by Year: In Press

In Press
Asgari S, Luo Y, Belbin GM, Bartell E, Calderon R, Slowikowski K, Contreras C, Yataco R, Galea JT, Jimenez J, Coit JM, Farroñay C, Nazarian RM, O’Connor TD, Dietz HC, Hirschhorn J, Guio H, Lecca L, Kenny EE, Freeman E, Murray MB, Raychaudhuri S. A positively selected, common, missense variant in FBN1 confers a 2.2 centimeter reduction of height in the Peruvian population [Internet]. Nature In Press; PreprintAbstract
Peruvians are among the shortest people in the world. To understand the genetic basis of short stature in Peru, we examined an ethnically diverse group of Peruvians and identified a novel, population-specific, missense variant in FBN1 (E1297G) that is significantly associated with lower height in the Peruvian population. Each copy of the minor allele (frequency = 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals). This is the largest effect size known for a common height-associated variant. This variant shows strong evidence of positive selection within the Peruvian population and is significantly more frequent in Native American populations from coastal regions of Peru compared to populations from the Andes or the Amazon, suggesting that short stature in Peruvians is the result of adaptation to the coastal environment.One Sentence Summary A mutation found in Peruvians has the largest known effect on height for a common variant. This variant is specific to Native American ancestry.
Wei K#, Korsunsky I#, Marshall JL, Gao A, Watts GFM, Major T, Croft AP, Watts J, Blazar P, Lange J, Thornhill T, Filer A, Raza K, Donlin LT, Accelerating Medicines Partnership-Rheumatoid arthritis/Systemic Lupus Erythematosus (AMP RA/SLE), Siebel CW, Buckley CD, Raychaudhuri S*, Brenner* MB. Synovial fibroblast positional identity controlled by inductive Notch signaling underlies pathologic damage in inflammatory arthritis. Nature In Press;