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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-po...

Rossi, Niccolò; Syed, Najeeb; Visconti, Alessia; Aliyev, Elbay; Berry, Sarah; Bourbon, Mafalda; Spector, Tim D.; Hysi, Pirro G.; Fakhro, Khalid A.

Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic...


New polygenic risk score to predict high myopia in Singapore Chinese children

Lança, Carla; Kassam, Irfahan; Patasova, Karina; Foo, Li-Lian; Li, Jonathan; Ang, Marcus; Hoang, Quan V.; Teo, Yik-Ying; Hysi, Pirro G.; Saw, Seang-Mei

Purpose: The purpose of this study was to develop an Asian polygenic risk score (PRS) to predict high myopia (HM) in Chinese children in the Singapore Cohort of Risk factors for Myopia (SCORM) cohort. Methods: We included children followed from 6 to 11 years old until teenage years (12–18 years old). Cycloplegic autorefraction, ultrasound biometry, Illumina HumanHap 550, or 550 Duo Beadarrays, demographics, and...


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