Multi-ancestry whole genome sequencing analysis of lean body mass

Table 3 Rare variants association results

Test gene name	Ensemble ID	Chr:Start–End (hg38)	Gene type	Trait	Sample size^D	p value^D	Adjusted p value^D	Count of rare variants (TOPMed/LOS/UKBB)	Sample size^R	p value^R
DMAC1^#	ENSG00000137038	Chr9:7,796,500–7,888,380	Protein coding	WB-LM	6260^F	5.33E − 07	1.20E − 02	1/12/1 (TOPMed freeze8 lofmissense variants)	590	0.9478
DMAC1^#	ENSG00000137038	Chr9:7,796,500–7,888,380	Protein coding	A-LM	6229^F	1.42E − 06	3.20E − 02	1/12/1 (TOPMed freeze8 lofmissense variants)	590	0.5781
ENSG00000273183^$	ENSG00000273183	Chr7:154,956,429–154,957,107	Antisense	A-LM	4443^M	6.49E − 07	2.20E − 02	1/24/6 (TOPMed freeze8 coding and noncoding variants)	525	0.2590

p value: statistical significance of the rare variants analyses for the test cohorts; adjusted p values: calculated using Bonferroni correction of the p values; count of rare variants (TOPMed/LOS/UKBB): number of functional rare variants per cohort, with functions annotated at the end of each entry; D: discovery cohort; R: replication cohort; F: test cohort includes only females from TOPMed + LOS. M: test cohort includes only males from TOPMed + LOS. #: predicted potential function as a distal membrane arm assembly component 1 [source: HUGO Gene Nomenclature Committee (HGNC) symbol; Acc: HGNC:30536]. $: predicted potential function as an antisense to PAXIP1

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