Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

Table 2 Genetic signals for VMS from primary GWAS analysis and secondary analyses of HRT proxy phenotypes

Analysis	Variant id	Chr:pos (b37)	EA/OA (EAF)	Phenotype^a	Effect (95% CI) per allele	P	Distance to nearest gene
Primary discovery	rs34867104	chr4:104561892	AT/A (0.055)	VMS	OR = 0.78 (0.74,0.82)	1.7 × 10^–20	TACR3 (0)
Meta-analyses^b	rs112390256	chr4:104575473	A/G (0.055)	VMS	OR = 0.76 (0.72,0.80)	3.7 × 10^–27	TACR3 (0)
Secondary discovery	rs34867104	chr4:104561892	AT/A (0.055)	Ever taken HRT	OR = 0.85 (0.82,0.87)	1.1 × 10^–26	TACR3 (0)
Secondary discovery	rs146705358	chr4:104579107	AGGAATGTGCACAT/A (0.036)	Age ended HRT	-0.07 (-0.1,-0.05)	2.8 × 10^–8	TACR3 (0)
Secondary discovery	rs200480420	chr6:135016903	A/AT (0.999)	Time taken HRT	-0.51 (-0.69,-0.33)	4.3 × 10^–8	LINC01010 (+ 191.7 kb)
Secondary discovery	rs7830431	chr8:10700317	G/A (0.597)	Age started HRT	0.03 (0.02,0.04)	2.9 × 10^–8	PINX1 (+2.9 kb)

Chr chromosome, CI confidence interval, EA effect allele, EAF effect allele frequency, HRT hormone replacement therapy, OA other allele, OR odds ratio, pos position, VMS vasomotor symptoms
^aUnits for age started, ended and time taken HRT are standard deviations of the inverse rank transformed phenotype
^bVariant rs112390256 represents the same genetic signal in TACR3 as that identified from the primary discovery analysis since it is in linkage disequilibrium with rs34867104 (LD r² = 0.99), which was not analysed in the earlier study

ISSN: 1755-8794