Estrogen receptor 1 promoter polymorphism and digit ratio in men

Abstract

Our results suggest that a significant amount of left hand 2D:4D variation and aggressive behavior is due to this variation in ESR1, and that some of the correlation between digit ratio and social behavior is due to pleiotropic effects of ESR1 variation on the two traits.

Inbreeding is associated with lower 2D: 4D digit ratio

“…A SNP in LIN28B identified in a genome-wide association study by Medland et al (2010) did not replicate with statistical significance in a following study (Lawrance-Owen et al, 2013). Other significant associations with genetic variants, SMOC1 identified through a GWAS (LawranceOwen et al, 2013) and a microsatalite in estrogen receptor 1 alpha (Vaillancourt et al, 2012) remain unreplicated. In any case, the effect sizes found in these studies are so many times smaller than the inbreeding effect seen on digit ratio, making it unlikely that the effect is due to these few genes.…”

“…Genetic contributions to variation in 2D : 4D are consistently found to be stronger on the left hand than the right (Gobrogge et al, 2008;Medland and Loehlin, 2008;Paul et al, 2006;Vaillancourt et al, 2012; but see Voracek and Dressler, 2009), while sex differences in digit ratio are consistently found to be stronger on the right hand than the left (H€ onekopp and Watson, 2010), as are correlations with behavioral variation (Breedlove, 2010). That the post-hoc analyses found significant effects for both men and women on the right hand, but not the left, would seem to suggest that genetics effects, perhaps due to increased expression of recessive alleles, are not as important as whatever fetal environment effects may be in play.…”

Is There a Rationale behind Pharmacotherapy in Idiopathic Gynecomastia?

“…Further studies on idiopathic gynecomastia could also include ER and PR gene polymorphisms. Vaillancourt et al [20] found that digit ratio seemed to be influenced by the number of TA repeats in the ER1 promoters. A significant positive correlation was found for the left 2D: 4D ratio, but not for the right one.…”

Analysis of different sources of measurement error in determining second-to-fourth digit ratio, a potential indicator of perinatal sex hormones exposure

“…However, this difference is not large (d = .28-.35) and smaller than the difference in prenatal testosterone levels (d = 1.4; Hönekopp & Watson, 2010). It has been additionally observed that a significant part of prenatal digit development occurs when testosterone is at one of its peak levels (Vaillancourt, Dinsdale, & Hurd, 2012), and the relation of sex hormones and bone growth has already been established in research on mammals (Kondo, Zákány, Innis, & Duboule, 1997). A stronger evidence for the use of 2D:4D as indicator of organisational effects is the reported negative correlation of right-hand 2D:4D to the ratio of testosterone and oestrogen in the amniotic fluid (r 2 ~ .20; Lutchmaya et al, 2004).…”

“…Additive genetic effects on 2D:4D explain about 60% of variance, while non-shared environmental effects, which include different prenatal environment, explain 20-50% of 2D:4D variation across persons (Gobrogge, Breedlove, & Klump, 2008;Voracek & Dressler, 2009). Different gene polymorphisms have been suggested and considered as candidate gene for 2D:4D, namely polymorphisms in or close to the SMOC1, TA polymorphism in ESR1, and CAG/GGN repeat polymorphisms in AR (Lawrance- Owen et al, 2013;Vaillancourt et al, 2012;Zhang et al, 2013, respectively). Research on mice has shown that sex-organs and digits development are influenced by same genes: HoxA and HoxD (Kondo et al, 1997).…”