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Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.

Abstract：

:The ratio of the length of the index finger to that of the ring finger (2D:4D) is sexually dimorphic and is commonly used as a non-invasive biomarker of prenatal androgen exposure. Most association studies of 2D:4D ratio with a diverse range of sex-specific traits have typically involved small sample sizes and have been difficult to replicate, raising questions around the utility and precise meaning of the measure. In the largest genome-wide association meta-analysis of 2D:4D ratio to date (N = 15 661, with replication N = 75 821), we identified 11 loci (9 novel) explaining 3.8% of the variance in mean 2D:4D ratio. We also found weak evidence for association (β = 0.06; P = 0.02) between 2D:4D ratio and sensitivity to testosterone [length of the CAG microsatellite repeat in the androgen receptor (AR) gene] in females only. Furthermore, genetic variants associated with (adult) testosterone levels and/or sex hormone-binding globulin were not associated with 2D:4D ratio in our sample. Although we were unable to find strong evidence from our genetic study to support the hypothesis that 2D:4D ratio is a direct biomarker of prenatal exposure to androgens in healthy individuals, our findings do not explicitly exclude this possibility, and pathways involving testosterone may become apparent as the size of the discovery sample increases further. Our findings provide new insight into the underlying biology shaping 2D:4D variation in the general population.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Warrington NM,Shevroja E,Hemani G,Hysi PG,Jiang Y,Auton A,Boer CG,Mangino M,Wang CA,Kemp JP,McMahon G,Medina-Gomez C,Hickey M,Trajanoska K,Wolke D,Ikram MA,23andMe Research Team.,Montgomery GW,Felix JF,Wright MJ,M

doi

10.1093/hmg/ddy121

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

2025-2038

issue

11

eissn

0964-6906

issn

1460-2083

pii

4969373

journal_volume

27

pub_type

杂志文章,meta分析

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