Relationship of digit ratio with sexual steroid hormone receptor related genes - single nucleotide polymorphisms in a sample from Northern China

Abstract

Background Digit ratio, especially 2D:4D, is hypothesised as a potential biological marker of exposure to intrauterine sex hormones. The aim of this study was to investigate the association between 10 SNPs of sex steroid hormone receptor (SSHR) related genes and 2D:4D. Subjects and methods 814 college students were randomly selected as research participants. After taking pictures of both hands of the participants, Image Pro Plus (IPP) software was used to measure 2D:4D. ESR1 (rs2228480 and rs3798758), ESR2 (rs944459, rs8006145, rs928554, and rs8018687), GPER1 (rs10269151 and rs12702047), and PGR (rs1042839 and rs500760) were genotyped using multiplex PCR. Results Females had significantly higher 2D:4D in both hands than male students (p < 0.05), and the R2D:4D of the Han population was significantly higher than that of the Hui population (p < 0.05). The number of females carrying the GPER1 G allele of rs12702047 was significantly higher than that of males (p < 0.05). The L2D:4D in males was significantly different in rs1042839, and the R2D:4D in the Han ethnicity was significantly different in rs3798758. Logistic regression analysis showed that rs12702047 was significantly associated with 2D:4D in both hands (p < 0.05). Conclusions GPER1 rs12702047 may be involved in the formation of digit ratio by affecting phalanx development in the Chinese population.

Keywords

• sex steroid hormone receptor
• digit ratio
• snp
• foetal development