Stead-state sex steroid concentrations in the circulations show significant inter-individual variations within and across populations. Such variations are also associated with predisposition to various diseases. Genetic polymorphisms in genes encoding enzymes in the biosynthesis and metabolism pathways of sex hormones are likely to account for such inter-individual variations. In this study of over 1400 Chinese men, single nucleotide polyporphisms (SNPs) of candidate genes involved in sex steroid metabolic pathway were investigated for their association with blood androgens concentrations. We found that blood androgen concentrations correlated with SNPs in SRD5A1 and AKR1C4 genes. The genotype of rs11738248 in SRD5A1 was significantly associated with circulating dihydrotestosterone(DHT) to testosterone (T) ratio while the C-T-T haplotype on SRD5A1 could be a predictor for low DHT level. As for AKR1C4, it was found that the genotype rs17134607 was associated with androsterone level in a linear regression model. In addition, it was also observed that the G-A haplotype could be a risk haplotype for high androsterone level. This chapter is the first to reveal the potential association between circulating androgen levels and the genetic variations in SRD5A1 and AKR1C4 in a large cohort of healthy general population. Future studies may examine their underlying functional genetic elements that affected the sex steroid level in blood and their potential association with diseases.
|Original language||English (US)|
|Title of host publication||Testosterone|
|Subtitle of host publication||Biochemistry, Therapeutic Uses and Physiological Effects|
|Publisher||Nova Science Publishers, Inc.|
|Number of pages||12|
|State||Published - Jan 1 2012|
ASJC Scopus subject areas