Genetic variants of liver-localized SRD5A1 and AKR1C4 genes associated with circulating sex steroid levels

Chen Di Liao, Jieying Jiang, Nelson L.S. Tang, Timothy C.Y. Kwok, Xingyan Wang, Claes Ohlsson, Anna L. Eriksson, Liesbeth Vandenput, Frank W.K. Chan, Anthony Kwok, Eric Orwoll, Jean Woo, Ping Chung Leung

Research output: Chapter in Book/Report/Conference proceedingChapter


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 languageEnglish (US)
Title of host publicationTestosterone
Subtitle of host publicationBiochemistry, Therapeutic Uses and Physiological Effects
PublisherNova Science Publishers, Inc.
Number of pages12
ISBN (Print)9781621004929
StatePublished - 2012

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'Genetic variants of liver-localized SRD5A1 and AKR1C4 genes associated with circulating sex steroid levels'. Together they form a unique fingerprint.

Cite this