• PMID: 21429951
• Gene Name: CYP1A1
• Condition: Spermatogenesis defects
• Association: Five genes (rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene) were found to be significantly associated with sperm c
• Mutation: rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene
• Population size: 677
• Population details: 677 (10 fertile men, 467 infertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ER-?, ER-?, CYP19A1, HSD17B1, CYP1A1, CYP1B1, COMT, GSTM1, GSTT1, SHBG
• Other associated phenotypes: Spermatogenesis defects

Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility

Lee IW, Kuo PH, Su MT, Kuan LC, Hsu CC, Kuo PL.

BACKGROUND: Human spermatogenesis is regulated by complex networks, and estrogens are recognized as one of the significant regulators of spermatogenesis. We tested the associations between variants of estrogen-related genes and semen parameters. METHODS: We performed genotyping for genetic variants of estrogen-related genes and quantitative trait analysis of fertile and infertile men with well-characterized reproductive phenotypes. Men with known semen parameters (n= 677) were enrolled, including 210 fertile men and 467 infertile men. A total of 17 genetic markers from 10 genes, including 2 estrogen receptors (ER-α, ER-β), 7 estrogen synthesizing/metabolizing genes (CYP19A1, HSD17B1, CYP1A1, CYP1B1, COMT, GSTM1, GSTT1) and 1 transport gene (SHBG) were genotyped. Sperm concentration, motility and morphology were taken as quantitative traits to correlate with genetic variants in the estrogen-related genes. RESULTS: Five genes (rs1801132 and rs2228480 of the ER-α gene, rs1256049 and rs4986938 of the ER-β gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene) were found to be significantly associated with sperm concentration (P< 0.01), while five genes (rs1801132 of the ER-a gene, rs1256049 of the ER-β gene, rs1048943 of the CYP1A1 gene, rs605059 of the HSD17B1 gene and rs1799941 along with rs6259 of the SHBG gene) were associated with sperm motility (P< 0.01). None of the estrogen-related genes were associated with sperm morphology. With an increasing number of risk alleles, sperm concentration and motility tended to deteriorate and show a loci-dosage effect. CONCLUSIONS: Quantitative trait analysis based on a limited number of genetic markers suggests that estrogen-related genes mainly regulate sperm concentration and motility. FAU - Lee, I-Wen AU - Lee IW AD - Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, Tainan, Taiwan. FAU - Kuo, Po-Hsiu AU - Kuo PH FAU - Su, Mei-Tsz AU - Su MT FAU - Kuan, Long-Ching AU - Kuan LC FAU - Hsu, Chao-Chin AU - Hsu CC