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

Oleh:

I.-Wen, Lee ; Po-Hsiu, Kuo ; Mei-Tsz, Su ; Long-Ching, Kuan ; Chao-Chin, Hsu ; Pao-Lin, Kuo

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Human Reproduction vol. 26 no. 06 (Jun. 2011), page 1585-1596.
Topik: SPERMATOGENESIS; Estrogen-related genes; quantitative trait analysis; semen parameters; single nucleotide polymorphism

Ketersediaan

Perpustakaan FK Nomor Panggil: H07.K.2011.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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-a, ER-ß), 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-a gene, rs1256049 and rs4986938 of the ER-ß 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-ß 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.

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