TY - JOUR
T1 - Quantitative trait analysis suggests human DAZL may be involved in regulating sperm counts and motility
AU - Hsu, Chao Chin
AU - Kuo, Po Hsiu
AU - Lee, I. Wen
AU - Su, Mei Tsz
AU - Tseng, Joseph T.
AU - Kuo, Pao Lin
N1 - Funding Information:
This work was supported by Grants from the National Science Council of Taiwan, ROC ( NSC-95–2314-B-006–031-MY2 and NSC-97–2628-B-006–012-MY3 ).
PY - 2010/7
Y1 - 2010/7
N2 - A prospective study was carried out to identify the association of the DAZL (deleted in azoospermia-like) gene with major semen parameters in 210 men with normal and 467 men with abnormal semen parameters. Primer extension analysis for single nucleotide polymorphisms (SNP) of DAZL and quantitative trait analysis on the association of allele/genotype frequencies, linkage disequilibrium characteristics and DAZL haplotypes with semen parameters were investigated. Of five SNP (260A→G, 386A→G, 520+34c→a, 584+28c→t and 796+36g→a) screened, 386A→G was significantly correlated with sperm count (P < 0.0001) and motility (P < 0.005) and 584+28c→t was marginally correlated with sperm morphology. After excluding 520+34c→a, which was not in the Hardy-Weinberg equilibrium, the major haplotypes consisted of four SNP. One haplotype (260A→G (major allele), 386A→G (major allele), 584+28c→t (minor allele) and 796+36g→a (major allele)) was significantly associated with sperm count (P = 0.003) and motility (P = 0.04). This study suggests DAZL may be involved in regulating sperm counts, motility and possibly morphology.
AB - A prospective study was carried out to identify the association of the DAZL (deleted in azoospermia-like) gene with major semen parameters in 210 men with normal and 467 men with abnormal semen parameters. Primer extension analysis for single nucleotide polymorphisms (SNP) of DAZL and quantitative trait analysis on the association of allele/genotype frequencies, linkage disequilibrium characteristics and DAZL haplotypes with semen parameters were investigated. Of five SNP (260A→G, 386A→G, 520+34c→a, 584+28c→t and 796+36g→a) screened, 386A→G was significantly correlated with sperm count (P < 0.0001) and motility (P < 0.005) and 584+28c→t was marginally correlated with sperm morphology. After excluding 520+34c→a, which was not in the Hardy-Weinberg equilibrium, the major haplotypes consisted of four SNP. One haplotype (260A→G (major allele), 386A→G (major allele), 584+28c→t (minor allele) and 796+36g→a (major allele)) was significantly associated with sperm count (P = 0.003) and motility (P = 0.04). This study suggests DAZL may be involved in regulating sperm counts, motility and possibly morphology.
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U2 - 10.1016/j.rbmo.2010.03.026
DO - 10.1016/j.rbmo.2010.03.026
M3 - Article
C2 - 20462796
AN - SCOPUS:78650177871
SN - 1472-6483
VL - 21
SP - 77
EP - 83
JO - Reproductive BioMedicine Online
JF - Reproductive BioMedicine Online
IS - 1
ER -