Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility

• Published in: Molecular biology reports Vol. 36; no. 7; pp. 1709 - 1714
• Main Authors: Gunel-Ozcan, Aysen, Basar, M. Murad, Kısa, Ucler, Ankaralı, Handan C
• Format: Journal Article
• Language: English
• Published: Dordrecht Dordrecht : Springer Netherlands 01-09-2009; Springer Netherlands; Springer Nature B.V
• Subjects: Adolescent; Adult; Age; Age Distribution; Amino Acid Substitution - genetics; Animal Anatomy; Animal Biochemistry; Aspartic Acid - genetics; Biomedical and Life Sciences; Diabetes mellitus; Follicle-stimulating hormone; Follicles; Gene frequency; Genetic Predisposition to Disease; Genotype; Hemochromatosis Protein; Histidine - genetics; Histocompatibility Antigens Class I - genetics; Histology; Hormones; Humans; Infertility; Infertility, Male - genetics; Life Sciences; Luteinizing hormone; Male; Membrane Proteins - genetics; Men; Molecular biology; Morphology; Motility; Mutation; Mutation - genetics; Risk factors; Sickle cell disease; Sperm; Sperm Motility - genetics; Testes; Testosterone; Y chromosome; H63D mutation; Infertility
• DOI: 10.1007/s11033-008-9372-7
• EISSN: 1573-4978
• ISSN: 0301-4851

The aim of this study was to screen infertile men for HFE H63D mutation in correlation with clinical characteristics of infertile men (sperm concentration, sperm motility, morphology, testicular volume, Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH) and total Testosterone levels) and find out if the HFE H63D mutation has an effect on male infertility. After excluding hormonal treatment, any scrotal pathology, having any systemic diseases such as diabetes mellitus, sickle cell anemia and microdeletions of the Y chromosome, a total of 148 infertile men with age range between 17 and 52-years-old (average age 29.6 ± 7.2) were enrolled into the study. Our analysis indicates that the mean FSH levels are significantly higher (6.3 ± 4.6 mIU/ml, P = 0.03), whereas sperm motility is significantly lower (36.6 ± 28.1%, P = 0.01) in the infertile men with the HFE H63D mutation compared with subjects lacking this mutation. Comparison of allele frequencies of the infertile men with Ts < 50% versus the infertile men with Ts > 50% revealed a significant difference as expected (P = 0.001, OR = 0.14, %95 CI = 0.04-0.44). Comparison of allele frequencies of infertile men with abnormal sperm motility versus infertile men with normal sperm motility revealed a highly significant difference (P = 0.005, OR = 3.11, %95 CI = 1.41-6.86). Thus, the HFE H63D mutation seems to be an important risk factor for impaired sperm motility and is clinically associated with male infertility.