The association of arylendosulfatase 1 (SULF1) gene polymorphism with recurrent miscarriage.

PURPOSE: One of the most common problems in reproductive medicine is recurrent miscarriage (RM). There is increasing evidence showing genetic susceptibility of women is an important risk factor in the occurrence of RM. In recent years, there is a growing interest in sulfate and its role in fetal development. A novel mechanism of SULF1 has been demonstrated for modifying the activities of some growth factors and signalling molecules that have major roles during embryogenesis. The aim of present study was to evaluate the association of SULF1 gene polymorphism (rs6990375 G > A) in Iranian patients with RM. METHODS: We established a case-control study of 200 Iranian women: 100 patients with the history of two or more RM as cases and 100 healthy women with at least two cases of successful pregnancy and no history of miscarriage as controls. The polymorphism was examined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: The genotypic analysis between case and controls showed significant differences (p-value = 0.000). Allelic analysis showed no significant correlation (Χ2 = 3.36, p-value = 0.066). The heterozygous genetic variant was significantly higher among healthy women (OR = 12.67, 95% CI = 6.47-24.79). CONCLUSIONS: Our data showed that rs6990375 polymorphism of SULF1 gene could be among one of the factors related to RM in Iranian women. Further evaluation of this polymorphism may be important and need further studies.

HE4 combined with CA125: favorable screening tool for ovarian cancer.

Ovarian cancer is one of the most prevalent malignancies in women. Screening of the disease is done using variety of biomarkers. Diagnostic performance of current biomarkers of the disease such as human epididymis protein (HE4) and CA125 shows contradiction in previous studies. The goal of this study was to evaluate serum levels of CA125 and HE4 in Iranian patients with ovarian cancer and compare specificity and sensitivity of HE4, CA125 and HE4 + CA125 in patients with different stages and diverse histology. To evaluate CA125 and HE4, 32 patients and 34 healthy women were selected. Origin of ovarian cancer was verified by expert gynecological oncologist. Significance and diagnostic performance were determined by ANOVA and receiver operator characteristic (ROC) and areas under the curve (AUC), respectively. Serum levels of CA125 and HE4 were significantly increased in patients in comparison with control group, especially for tumor cells originated from epithelium (p < 0.001). ROC-AUC for HE4, CA125 and HE4 + CA125 were 0.91, 0.86 and 0.91, respectively. Specificity of HE4 was more than CA125 (85 vs. 80 %). Conversely, sensitivity of CA125 was higher in comparison with HE4 (90 vs. 80 %). It is being noticed that cutoff point of HE4 and CA125 was 150 pmol/L and 38 U/mL, respectively. HE4 is slightly more specific for diagnosis of early stages of the disease, but the difference is not remarkable. CA125 and HE4 + CA125 have some diagnostic performance for prediction of advanced stages. Generally, the data of present study suggest that combining of HE4 and CA125 is a better screening tool for diagnosis of ovarian cancer.

The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men.

BACKGROUND: About 15% of couples have infertility problems which 40% of them are related to the male factors. Genetic factors are candidate for about 10% of male infertility conditions. Among these, AZFa, AZFb, AZFc and AZFd regions on the Yq are considered most important for spermatogenesis. Microdeletions of these regions are thought to be involved in some cases of azoospermic or oligospermic infertile men. OBJECTIVE: We studied the prevalence of AZF microdeletions among Iranian infertile men with non-obstructive azoospermia and oligospermia. MATERIALS AND METHODS: A total of 50 Iranian azoospermic and oligospermic infertile men were selected for case group and 50 men with normal spermogram as control group. The molecular study of Y chromosome microdeletions was done by multiplex polymerase chain reaction (M-PCR) method by using of 13 sequence tagged site (STS) markers from AZF region. RESULTS: Four (8%) patients showed Y chromosome microdeletions among case group, deletion in AZFc region was the most frequent (80%) followed by AZFb (20%), in AZFa and AZFd region we did not detect any deletions. No deletion was detected in control group; the ratio of Y chromosome microdeletion in azoospermic men was higher than this ratio in oligospermic men [19% (3/16) among azoospermic men and 3% (1/34) among oligospermics]. Serum FSH level in men with microdeletions was higher than this level in men with no deletions (p=0.034). CONCLUSION: Because of relatively high prevalence of microdeletions on the long arm of Y chromosome among Iranian azoospermic and oligospermic patients, screening of this microdeletion may be advised to infertile men particularly azoospermic and oligospermic men before using assisted reproductive treatments.