engleski

Association of the Asn680Ser Follicle- stimulating hormone receptor polymorphism with ovarian response in Albanian women undergoing IVF/ICSI procedure.

Introduction This study investigated association of Asn680Ser FSHR polymorphism with the ovarian response in 104 women of Albanian ethnic population enrolled in ICSI program. The reason of infertility in all cases has been identified as male factor. Methods The present study encompass 104 prospectively recruited female patients of Albanian ethnic population from Kosovo from January 2010 to February 2012. All patients were otherwise healthy women with functioning ovulation, and no history of endocrine diseases or known family history of inherited diseases. Genomic DNA was extracted from 250 μL of whole blood using a PureLink™ Genomic DNA Mini Kit. Analysis of the FSHR gene polymorphism at position 680 was carried out using predesigned TaqMan® SNP Genotyping Assay. Real-time PCR was performed using the TaqMan Universal master mix II and Applied Biosystems 7500 Real-Time PCR System. Statistical analysis was performed by applying a commercially available software package. All statistical tests were two-sided and a conventional value of P < 0.05 was used to represent statistical significance. Results The frequencies of genotypes were: Asn/Asn 22.1%, Asn/Ser 47.1%, and Ser/Ser 30.8%. Study revealed the dominant frequency distribution of the Asn/Ser genotype consistent with its highest rates found in other ethnic groups. However, contrary to other ethnic population examined so far, the Ser/Ser variant in Albanian (Kosovo) female population was represented in higher frequency compared to Asn/Asn homozygote. BMI was significantly higher in the Ser/Ser as compared to the Asn/Ser (P= 0.0152) or the Asn/Asn group (P= 0.0014). In the overweight (BMI ≥ 25) group only statistically relevant difference were significantly (P= 0.0404) higher prolactin levels . Basic E2 levels showed statistically significant difference (0.0308) between the genotype variants. Statistically significant differences between poor and good responders were found regarding the age, BMI, bFSH, AFC, gonadotropin dose, stimulation length, embryo transfer number and number of dominant follicle, peak EII levels and endometrium thickness. Conclusion Contrary to other ethnic population examined so far, the Ser/Ser variant in Albanian female (Kosovo) population was represented in higher frequency compared to Asn/Asn homozygote. BMI was also significantly associated with genotype variant subgroups with the Ser/Ser group showing the highest and Asn/Asn group the lowest BMI index. Therefore, this is the first study showing the statistically significant association of BMI and Asn680Ser FSHR gene polymorphism.

Asn680Ser FSH receptor polymorphism, Albanian women

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