The frequency distribution of allelic variation in exon 10 of the FSH receptor gene in infertility patients from different ethnical backgrounds, a large population study from the Netherlands

Abstract

OBJECTIVE: Studies on the frequency distribution of the follicle stimulating hormone receptor (FSHR) polymorphisms report conflicting results not only within fertile and infertile populations, but also between males and females. It has been suggested that ethnicity might influence these outcomes. Therefore, the aim of this study was to determine the frequency distribution of the FHSR polymorphisms, at position 680 of exon 10, within a large group of infertility patients from different ethnical backgrounds.DESIGN: Retrospective cohort study.MATERIALS AND METHODS: We studied 2001 patients (1771 women and 230 men) of different ethnic origin (Caucasian, Asian, Hindustani, Creole and Mediterranean). FSH receptor single nucleotide polymorphisms (SNPs) at codon 680 of exon 10 were determined by restriction fragment length polymorphism of amplicons generated by PCR. Genotypes were compared with serum FSH levels and between different ethnical groups.RESULTS: We found a significantly lower percentage of Asians to have the Ser680Ser receptor variant compared to Caucasians and Mediterranean's. FSH levels did not differ between either the various ethnical groups, or the different FSH receptor polymorphisms.CONCLUSIONS: In our study population the Ser680Ser receptor variant is less common in the Asian subgroup compared to Caucasians and Mediterranean's. These data indicate that when comparing allelic frequency distributions of the FSHR polymorphism variants one should account at least for ethnical background. FSH levels did not differ between FSHR polymorphisms or between ethnical groups. OBJECTIVE: Studies on the frequency distribution of the follicle stimulating hormone receptor (FSHR) polymorphisms report conflicting results not only within fertile and infertile populations, but also between males and females. It has been suggested that ethnicity might influence these outcomes. Therefore, the aim of this study was to determine the frequency distribution of the FHSR polymorphisms, at position 680 of exon 10, within a large group of infertility patients from different ethnical backgrounds. DESIGN: Retrospective cohort study. MATERIALS AND METHODS: We studied 2001 patients (1771 women and 230 men) of different ethnic origin (Caucasian, Asian, Hindustani, Creole and Mediterranean). FSH receptor single nucleotide polymorphisms (SNPs) at codon 680 of exon 10 were determined by restriction fragment length polymorphism of amplicons generated by PCR. Genotypes were compared with serum FSH levels and between different ethnical groups. RESULTS: We found a significantly lower percentage of Asians to have the Ser680Ser receptor variant compared to Caucasians and Mediterranean's. FSH levels did not differ between either the various ethnical groups, or the different FSH receptor polymorphisms. CONCLUSIONS: In our study population the Ser680Ser receptor variant is less common in the Asian subgroup compared to Caucasians and Mediterranean's. These data indicate that when comparing allelic frequency distributions of the FSHR polymorphism variants one should account at least for ethnical background. FSH levels did not differ between FSHR polymorphisms or between ethnical groups.