Follicle-stimulating hormone receptor polymorphisms in a population of infertile women

Follicle-stimulating hormone receptor polymorphisms in a population of infertile women
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DOI:
10.1111/j.0001-6349.2005.00736.x
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发表时间:
2005-08-01
影响因子:
4.3
通讯作者:
Fried, G
Fried, G
中科院分区:
医学2区
文献类型:
--
作者:
Falconer, H;Andersson, E;Fried, G

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促卵泡激素(FSH)受体第10外显子存在两种已知的临床相关多态性,即第307位的丙氨酸或苏氨酸和第680位的天冬酰胺或丝氨酸,产生两种独立的等位基因变体:Thr 307/Asn 680和Ala 307/Ser 680。在位置680,三个FSH受体变异体是可能的:Asn/Asn,Asn/Ser,和Ser/Ser. We假设FSH受体多态性和卵巢reserve.Methods之间的关联FSH受体多态性在680位的68名不孕妇女的人口进行了研究。我们使用周期第3天的血清FSH水平作为卵巢储备的筛选。结果FSH受体变异型分布为Asn/Asn(AA)35%,Asn/Ser(AS)24%,Ser/Ser(SS)41%。在卵巢储备正常的女性中,周期第3天的FSH水平为5.6 +/- 1.9(AA组),6.7 +/- 1.3(AS组)和5.7 +/- 1.7(SS组)(无显著性)。周期第10天的相应FSH水平分别为6.9 +/- 1.9、6.3 +/- 1.7和8.3 +/- 2.8(P < 0.01,AA和AS vs. SS组)。SS组第10天FSH水平显著高于第3天(P < 0.05)。结论不育人群中Ser/Ser-680占优势。此外,与Asn/Asn和Asn/Ser变异型女性相比,卵巢储备正常和Ser/Ser FSH受体变异型女性的FSH水平显著较高。因此,FSH受体基因分型可能是一个有趣的辅助指标卵巢储备不孕妇女接受辅助生殖,并可能有助于确定FSH在体外受精的起始剂量。
Background There are two known polymorphisms of clinical relevance in the follicle-stimulating hormone (FSH) receptor exon 10, alanine or threonine at position 307, and asparagine or serine at position 680, giving rise to two discrete allelic variants: Thr307/Asn680 and Ala307/Ser680. At position 680, three FSH receptor variants are possible: Asn/Asn, Asn/Ser, and Ser/Ser. We hypothesized an association between FSH receptor polymorphisms and ovarian reserve.Methods FSH receptor polymorphisms at position 680 were studied in a population of 68 infertile women. We used serum FSH level at cycle day 3 as a screening for ovarian reserve. DNA was extracted from peripheral leukocytes in whole blood by using PCR and DNA sequencing in order to determine the type of FSH receptor.Results The distribution of FSH receptor variants was Asn/Asn (AA) 35%, Asn/Ser (AS) 24%, and Ser/Ser (SS) 41%. In women with normal ovarian reserve, FSH levels at cycle day 3 were 5.6 +/- 1.9 (AA group), 6.7 +/- 1.3 (AS group), and 5.7 +/- 1.7 (SS group) (non-significant). Corresponding FSH levels at cycle day 10 were 6.9 +/- 1.9, 6.3 +/- 1.7, and 8.3 +/- 2.8 (P < 0.01, AA and AS vs. SS group). In the SS group, FSH levels at cycle day 10 were significantly higher than they were at cycle day 3 (P < 0.05).Conclusions The results show that Ser/Ser-680 predominates in the studied infertile population. Furthermore, women with normal ovarian reserve and the Ser/Ser FSH receptor variant had significantly higher FSH levels, compared to women with Asn/Asn and Asn/Ser variants. FSH receptor genotyping may, thus, be interesting as an adjunct indicator of ovarian reserve for infertile women undergoing assisted reproduction, and may be helpful in the determination of the starting dosage of FSH in in vitro fertilization.