The role of genetic and autoimmune factors in premature ovarian failure

被引：49

作者：

Shamilova, Nigyar N. ^{[1
]}

Marchenko, Larisa A. ^{[1
]}

Dolgushina, Nataliya V. ^{[1
]}

Zaletaev, Dmitry V. ^{[2
]}

Sukhikh, Gennady T. ^{[1
]}

机构：

[1] Minist Hlth Russian Federat, Res Ctr Obstet Gynecol & Perinatol, Moscow 117997, Russia

[2] IM Sechenov First Moscow State Med Univ, State Educ Inst Higher Profess Training, Minist Hlth Russian Federat, Moscow, Russia

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2013年 / 30卷 / 05期

关键词：

FMR1 (fragile mental retardation) gene of fragile X-chromosome; CGG nucleotide repeats; Premature ovarian failure (POF); Anti-Mullerian hormone (AMH); Anti-ovarian antibodies; X-CHROMOSOME INACTIVATION; CAG REPEAT; PREMUTATION; INSUFFICIENCY; ANTIBODIES; RESERVE; WOMEN;

D O I：

10.1007/s10815-013-9974-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF). In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28-36, more than 36) in any of the FMR1 gene alleles. We performed the detection of skewed X-chromosome inactivation, CGG repeats in the FMR1 gene, anti-ovarian antibodies (AOA) and sex hormones tests. Compared to a higher or lower number of CGG repeats the 28-36 triple CGG counts are strongly associated with the AOA detection (RR = 19.23, 95 % CI = 2.63-100.0). The women with autoimmune-driven POF have significantly higher anti-Mullerian hormone levels in comparison to women with non-autoimmune-driven POF. The presence of AOA above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with POF.

引用

页码：617 / 622

页数：6

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