FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome
Purpose The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Methods Genotyping was p...
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Published in | Journal of assisted reproduction and genetics Vol. 34; no. 8; pp. 1087 - 1093 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Springer US
01.08.2017
Springer Nature B.V |
Subjects | |
Online Access | Get full text |
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Summary: | Purpose
The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS).
Methods
Genotyping was performed in 377 women with PCOS and 388 age-matched controls. Difference in the genotype distribution was assessed using a Fisher’s exact or chi-square test, and continuous variables were compared using a Student’s
t
test. To evaluate the association between the presence of PCOS status and SNP, logistic regression analyses were performed.
Results
Linkage disequilibrium between the two polymorphisms was approximately complete (
r
2
= 99%). The genotype distributions of the PCOS group significantly differed from those of the control group (Thr/Thr, Thr/Ala, and Ala/Ala frequencies were 38.5, 46.7, and 14.9% for the PCOS group and 46.6, 45.4, and 8.0% for the controls, respectively,
P
= .005; Asn/Asn, Asn/Ser, and Ser/Ser frequencies were 39.5, 47.2, and 13.3% for the PCOS group and 46.4, 45.4, and 8.2% for the controls, respectively,
P
= .035). Using the wild-type genotypes as the references, the odds ratios that a woman has PCOS were 2.23 (95% confidence intervals 1.38–3.68) for the Ala/Ala genotype, 1.87 (95% confidence intervals 1.14–3.06) for the Ser/Ser genotype, and 1.96 (95% confidence intervals 1.19–3.24) for the homozygous variant combination (Ser/Ser-Ala/Ala). However, there were no significant differences in serum hormonal, ovarian, and metabolic markers according to each genotype.
Conclusions
Findings of this study suggest a significant association between
FSHR
gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. The variant homozygote genotype results in a higher risk of PCOS. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1058-0468 1573-7330 |
DOI: | 10.1007/s10815-017-0953-z |