Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women

Fu, Lingyuan; Zhang, Zhaofeng; Zhang, Aiping; Xu, Jianhua; Huang, Xianliang; Zheng, Qiuling; Cao, Yingli; Wang, Lei; Du, Jing

doi:10.1007/s10815-013-9979-z

Cited by 30 publications

(27 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We analyzed the association of PCOS with 11 SNPs from LHCGR and FSHR previously tested for their association with PCOS in European [18][19][20]25], and non-European [17,[26][27][28][29] populations. This case-control sample included 203 women with PCOS and 211 age-and ethnically-matched (Bahraini Arab) control women.…”

Section: Discussionmentioning

confidence: 99%

Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome

Almawi

Hubail

Arekat

et al. 2015

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose Previous studies identified follicle-stimulating hormone receptor (FSHR) and luteinizing hormone/ choriogonadotropin receptor (LHCGR) genes as polycystic ovary syndrome (PCOS) susceptibility loci, which was dependent on the racial/ethnic background of studied population. We investigated the association of genetic variants in FSHR and LHCGR with PCOS in Bahraini Arab women. Methods A retrospective case-control study, involving 203 women with PCOS, and 211 age-and ethnically-matched control women. FSHR and LHCGR genotyping was done by allelic exclusion method (real-time PCR).Results Significantly lower frequencies of heterozygous LHCGR rs7371084 and FSHR rs11692782 genotype carriers were seen between women with PCOS vs. controls, and increased frequency of heterozygous homozygous LHCGR rs4953616 genotype carriers were detected between women with PCOS compared to control women. Limited linkage disequilibrium was noted among LHCGR and FSHR SNPs, and 2 blocks were constructed: the first (Block 1) spanning 61 kb contained the six tested LHCGR SNPs, and the second (Block 2) spanning 298 kb contained four of the five tested FSHR SNPs. Higher frequency of LHCGR GTCAAG haplotype was seen in women with PCOS compared to controls; the frequencies of the remaining LHCGR haplotypes, and all FSHR haplotypes were similar between cases and controls. Conclusion This is the first study to confirm the association of novel LHCGR (rs7371084, rs4953616) and FSHR (rs11692782) SNPs with PCOS. The differential association of LHCGR and FSHR variants with PCOS confirms the racial/ ethnic contribution to their association with PCOS.

show abstract

Section: Discussionmentioning

confidence: 99%

Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome

Almawi

Hubail

Arekat

et al. 2015

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Additionally, the Asn680Ser polymorhism of FSHR was reported to be related to the levels of FSH and PRL while other PCOS-associated endocrine hormones were not [29]. In another study by Fu et al, this SNP was found to be associated with high levels of FSH and low E2 levels [12].…”

Section: Discussionmentioning

confidence: 97%

“…Gu et al revealed that the Asn680 Ser of FSHR was associated with PCOS in Korean women [9]. On the otherhand, Fu et al reported that the Asn680Ser polymorphism of FSHR was not a causative factor of PCOS in Chinese women [12]. All of these studies were conducted on different ethnic groups from different geographic regions.…”

Section: Introductionmentioning

confidence: 99%

A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women with PCOS: A Cross-Sectional Study

Naykı¹,

Koç²,

Naykı³

et al. 2017

J Clin Exp Invest

View full text Add to dashboard Cite

A B S T R A C TObjective: The aim of this study was to evaluate both the frequency of Asn680Ser polymorphism of follicle stimulating hormone receptor (FSHR) and whether this polymorphism is associated with polycystic ovary syndrome (PCOS) in a Turkish population. Patients and Methods: 100 patients with PCOS and 100 controls were recruited from Eastern Turkey. Venous blood samples were obtained for genetic study, hormone profile, glucose and insulin assays. Asn680Ser polymorphism of FSHR was analyzed by polymerase chain reaction (PCR) amplification and direct DNA sequencing. Two groups were compared for body mass index (BMI), modified Ferriman-Gallwey (mFG) score, fasting glucose, fasting insulin, insulin resistance, hormone and lipid status. Then, all patients were divided into subgroups for genotypes of FSHR polymorphism. These subgroups were also compared for these mentioned parameters. Results:The difference between women with PCOS and controls in allelic frequencies for Asn680Ser polymorphism of FSHR were not significant. When this single nucleotide polymorphism (SNP) at codon 680 was separately analyzed, no significant difference was found in the genotype frequency among the Asn680Asn, Asn680Ser, andSer680Ser subgroups. There were no significant differences in BMI, mFG score, levels of fasting glucose and fasting insulin, HOMA-IR, and also levels of FSH, luteinizing hormone, estradiol, prolactin, thyroid stimulating hormone, total testosterone among the PCOS patients carrying different genotypes of Asn680Ser polymorphism Conclusion: there is no association between Asn680Ser polymorphism of FSHR and PCOS in Turkish women from eastern provinces of Turkey. In addition, this SNP seems not to be associated with BMI, IR and PCOS-associated endocrine hormones.

show abstract

“…Several of these SNPs result in amino acid substitutions and, therefore, might affect protein expression or function [29, 34]. The associations have not always been found, perhaps due to population differences and a limited cohort size and a limited number of genetic variants examined [30, 35]. …”

Section: Coding Sequence Variants In Fshr Lhcgr and Insr Associated mentioning

confidence: 99%

Functional genomics of PCOS: from GWAS to molecular mechanisms

McAllister

Legro

Modi

et al. 2015

Trends in Endocrinology & Metabolism

176

114

View full text Add to dashboard Cite

Polycystic ovary syndrome (PCOS) is a common endocrinopathy characterized by increased ovarian androgen biosynthesis, anovulation, and infertility. PCOS has a strong heritable component based on familial clustering and twin studies. Genome-wide association studies (GWAS) identified several PCOS candidate loci including, DENND1A, LHCGR, FSHR, ZNF217, YAP1, INSR, RAB5B, and C9orf3. Here, we review the functional roles of strong PCOS candidate loci focusing on FSHR, LHCGR, INSR and DENND1A. We propose that these candidates comprise a hierarchical signaling network by which DENND1A, LHCGR, INSR, RAB5B, adapter proteins, and associated downstream signaling cascades converge to regulate theca cell androgen biosynthesis. Future elucidation of the functional gene networks predicted by the PCOS GWAS will result in new diagnostic and therapeutic approaches for women with PCOS.

show abstract

Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women

Cited by 30 publications

References 19 publications

Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome

Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome

A Single Nucleotide Polymorphism of Follicle-Stimulating Hormone Receptor Gene in Turkish Women with PCOS: A Cross-Sectional Study

Functional genomics of PCOS: from GWAS to molecular mechanisms

Contact Info

Product

Resources

About