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rs6166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) normal risk
(C;T) 0
(G;G) 1 females slightly more likely to be sterile
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome2
Position48962782
GeneFSHR
is asnp
is mentioned by
dbSNPrs6166
ebirs6166
HLIrs6166
Exacrs6166
Varsomers6166
Maprs6166
PheGenIrs6166
hapmaprs6166
1000 genomesrs6166
hgdprs6166
ensemblrs6166
gopubmedrs6166
geneviewrs6166
scholarrs6166
googlers6166
pharmgkbrs6166
gwascentralrs6166
openSNPrs6166
23andMers6166
23andMe allrs6166
SNP Nexus

SNPshotrs6166
SNPdbers6166
MSV3drs6166
GWAS Ctlgrs6166
GMAF0.4017
Max Magnitude1
? (A;A) (A;G) (G;G) 28
rs6166, also known as Asn680Ser, is a SNP in the follicle stimulating hormone receptor FSHR gene. rs6166(G) is the risk allele encoding the Ser amino acid, at least based on one study in which less fecund women were found to be disproportionately Ser/Ser homozygotes (i.e. rs6166(G;G) homozygotes; p=0.0035).[PMID 18159088]
OMIM136435
DescOVARIAN RESPONSE TO FSH STIMULATION
Variant0006
Relatedalso
Neighborrs28928871
Distance340


Venter snp
Source plos
Gene FSHR
allele T
frequency 0.333
sift TOLERATED
HuRef 1103658093005
Disease Association Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS) (MIM:608115). OHSS is a disorder which occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a condition called hyperreactio luteinalis.



[PMID 20335500] FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women


[PMID 20448000] Commentary: FSH and Bone 2010: Evolving Evidence


[PMID 21546300] Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis


[PMID 22791757] Combined Effects of the Variants FSHB -211G/T and FSHR 2039A>G on Male Reproductive Parameters


ClinVar
Risk rs6166(A;A)
Alt rs6166(A;A)
Reference rs6166(G;G)
Significance Other
Disease Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome
Variation info
Gene FSHR
CLNDBN Ovarian response to FSH stimulation Ovarian hyperstimulation syndrome
Reversed 1
HGVS NC_000002.11:g.49189921C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017634.4, RCV000017635.5,



[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 19147210] The haplotype of two FSHR polymorphisms in ovarian cancer--a potential role of ethnology in risk modification.


[PMID 19387820OA-icon.png] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.


[PMID 19403562] Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.


[PMID 20399696] Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome.


[PMID 21269619] Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure.


[PMID 22401810] Assessment of FSHR variants and antimullerian hormone in infertility patients with a reduced ovarian response to gonadotropin stimulation.


GET Evidence
FSHR-S654N
aa_change Ser654Asn
aa_change_short S654N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23413141OA-icon.png] Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume


[PMID 22414334] Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis.


[PMID 23394253] Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures.


[PMID 25052309] The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome


[PMID 25721191] Follicle-stimulating hormone receptor polymorphism affects the outcome of ovulation induction in normogonadotropic (World Health Organization class 2) anovulatory subfertility


[PMID 25241129OA-icon.png] Genotyping common FSHR polymorphisms based on competitive amplification of differentially melting amplicons (CADMA)