Evidence map›Paper›PMID 41131503›Full record

ArticleBMC endocrine disorders2025

Exploring genotype-phenotype correlation of FSHR polymorphisms in polycystic ovary syndrome.

Mandeep Kaur, Sukhjashanpreet Singh, Archana Beri, Anupam Kaur

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Article in BMC endocrine disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Mandeep KaurDepartment of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, 143005, India.ORCID http://orcid.org/0009-0003-3481-3501
Sukhjashanpreet SinghDepartment of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, 143005, India.ORCID http://orcid.org/0009-0001-5391-7539
Archana BeriBeri Maternity Hospital, Southend Beri Fertility and IVF, Amritsar, Punjab, 143001, India.
Anupam KaurDepartment of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, 143005, India. anupamkaur@yahoo.com.ORCID http://orcid.org/0000-0002-2010-1234

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeSingle nucleotide polymorphisms (SNPs) in FSHR were reported to increase PCOS susceptibility. The present study was conducted to analyse the association of FSHR polymorphisms (rs1394205, rs11692782, and rs2349415) with PCOS in Punjab, India.

methodsA case-control study comprised of 823 women (443 PCOS cases and 380 healthy controls). Along with anthropometric measurements, lipid and hormonal profiles (LH, FSH, and testosterone levels) were also recorded. The genotyping of FSHR polymorphisms was performed with PCR-RFLP method. Continuous variables were compared using the student's t-test while the genetic association analysis was performed utilizing chi-square, binary logistic regression, and odds ratio with a 95% confidence interval. All the statistical analyses were performed on SPSS v.21 and GraphPad 9.

resultsA significant association of rs2349415 polymorphism was observed with PCOS. The recessive model conferred higher PCOS risk (Adjusted OR-1.64, p = 0.012). The genetic association of rs1394205 and rs11692782 remained non-significant (p > 0.05). rs2349415 and rs1394205 were significantly related to dyslipidemia, while rs11692782 had shown a role in the modulation of gonadotropic hormones. Haploview analysis showed a modest linkage disequilibrium in the block of 133 kb, and no association of FSHR haplotypes was identified with PCOS.

conclusionThe present findings concluded that a polymorphism, rs2349415, has a significant role in PCOS in the Punjabi population. Also, variations in the FSHR significantly modulate lipid metabolism and hormonal levels.

Indexed as

Genetic Predisposition to DiseasePolycystic Ovary SyndromePolymorphism, Single NucleotideReceptors, FSHAdultCase-Control StudiesFemaleFollow-Up StudiesGenetic Association StudiesGenotypeHumansIndiaPhenotypePrognosisYoung AdultFSHR protein, humanReceptors, FSHFSHFSHRLinkage disequilibriumPCOSPolymorphisms

Identifiers

PMID41131503
PMCPMC12548221

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.