Evidence map›Paper›PMID 35838787›Full record

ArticlePediatric surgery international2022

Association of PFKM gene polymorphisms and susceptibility to cryptorchidism in a Chinese Han population.

Siyu Long, Ran Zhang, Qinni Yang, Yanyun Wang, Yaping Song, Bin Zhou, Lin Zhang

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Article in Pediatric surgery international, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
0.2field-weighted citation impact, top 47% of its field
1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Siyu LongDepartment of Immunology, West China School of Basic Medical Science and Forensic Medicine, Sichuan University, No. 17 Ren Min Nan Lu Chengdu, Sichuan, 610041, China.
Ran ZhangDepartment of Cardiology, West China Hospital of Sichuan University, Chengdu, 610041, Sichuan, China.
Qinni YangDepartment of Immunology, West China School of Basic Medical Science and Forensic Medicine, Sichuan University, No. 17 Ren Min Nan Lu Chengdu, Sichuan, 610041, China.
Yanyun WangLaboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second Hospital of Sichuan University, Sichuan University, No. 20 Ren Min Nan Lu, Chengdu, 610041, Sichuan, China.
Yaping SongLaboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second Hospital of Sichuan University, Sichuan University, No. 20 Ren Min Nan Lu, Chengdu, 610041, Sichuan, China.
Bin ZhouLaboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second Hospital of Sichuan University, Sichuan University, No. 20 Ren Min Nan Lu, Chengdu, 610041, Sichuan, China. zb630@163.com.
Lin ZhangDepartment of Immunology, West China School of Basic Medical Science and Forensic Medicine, Sichuan University, No. 17 Ren Min Nan Lu Chengdu, Sichuan, 610041, China. zhanglin@scu.edu.cn.
Sichuan University · CNWest China Hospital of Sichuan University · CN

Funding

Department of Science and Technology of Sichuan Province 2020ZYD007Department of Science and Technology of Sichuan Province 2021YFS0026National Natural Science Foundation of China 81974226National Natural Science Foundation of China,China 32171264National Natural Science Foundation of China,China 81974365
6 · The paper itself

Abstract

backgroundCryptorchidism is one of the most common congenital anomalies in newborn boys. There are various risk factors that have been verified to have relationship with cryptorchidism, including exogenous and genetic, but the pathogenesis of cryptorchidism remains unclear. PFKM gene is a critical gene encodes for a regulatory enzyme, which limits the rate in the pathway of glycolysis. We assumed that cryptorchidism risk may associated with PFKM gene single-nucleotide polymorphisms (SNPs). Thus we selected three tag SNPs in the PFKM gene and aimed to investigate the possible association between PFKM gene polymorphisms and cryptorchidism risk.

methodsThe SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. 140 cases and 227 controls were enrolled in this study, including 105 unilateral cryptorchidism and 35 bilateral cases. The testis position was decided by the higher one in bilateral cases.

resultsThe frequency of allele G of SNP rs2228500 is increased in cryptorchidism patients compared to that in controls (p < 0.05). Genotypic frequencies of rs2228500 are associated with the susceptibility of cryptorchidism in the codominant model (p < 0.05). And compared with G/G genotype in the dominant model, notable decreased frequencies of A carriers (A/G-A/A genotypes) were observed in cryptorchidism patients (p = 0.0069, OR = 1.80, 95% CI  1.17-2.75).

conclusionsThis research first revealed that PFKM gene polymorphisms were associated with cryptorchidism in a Chinese Han population. We have offered primary evidence that the G allele and the G/G genotype of rs2228500 SNP in the PFKM gene are more frequent in patients with cryptorchidism than healthy controls.

Indexed as

CryptorchidismCase-Control StudiesChinaEthnicityGenetic Predisposition to DiseaseGenotypeHumansInfant, NewbornMalePhosphofructokinase-1, Muscle TypePolymorphism, Single NucleotidePFKM protein, humanPhosphofructokinase-1, Muscle TypeCryptorchidismPFKMPolymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP)Single-nucleotide polymorphisms (SNP)

Identifiers

PMID35838787
OpenAlexW4285591121

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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.