The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome

被引：4
|
作者：
Amin, Mutaz [1 ]
Gragnoli, Claudia [2 ,3 ,4 ]
机构：
[1] INSERM, US14 Orphanet, Paris, France
[2] Creighton Univ, Sch Med, Dept Med, Div Rheumatol, Omaha, NE 68124 USA
[3] Penn State Coll Med, Dept Publ Hlth Sci, Hershey, PA 17033 USA
[4] Bios Biotech Multidiagnost Hlth Ctr, Mol Biol Lab, I-00197 Rome, Italy
来源：
JOURNAL OF OVARIAN RESEARCH | 2023年 / 16卷 / 01期
关键词：
Prolactin; PRL; Prolactin receptor; PRLR; Gene; Expression; Polycystic ovarian syndrome; PCOS; Ovary; Cortisol; Hypothalamic-pituitary-ovarian axis; HPO-axis; Metabolic; Insulin resistance; IR; Obesity; Type; 2; diabetes; T2D; Families; Familial; Peninsular; Italy; Italian; Parametric analysis; Linkage disequilibrium; Association; Single nucleotide polymorphisms; SNP; Risk; Variant; Model; Dominant; Recessive; Penetrance; Complete; Incomplete; Irregular menses; Oligomenorrhea; Subfertility; Folliculogenesis; Fat metabolism; Ethnic group; Appetite; Energy expenditure; Estrous cycle length; Follicle luteinization; Maturation; Metabolism; Adrenal; Steroidogenesis; Anovulation; Testosterone; Hyperandrogenism; Hyperandrogenemia; Endocrine; Disorder; Women; Reproductive age; Impaired glucose metabolism; Milk production; Social bonding; Genotyping; Mendelian; PLINK; Pseudomarker; Miscarriage; Recurrent; Depression; Rotterdam diagnostic criteria; Identical twins; Uncertain paternity; Generation; Endometrium; Obese; RegulomeDB; Control; rs13436213; rs1604428; REVISED; 2003; CONSENSUS; DIAGNOSTIC-CRITERIA; SECRETION;
D O I：
10.1186/s13048-023-01280-5
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
The prolactin receptor gene (PRLR) may contribute to polycystic ovarian syndrome (PCOS) since it plays important roles in physiological ovarian functions. PRLR-knockout mice have irregular cycles and subfertility and variants in or around the PRLR gene were associated in humans with female testosterone levels and recurrent miscarriage. We tested 40 variants in the PRLR gene in 212 Italian families phenotyped by type 2 diabetes (T2D) and PCOS and found two intronic PRLR-variants (rs13436213 and rs1604428) significantly linked to and/or associated with the risk of PCOS. This is the first study to report PRLR as a novel risk gene in PCOS. Functional studies are needed to confirm these results.
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页数：3
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