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.
引用
收藏
页数：3
相关论文
共 50 条
  • [1] The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome
    Mutaz Amin
    Claudia Gragnoli
    Journal of Ovarian Research, 16
  • [2] Oxytocin receptor (OXTR) is a risk gene for polycystic ovarian syndrome
    Amin, M.
    Horst, N.
    Wu, R.
    Gragnoli, C.
    EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES, 2023, 27 (06) : 2634 - 2638
  • [3] The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families
    Amin, M.
    Perrelli, M.
    Wu, R.
    Gragnoli, C.
    EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES, 2023, 27 (03) : 942 - 948
  • [4] The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families
    Wu, Rongling
    Gragnoli, Claudia
    JOURNAL OF OVARIAN RESEARCH, 2024, 17 (01)
  • [5] The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome
    Postolache, Teodor T.
    Al Tinawi, Qamar M.
    Gragnoli, Claudia
    JOURNAL OF OVARIAN RESEARCH, 2024, 17 (01)
  • [6] The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome
    Teodor T. Postolache
    Qamar M. Al Tinawi
    Claudia Gragnoli
    Journal of Ovarian Research, 17
  • [7] Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome
    Amin, Mutaz
    Horst, Nicholas
    Gragnoli, Claudia
    JOURNAL OF OVARIAN RESEARCH, 2023, 16 (01)
  • [8] The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families
    Syed, Shumail
    Gragnoli, Claudia
    JOURNAL OF OVARIAN RESEARCH, 2024, 17 (01)
  • [9] Two indel variants of prolactin receptor (PRLR) gene are associated with growth traits in goat
    Liu, Xinfeng
    Ma, Lin
    Wang, Min
    Wang, Ke
    Li, Jie
    Yan, Hailong
    Zhu, Haijing
    Lan, Xianyong
    ANIMAL BIOTECHNOLOGY, 2020, 31 (04) : 314 - 323
  • [10] Role of the CAG Repeat Polymorphism of the Androgen Receptor Gene in Polycystic Ovary Syndrome (PCOS)
    Schuering, A. N.
    Welp, A.
    Gromoll, J.
    Zitzmann, M.
    Sonntag, B.
    Nieschlag, E.
    Greb, R. R.
    Kiesel, L.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2012, 120 (02) : 73 - 79
12345