Journal of Jilin University(Medicine Edition) ›› 2022, Vol. 48 ›› Issue (5): 1354-1360.doi: 10.13481/j.1671-587X.20220532
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Research progress in association between LHCGR gene polymorphism and polycystic ovary syndrome
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Received:2021-10-08Online:2022-09-28Published:2022-11-15
CLC Number:
- R711.75
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| 1 | ZOU Y， ZHU F F， FANG C Y， et al. Identification of potential biomarkers for urine metabolomics of polycystic ovary syndrome based on gas chromatography-mass spectrometry［J］. Chin Med J （Engl）， 2018， 131（8）： 945-949. |
| 2 | BOURGNEUF C， BAILBÉ D， LAMAZIÈRE A， et al.The Goto-Kakizaki rat is a spontaneous prototypical rodent model of polycystic ovary syndrome［J］.Nat Commun，2021， 12（1）： 1064. |
| 3 | JAMSHIDI M， MOHAMMADI POUR S， BAHADORAM M， et al. Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women［J］. Int J Gynaecol Obstet， 2021，153（1）： 33-44. |
| 4 | CHEN Z J， ZHAO H， HE L， et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3， 2p21 and 9q33.3［J］. Nat Genet， 2011， 43（1）： 55-59. |
| 5 | HONG S H， HONG Y S， JEONG K， et al. Relationship between the characteristic traits of polycystic ovary syndrome and susceptibility genes［J］.Sci Rep， 2020， 10（1）： 10479. |
| 6 | BAKHTYUKOV A A， DERKACH K V， GUREEV M A，et al. Comparative study of the steroidogenic effects of human chorionic gonadotropin and thieno［2， 3-D］pyrimidine-based allosteric agonist of luteinizing hormone receptor in young adult， aging and diabetic male rats［J］. Int J Mol Sci， 2020， 21（20）： 7493. |
| 7 | 韦敬锡， 庞晓霞， 王俊利. 黄体生成素/绒毛膜促性腺激素受体与生殖发育相关疾病的研究进展［J］. 右江医学， 2020， 48（7）： 481-486. |
| 8 | QIAO J， HAN B. Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor［J］. Prog Mol Biol Transl Sci， 2019， 161： 69-89. |
| 9 | LOUWERS Y V， STOLK L， UITTERLINDEN A G， et al. Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome［J］. J Clin Endocrinol Metab， 2013， 98（12）： E2006-E2012. |
| 10 | XU Y P， LI Z Q， AI F L， et al. Systematic evaluation of genetic variants for polycystic ovary syndrome in a Chinese population［J］.PLoS One，2015，10（10）： e0140695. |
| 11 | ZOU J， WU D C， LIU Y， et al. Association of luteinizing hormone/choriogonadotropin receptor gene polymorphisms with polycystic ovary syndrome risk： a meta-analysis［J］. Gynecol Endocrinol， 2019， 35（1）： 81-85. |
| 12 | VISHNUBOTLA D S， SHEK A P， MADIREDDI S. Pooled genetic analysis identifies variants that confer enhanced susceptibility to PCOS in Indian ethnicity［J］. Gene， 2020， 752： 144760. |
| 13 | MUTHARASAN P， GALDONES E， PEÑALVER BERNABÉ B， et al. Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry［J］. J Clin Endocrinol Metab， 2013， 98（1）： E185-E190. |
| 14 | BASSIOUNY Y A， RABIE W A， HASSAN A A， et al. Association of the luteinizing hormone/choriogonadotropin receptor gene polymorphism with polycystic ovary syndrome［J］. Gynecol Endocrinol， 2014， 30（6）： 428-430. |
| 15 | THATHAPUDI S， KODATI V， ERUKKAMBATTU J， et al. Association of luteinizing hormone chorionic gonadotropin receptor gene polymorphism （rs2293275） with polycystic ovarian syndrome［J］.Genet Test Mol Biomarkers，2015，19（3）： 128-132. |
| 16 | KANAMARLAPUDI V， GORDON U D， BERNAL A L.Luteinizing hormone/chorionic gonadotrophin receptor overexpressed in granulosa cells from polycystic ovary syndrome ovaries is functionally active［J］. Reprod Biomed Online， 2016， 32（6）： 635-641. |
| 17 | HENKE A， GROMOLL J. New insights into the evolution of chorionic gonadotrophin［J］. Mol Cell Endocrinol， 2008， 291（1/2）： 11-19. |
| 18 | TROPPMANN B， KLEINAU G， KRAUSE G， et al. Structural and functional plasticity of the luteinizing hormone/choriogonadotrophin receptor［J］. Hum Reprod Update， 2013， 19（5）： 583-602. |
| 19 | BOUFERMES R， BELHOCINE M， AMIRAT Z， et al. Assessment of testicular lhcgr mRNA expression correlated with testis and seminal vesicle activities in the Libyan jird （Meriones Libycus， Rodentia： Muridae） during breeding season compared with nonbreeding season［J］. Animals （Basel）， 2021， 11（2）： 320. |
| 20 | HASSAN H A， ESSAWI M L， MEKKAWY M K， et al.Novel mutations of the LHCGR gene in two families with 46，XY DSD causing Leydig cell hypoplasia［J］.Hormones （Athens），2020，19（4）： 573-579. |
| 21 | LIU M H， HUMMITZSCH K， HARTANTI M D，et al.Analysis of expression of candidate genes for polycystic ovary syndrome in adult and fetal human and fetal bovine ovaries［J］. Biol Reprod， 2020， 103（4）： 840-853. |
| 22 | CHAMBERS A E， NAYINI K P， MILLS W E， et al. Circulating LH/hCG receptor （LHCGR） may identify pre-treatment IVF patients at risk of OHSS and poor implantation［J］. Reprod Biol Endocrinol， 2011， 9： 161. |
| 23 | MAH J T L， CHIA K S. A gentle introduction to SNP analysis： resources and tools［J］. J Bioinform Comput Biol， 2007， 5（5）： 1123-1138. |
| 24 | 沈 影， 夏 霁， 韩凤娟. 基因单核苷酸多态性在卵巢癌精准医疗中的应用探析［J］. 中南药学， 2020， 18（4）： 627-629. |
| 25 | RUSHING J S， SANTORO N. Fertility issues in polycystic ovarian disease： a systematic approach［J］. Endocrinol Metab Clin North Am， 2021， 50（1）： 43-55. |
| 26 | HAI L， MCGEE S R， RABIDEAU A C， et al. Infertility in female mice with a gain-of-function mutation in the luteinizing hormone receptor is due to irregular estrous cyclicity， anovulation， hormonal alterations， and polycystic ovaries［J］. Biol Reprod， 2015， 93（1）： 16. |
| 27 | ALVIGGI C， CONFORTI A， SANTI D， et al. Clinical relevance of genetic variants of gonadotrophins and their receptors in controlled ovarian stimulation： a systematic review and meta-analysis［J］. Hum Reprod Update， 2018， 24（5）： 599-614. |
| 28 | ALMAWI W Y， HUBAIL B， AREKAT D Z， et al. Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome［J］. J Assist Reprod Genet， 2015， 32（4）： 607-614. |
| 29 | JONES M R， CHUA A K， MENGESHA E A， et al. Metabolic and cardiovascular genes in polycystic ovary syndrome：a candidate-wide association study（CWAS）［J］. Steroids，2012，77（4）： 317-322. |
| 30 | WELT C K， STYRKARSDOTTIR U， EHRMANN D A，et al. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry［J］. J Clin Endocrinol Metab， 2012， 97（7）： E1342-E1347. |
| 31 | CUI L L， ZHAO H， ZHANG B， et al. Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women［J］. Hum Reprod， 2013， 28（2）： 538-544. |
| 32 | 梁雪飞， 孙 燕. 壮族与汉族rs13405728、rs12478601、rs13429458基因多态性与多囊卵巢综合征的相关性分析［J］. 中国性科学， 2021， 30（3）： 40-43. |
| 33 | 哈灵侠. 宁夏地区回族多囊卵巢综合征糖脂代谢分析及相关基因的研究［D］. 济南： 山东大学， 2015. |
| 34 | 潘 静， 王艳梅， 薄晓莉. 维族与汉族多囊卵巢综合征抗苗勒氏管激素水平对比及与年龄的相关性分析［J］. 中国处方药， 2019， 17（8）： 138-140. |
| 35 | LERCHBAUM E， TRUMMER O， GIULIANI A，et al. Susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3， 2p21， and 9q33.3 in a cohort of Caucasian women［J］. Horm Metab Res， 2011，43（11）： 743-747. |
| 36 | CAPALBO A， SAGNELLA F， APA R， et al. The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene （LHCGR） confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population［J］. Clin Endocrinol （Oxf），2012， 77（1）： 113-119. |
| 37 | ROBEVA R， ANDONOVA S， TOMOVA A， et al. LHCG receptor polymorphisms in PCOS patients［J］. Biotechnol Biotechnol Equip， 2018， 32（2）： 427-432. |
| 38 | VALKENBURG O， UITTERLINDEN A G， PIERSMA D， et al. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome［J］. Hum Reprod， 2009， 24（8）： 2014-2022. |
| 39 | BRANAVAN U， MUNEESWARAN K， WIJESUNDERA S，et al. Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques［J］. PLoS One， 2018， 13（12）： e0209830. |
| 40 | EL-SHAL A S， ZIDAN H E， RASHAD N M， et al. Association between genes encoding components of the Leutinizing hormone/Luteinizing hormone-choriogonadotrophin receptor pathway and polycystic ovary syndrome in Egyptian women［J］. IUBMB Life， 2016， 68（1）： 23-36. |
| 41 | SATER M S， MAGDOUD K， DENDANA M， et al. Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants and risk of recurrent pregnancy loss： a case control study［J］. Meta Gene， 2018， 15： 90-95. |
| 42 | BROKKEN L J S， LUNDBERG-GIWERCMAN Y， RAJPERT DE-MEYTS E， et al. Association of polymorphisms in genes encoding hormone receptors ESR1， ESR2 and LHCGR with the risk and clinical features of testicular germ cell cancer［J］. Mol Cell Endocrinol， 2012， 351（2）： 279-285. |
| 43 | MECZEKALSKI B， SZELIGA A， MACIEJEWSKA-JESKE M， et al. Hyperthecosis： an underestimated nontumorous cause of hyperandrogenism［J］. Gynecol Endocrinol， 2021， 37（8）： 677-682. |
| 44 | WIERMAN M E. Hyperandrogenic anovulation： differential diagnosis and evaluation［J］. Endocrinol Metab Clin North Am， 2021， 50（1）： 1-10. |
| 45 | HA L X， SHI Y H， ZHAO J L， et al. Association study between polycystic ovarian syndrome and the susceptibility genes polymorphisms in Hui Chinese women［J］. PLoS One， 2015， 10（5）： e0126505. |
| 46 | 李 霞， 田海清， 张 萌， 等. LHCGR基因多态性与肥胖型维族PCOS糖代谢异常的关联性研究［J］. 新疆医学， 2019， 49（4）： 325-328. |
| 47 | BORGBO T， CHRUDIMSKA J， MACEK M， et al. The polymorphic insertion of the luteinizing hormone receptor “insLQ” show a negative association to LHR gene expression and to the follicular fluid hormonal profile in human small antral follicles［J］. Mol Cell Endocrinol， 2018， 460： 57-62. |
| 48 | SCHÜLER-TOPRAK S， TREECK O， ORTMANN O.Human chorionic gonadotropin and breast cancer［J］. Int J Mol Sci， 2017， 18（7）： 1587. |
| 49 | O’BRIEN T J， KALMIN M M， HARRALSON A F， et al. Association between the luteinizing hormone/chorionic gonadotropin receptor （LHCGR） rs4073366 polymorphism and ovarian hyperstimulation syndrome during controlled ovarian hyperstimulation［J］. Reprod Biol Endocrinol， 2013， 11： 71. |
| 50 | LE M T， LE V N S， LE D D， et al. Exploration of the role of anti-Mullerian hormone and LH/FSH ratio in diagnosis of polycystic ovary syndrome［J］. Clin Endocrinol （Oxf）， 2019， 90（4）： 579-585. |
| 51 | RACKOW B W， VANDEN BRINK H， HAMMERS L，et al. Ovarian morphology by transabdominal ultrasound correlates with reproductive and metabolic disturbance in adolescents with PCOS［J］. J Adolesc Health， 2018，62（3）： 288-293. |
| 52 | DESWAL R， NANDA S， DANG A S. Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome［J］. Syst Biol Reprod Med， 2019， 65（5）： 400-408. |
| 53 | LIU N N， MA Y M， WANG S Y，et al. Association of the genetic variants of luteinizing hormone， luteinizing hormone receptor and polycystic ovary syndrome［J］.Reprod Biol Endocrinol， 2012， 10： 36. |
| 54 | LIAQAT I， JAHAN N， KRIKUN G，et al. Genetic polymorphisms in Pakistani women with polycystic ovary syndrome［J］.Reprod Sci， 2015， 22（3）： 347-357. |
| 55 | BENTOV Y， KENIGSBERG S， CASPER R F. A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea， low oocyte yield， and recurrent pregnancy loss［J］. Fertil Steril， 2012， 97（5）： 1165-1168. |
| 56 | LINDGREN I， NENONEN H， HENIC E， et al. Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization［J］. J Assist Reprod Genet， 2019， 36（1）： 29-38. |
| 57 | JAVADI-ARJMAND M， DAMAVANDI E， CHOOBINEH H， et al. Evaluation of the prevalence of exons 1 and 10 polymorphisms of LHCGR gene and its relationship with IVF success［J］. J Reprod Infertil， 2019， 20（4）： 218-224. |
| 58 | XIA J Y， TIAN W， YIN G H， et al. Association of Rs13405728， Rs12478601， and Rs2479106 single nucleotide polymorphisms and in vitro fertilization and embryo transfer efficacy in patients with polycystic ovarian syndrome： a case control genome-wide association study［J］.Kaohsiung J Med Sci，2019，35（1）： 49-55. |
| 59 | LU X F， YAN Z， CAI R F， et al. Pregnancy and live birth in women with pathogenic LHCGR variants using their own oocytes［J］. J Clin Endocrinol Metab， 2019， 104（12）： 5877-5892. |
| 60 | PARK C， JIANG N， PARK T. Pure additive contribution of genetic variants to a risk prediction model using propensity score matching： application to type 2 diabetes［J］. Genomics Inform， 2019， 17（4）： e47. |
| 61 | SEMAEV S， SHAKHTSHNEIDER E. Genetic risk score for coronary heart disease： review［J］. J Pers Med， 2020， 10（4）： 239. |
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