Complex genetics of female fertility.
Complex genetics of female fertility.
复制标题
DOI：
10.1038/s41525-018-0068-1
复制
发表时间：
2018
影响因子：
5.3
通讯作者：
Montgomery GW
中科院分区：
文献类型：
--
作者：
Gajbhiye R;Fung JN;Montgomery GW
生殖寿命和女性生育率的变化对健康、人口规模和老龄化都有影响。生育率在绝经的一般征兆出现之前就会下降，而且还会受到常见生殖疾病的不利影响，包括多囊卵巢综合征(PCOS)和子宫内膜异位症。了解调节青春期和更年期时间的因素，以及与生育的关系，对个人和政策都很重要。与生殖寿命有关的共同性状和影响女性生育能力的常见疾病都存在很大的遗传变异。遗传学研究已经确定了导致生殖障碍的基因突变，在过去的十年里，全基因组关联研究(GWAS)改变了我们对这些复杂特征和疾病的共同遗传贡献的理解。这些研究在了解影响女性生育能力的性状和疾病变异的遗传因素方面取得了很大进展。来自GWAs的数据展示了遗传学对解释流行病学观察的效用，揭示了将青春期时机、生育力、生殖老龄化和健康结果联系起来的共同生物学途径。许多变异涉及DNA损伤/修复基因在绝经年龄的变化中，从而影响卵泡健康和衰老。除了发现单个基因和途径外，对常见遗传风险因素的日益强大的研究有助于解释生殖寿命、生育能力和相关性状调节中的潜在关系和因果关系。
Variation in reproductive lifespan and female fertility have implications for health, population size and ageing. Fertility declines well before general signs of menopause and is also adversely affected by common reproductive diseases, including polycystic ovarian syndrome (PCOS) and endometriosis. Understanding the factors that regulate the timing of puberty and menopause, and the relationships with fertility are important for individuals and for policy. Substantial genetic variation exists for common traits associated with reproductive lifespan and for common diseases influencing female fertility. Genetic studies have identified mutations in genes contributing to disorders of reproduction, and in the last ten years, genome-wide association studies (GWAS) have transformed our understanding of common genetic contributions to these complex traits and diseases. These studies have made great progress towards understanding the genetic factors contributing to variation in traits and diseases influencing female fertility. The data emerging from GWAS demonstrate the utility of genetics to explain epidemiological observations, revealing shared biological pathways linking puberty timing, fertility, reproductive ageing and health outcomes. Many variants implicate DNA damage/repair genes in variation in the age at menopause with implications for follicle health and ageing. In addition to the discovery of individual genes and pathways, the increasingly powerful studies on common genetic risk factors help interpret the underlying relationships and direction of causation in the regulation of reproductive lifespan, fertility and related traits.
登录
查看更多内容
影响因子：
30.8
作者：
Dunning AM;Michailidou K;Kuchenbaecker KB;Thompson D;French JD;Beesley J;Healey CS;Kar S;Pooley KA;Lopez-Knowles E;Dicks E;Barrowdale D;Sinnott-Armstrong NA;Sallari RC;Hillman KM;Kaufmann S;Sivakumaran H;Moradi Marjaneh M;Lee JS;Hills M;Jarosz M;Drury S;Canisius S;Bolla MK;Dennis J;Wang Q;Hopper JL;Southey MC;Broeks A;Schmidt MK;Lophatananon A;Muir K;Beckmann MW;Fasching PA;Dos-Santos-Silva I;Peto J;Sawyer EJ;Tomlinson I;Burwinkel B;Marme F;Guénel P;Truong T;Bojesen SE;Flyger H;González-Neira A;Perez JI;Anton-Culver H;Eunjung L;Arndt V;Brenner H;Meindl A;Schmutzler RK;Brauch H;Hamann U;Aittomäki K;Blomqvist C;Ito H;Matsuo K;Bogdanova N;Dörk T;Lindblom A;Margolin S;Kosma VM;Mannermaa A;Tseng CC;Wu AH;Lambrechts D;Wildiers H;Chang-Claude J;Rudolph A;Peterlongo P;Radice P;Olson JE;Giles GG;Milne RL;Haiman CA;Henderson BE;Goldberg MS;Teo SH;Yip CH;Nord S;Borresen-Dale AL;Kristensen V;Long J;Zheng W;Pylkäs K;Winqvist R;Andrulis IL;Knight JA;Devilee P;Seynaeve C;Figueroa J;Sherman ME;Czene K;Darabi H;Hollestelle A;van den Ouweland AM;Humphreys K;Gao YT;Shu XO;Cox A;Cross SS;Blot W;Cai Q;Ghoussaini M;Perkins BJ;Shah M;Choi JY;Kang D;Lee SC;Hartman M;Kabisch M;Torres D;Jakubowska A;Lubinski J;Brennan P;Sangrajrang S;Ambrosone CB;Toland AE;Shen CY;Wu PE;Orr N;Swerdlow A;McGuffog L;Healey S;Lee A;Kapuscinski M;John EM;Terry MB;Daly MB;Goldgar DE;Buys SS;Janavicius R;Tihomirova L;Tung N;Dorfling CM;van Rensburg EJ;Neuhausen SL;Ejlertsen B;Hansen TV;Osorio A;Benitez J;Rando R;Weitzel JN;Bonanni B;Peissel B;Manoukian S;Papi L;Ottini L;Konstantopoulou I;Apostolou P;Garber J;Rashid MU;Frost D;EMBRACE;Izatt L;Ellis S;Godwin AK;Arnold N;Niederacher D;Rhiem K;Bogdanova-Markov N;Sagne C;Stoppa-Lyonnet D;Damiola F;GEMO Study Collaborators;Sinilnikova OM;Mazoyer S;Isaacs C;Claes KB;De Leeneer K;de la Hoya M;Caldes T;Nevanlinna H;Khan S;Mensenkamp AR;HEBON;Hooning MJ;Rookus MA;Kwong A;Olah E;Diez O;Brunet J;Pujana MA;Gronwald J;Huzarski T;Barkardottir RB;Laframboise R;Soucy P;Montagna M;Agata S;Teixeira MR;kConFab Investigators;Park SK;Lindor N;Couch FJ;Tischkowitz M;Foretova L;Vijai J;Offit K;Singer CF;Rappaport C;Phelan CM;Greene MH;Mai PL;Rennert G;Imyanitov EN;Hulick PJ;Phillips KA;Piedmonte M;Mulligan AM;Glendon G;Bojesen A;Thomassen M;Caligo MA;Yoon SY;Friedman E;Laitman Y;Borg A;von Wachenfeldt A;Ehrencrona H;Rantala J;Olopade OI;Ganz PA;Nussbaum RL;Gayther SA;Nathanson KL;Domchek SM;Arun BK;Mitchell G;Karlan BY;Lester J;Maskarinec G;Woolcott C;Scott C;Stone J;Apicella C;Tamimi R;Luben R;Khaw KT;Helland Å;Haakensen V;Dowsett M;Pharoah PD;Simard J;Hall P;García-Closas M;Vachon C;Chenevix-Trench G;Antoniou AC;Easton DF;Edwards SL
通讯作者：
Edwards SL
影响因子：
16.2
作者：
Elks CE;Ong KK;Scott RA;van der Schouw YT;Brand JS;Wark PA;Amiano P;Balkau B;Barricarte A;Boeing H;Fonseca-Nunes A;Franks PW;Grioni S;Halkjaer J;Kaaks R;Key TJ;Khaw KT;Mattiello A;Nilsson PM;Overvad K;Palli D;Quirós JR;Rinaldi S;Rolandsson O;Romieu I;Sacerdote C;Sánchez MJ;Spijkerman AM;Tjonneland A;Tormo MJ;Tumino R;van der A DL;Forouhi NG;Sharp SJ;Langenberg C;Riboli E;Wareham NJ;InterAct Consortium
通讯作者：
InterAct Consortium
影响因子：
81.5
作者：
Azziz, Ricardo;Carmina, Enrico;Yildiz, Bulent O.
通讯作者：
Yildiz, Bulent O.
影响因子：
8
作者：
Chumlea, WC;Schubert, CM;Sun, SS
通讯作者：
Sun, SS
影响因子：
4.6
作者：
Aiken, C. E.;Tarry-Adkins, J. L.;Ozanne, S. E.
通讯作者：
Ozanne, S. E.