Role of the 12q24.12 locus in the onset of preeclampsia: an Italian case-control study

被引：2

作者：

Di Gaetano, Cornelia ^{[1
]}

Marozio, Luca ^{[2
]}

Voglino, Floriana ^{[3
]}

Guarrera, Simonetta ^{[3
]}

Tancredi, Annalisa ^{[2
]}

Gibbone, Elena ^{[2
]}

Benedetto, Chiara ^{[2
]}

Gasparini, Mauro ^{[4
]}

Piazza, Alberto ^{[1
,3
]}

Matullo, Giuseppe ^{[1
,3
]}

机构：

[1] Univ Turin, Dept Genet Biol & Biochem, I-10126 Turin, Italy

[2] Univ Turin, Dept Obstet & Gynecol, I-10126 Turin, Italy

[3] Human Genet Fdn, Turin, Italy

[4] Politecn Torino, Dept Math, Turin, Italy

来源：

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE | 2012年 / 25卷 / 08期

关键词：

Chronic hypertension; preeclampsia; pregnancy; single nucleotide polymorphisms; GENOME-WIDE ASSOCIATION; RISK; VARIANTS; PATHOGENESIS; ATAXIN-2; WOMEN;

D O I：

10.3109/14767058.2011.636097

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: The 12q24.12 locus has been reported to be involved in the control of many traits and also in severe diseases such as cardiovascular disease, hypertension and some immune-related disease. To our knowledge, no study has been published so far investigating the role of this locus in the pathogenesis of preeclampsia (PE). Methods: We genotyped four single nucleotide polymorphisms (SNPs) in 12q24.12 locus in 198 preeclamptic, 224 chronic hypertensive and 265 normotensive women from Italy, to test the contribution polymorphisms/haplotypes on the onset of preeclampsia and their association with chronic hypertension. Results. No association was observed for any single SNP, while a common haplotype CGTG (21% in normotensive women) revealed a possible protective effect (OR 0.64, 95% CI 0.42-0.97) against preeclampsia. Conclusions: Our data suggest that a common haplotype within 12q24.12 locus may be associated with a protective effect against preeclampsia. This observation may be linked with the potential role of this region in the control of microcirculation. To the best of our knowledge, our study is the first one that links the 12q24.12 locus with this life-threatening perinatal complication of unknown etiology. Further physiological and functional studies are needed to clarify the molecular mechanisms and pathways of preeclampsia.

引用

页码：1228 / 1232

页数：5

共 30 条

[1] A low plasma volume in formerly preeclamptic women predisposes to the recurrence of hypertensive complications in the next pregnancy [J].

Aardenburg, Robert ;

Spaanderman, Marc E. ;

van Eijndhoven, Hugo W. ;

de Leeuw, Peter W. ;

Peeters, Louis L. .

JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION, 2006, 13 (08) :598-603

[2]

ACOG Committee on Practice Bulletins--Obstetrics, 2002, Obstet Gynecol, V99, P159

[3] Haploview: analysis and visualization of LD and haplotype maps [J].

Barrett, JC ;

Fry, B ;

Maller, J ;

Daly, MJ .

BIOINFORMATICS, 2005, 21 (02) :263-265

[4] Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes [J].

Barrett, Jeffrey C. ;

Clayton, David G. ;

Concannon, Patrick ;

Akolkar, Beena ;

Cooper, Jason D. ;

Erlich, Henry A. ;

Julier, Cecile ;

Morahan, Grant ;

Nerup, Jorn ;

Nierras, Concepcion ;

Plagnol, Vincent ;

Pociot, Flemming ;

Schuilenburg, Helen ;

Smyth, Deborah J. ;

Stevens, Helen ;

Todd, John A. ;

Walker, Neil M. ;

Rich, Stephen S. .

NATURE GENETICS, 2009, 41 (06) :703-707

[5] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[6] Coronary Microvascular Dysfunction in Patients with Cardiomyopathies [J].

Camici, Paolo G. .

CIRCULATION-HEART FAILURE, 2008, 1 (03) :150-152

[7] Efficiency and power in genetic association studies [J].

de Bakker, PIW ;

Yelensky, R ;

Pe'er, I ;

Gabriel, SB ;

Daly, MJ ;

Altshuler, D .

NATURE GENETICS, 2005, 37 (11) :1217-1223

[8]

Development Core Team R, 2009, R LANG ENV STAT COMP

[9] The Global Impact of Pre-eclampsia and Eclampsia [J].

Duley, Lelia .

SEMINARS IN PERINATOLOGY, 2009, 33 (03) :130-137

[10] Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium [J].

Ganesh, Santhi K. ;

Zakai, Neil A. ;

van Rooij, Frank J. A. ;

Soranzo, Nicole ;

Smith, Albert V. ;

Nalls, Michael A. ;

Chen, Ming-Huei ;

Kottgen, Anna ;

Glazer, Nicole L. ;

Dehghan, Abbas ;

Kuhnel, Brigitte ;

Aspelund, Thor ;

Yang, Qiong ;

Tanaka, Toshiko ;

Jaffe, Andrew ;

Bis, Joshua C. M. ;

Verwoert, Germaine C. ;

Teumer, Alexander ;

Fox, Caroline S. ;

Guralnik, Jack M. ;

Ehret, Georg B. ;

Rice, Kenneth ;

Felix, Janine F. ;

Rendon, Augusto ;

Eiriksdottir, Gudny ;

Levy, Daniel ;

Patel, Kushang V. ;

Boerwinkle, Eric ;

Rotter, Jerome I. ;

Hofman, Albert ;

Sambrook, Jennifer G. ;

Hernandez, Dena G. ;

Zheng, Gang ;

Bandinelli, Stefania ;

Singleton, Andrew B. ;

Coresh, Josef ;

Lumley, Thomas ;

Uitterlinden, Andre G. ;

vanGils, Janine M. ;

Launer, Lenore J. ;

Cupples, L. Adrienne ;

Oostra, Ben A. ;

Zwaginga, Jaap-Jan ;

Ouwehand, Willem H. ;

Thein, Swee-Lay ;

Meisinger, Christa ;

Deloukas, Panos ;

Nauck, Matthias ;

Spector, Tim D. ;

Gieger, Christian .

NATURE GENETICS, 2009, 41 (11) :1191-U48

← 1 2 3 →