The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the gene in a GLI3 Chinese population

被引：0

作者：

Wang, Yirui ^{[1
,2
,3
]}

Sun, Yimin ^{[1
,2
,3
,4
]}

Huang, Yongqing ^{[5
,6
,7
]}

Pan, Yongchu ^{[8
]}

Shi, Bing ^{[9
,10
]}

Ma, Jian ^{[5
,6
,7
]}

Ma, Lan ^{[8
]}

Lan, Feifei ^{[11
,12
,13
]}

Zhou, Yuxi ^{[2
,3
]}

Shi, Jiayu ^{[14
,15
]}

Zhu, Jinfang ^{[5
,6
]}

Jiang, Hongbing ^{[8
]}

Zhang, Lei ^{[2
,3
]}

Xiao, Xue ^{[2
,3
]}

Jiang, Min ^{[6
,7
]}

Yin, Aihua ^{[11
,12
,13
]}

Yu, Lili ^{[5
,6
,7
]}

Wang, Lin ^{[8
]}

Cheng, Jing ^{[1
,2
,3
]}

Yang, Yinxue ^{[6
,7
]}

机构：

[1] Tsinghua Univ, Dept Biomed Engn, Med Syst Biol Res Ctr, Sch Med, Beijing 100084, Peoples R China

[2] CapitalBio Corp, Beijing 102206, Peoples R China

[3] Natl Engn Res Ctr Beijing Biochip Technol, Beijing 102206, Peoples R China

[4] Tsinghua Univ, State Key Lab Breeding Base, Shenzhen Key Lab Chem Biol, Grad Sch Shenzhen, Shenzhen 518055, Peoples R China

[5] Ningxia Med Univ, Affiliated Hosp Stomatol, Dept Oral & Maxillofacial Surg, Yinchuan 750004, Peoples R China

[6] Ningxia Med Univ, Gen Hosp, Yinchuan 750004, Peoples R China

[7] Natl Engn Res Ctr Beijing Biochip Technol, Subctr Ningxia, Yinchuan 750004, Peoples R China

[8] Nanjing Med Univ, Jiangsu Key Lab Oral Dis, Nanjing 210029, Jiangsu, Peoples R China

[9] Sichuan Univ, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China

[10] Sichuan Univ, West China Coll Stomatol, Chengdu 610041, Sichuan, Peoples R China

[11] Guangdong Women & Children Hosp, Ctr Med Genet, Guangzhou 511442, Guangdong, Peoples R China

[12] Guangdong Women & Children Hosp, Maternal & Children Metab Genet Key Lab, Guangzhou 511442, Guangdong, Peoples R China

[13] Guangdong Women & Children Hosp, Biobank, Guangzhou 511442, Guangdong, Peoples R China

[14] Univ Calif Los Angeles, Sch Dent, Div Growth & Dev, Los Angeles, CA 90095 USA

[15] Univ Calif Los Angeles, Sch Dent, Sect Orthodont, Los Angeles, CA 90095 USA

来源：

JOURNAL OF GENETICS | 2017年 / 96卷 / 04期

基金：

中国国家自然科学基金;

关键词：

nonsyndromic cleft lip with or without cleft palate; GLI3; gene; association study; risk variants; MUTATIONS; EXPRESSION; SPECTRUM;

D O I：

10.1007/s12041-017-0808-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect due to abnormal orofacial development. Previous studies report abnormal sonic hedgehog (SHH) signalling activity during NSCL/P pathogenesis and propose several genes in the SHH pathway as candidate risk genes. As such, we focussed on GLI3, a downstream modulator of the SHH pathway. In the present study, we genotyped 34 tag SNPs covering GLI3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified risk variants of GLI3 that are associated with NSCL/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161-rs7785287 displayed significant association with NSCL/P and survived Bonferroni correction for multiple comparisons. The robustness of the association between GLI3 and NSCL/P is worth further examination in the future across different populations.

引用

页码：687 / 693

页数：7

共 20 条

[1] Cis-regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs [J].

Abbasi, Amir A. ;

Minhas, Rashid ;

Schmidt, Ansgar ;

Koch, Sabine ;

Grzeschik, Karl-Heinz .

DEVELOPMENT GROWTH & DIFFERENTIATION, 2013, 55 (08) :699-709

[2]

Abbasi AA, 2009, EVOL BIOINFORM, V5, P5

[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] 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

[5] New insights into genotype-phenotype correlation for GLI3 mutations [J].

Demurger, Florence ;

Ichkou, Amale ;

Mougou-Zerelli, Soumaya ;

Le Merrer, Martine ;

Goudefroye, Geraldine ;

Delezoide, Anne-Lise ;

Quelin, Chloe ;

Manouvrier, Sylvie ;

Baujat, Genevieve ;

Fradin, Melanie ;

Pasquier, Laurent ;

Megarbane, Andre ;

Faivre, Laurence ;

Baumann, Clarisse ;

Nampoothiri, Sheela ;

Roume, Joelle ;

Isidor, Bertrand ;

Lacombe, Didier ;

Delrue, Marie-Ange ;

Mercier, Sandra ;

Philip, Nicole ;

Schaefer, Elise ;

Holder, Muriel ;

Krause, Amanda ;

Laffargue, Fanny ;

Sinico, Martine ;

Amram, Daniel ;

Andre, Gwenaelle ;

Liquier, Alain ;

Rossi, Massimiliano ;

Amiel, Jeanne ;

Giuliano, Fabienne ;

Boute, Odile ;

Dieux-Coeslier, Anne ;

Jacquemont, Marie-Line ;

Afenjar, Alexandra ;

Van Maldergem, Lionel ;

Lackmy-Port-Lis, Marylin ;

Vincent-Delorme, Catherine ;

Chauvet, Marie-Liesse ;

Cormier-Daire, Valerie ;

Devisme, Louise ;

Genevieve, David ;

Munnich, Arnold ;

Viot, Geraldine ;

Raoul, Odile ;

Romana, Serge ;

Gonzales, Marie ;

Encha-Razavi, Ferechte ;

Odent, Sylvie .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (01) :92-102

[6]

FERGUSON MWJ, 1988, DEVELOPMENT, V103, P41

[7] SNP imputation in association studies [J].

Halperin, Eran ;

Stephan, Dietrich A. .

NATURE BIOTECHNOLOGY, 2009, 27 (04) :349-351

[8] Gli3-Deficient Mice Exhibit Cleft Palate Associated With Abnormal Tongue Development [J].

Huang, Xi ;

Goudy, Steven L. ;

Ketova, Tatiana ;

Litingtung, Ying ;

Chiang, Chin .

DEVELOPMENTAL DYNAMICS, 2008, 237 (10) :3079-3087

[9] Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations [J].

Johnston, Jennifer J. ;

Sapp, Julie C. ;

Turner, Joyce T. ;

Amor, David ;

Aftimos, Salim ;

Aleck, Kyrieckos A. ;

Bocian, Maureen ;

Bodurtha, Joann N. ;

Cox, Gerald F. ;

Curry, Cynthia J. ;

Day, Ruth ;

Donnai, Dian ;

Field, Michael ;

Fujiwara, Ikuma ;

Gabbett, Michael ;

Gal, Moran ;

Graham, John M., Jr. ;

Hedera, Peter ;

Hennekam, Raoul C. M. ;

Hersh, Joseph H. ;

Hopkin, Robert J. ;

Kayserili, Hulya ;

Kidd, Alexa M. J. ;

Kimonis, Virginia ;

Lin, Angela E. ;

Lynch, Sally Ann ;

Maisenbacher, Melissa ;

Mansour, Sahar ;

McGaughran, Julie ;

Mehta, Lakshmi ;

Murphy, Helen ;

Raygada, Margarita ;

Robin, Nathaniel H. ;

Rope, Alan F. ;

Rosenbaum, Kenneth N. ;

Schaefer, G. Bradley ;

Shealy, Amy ;

Smith, Wendy ;

Soller, Maria ;

Sommer, Annmarie ;

Stalker, Heather J. ;

Steiner, Bernhard ;

Stephan, Mark J. ;

Tilstra, David ;

Tomkins, Susan ;

Trapane, Pamela ;

Tsai, Anne Chun-Hui ;

Van Allen, Margot I. ;

Vasudevan, Pradeep C. ;

Zabel, Bernhard .

HUMAN MUTATION, 2010, 31 (10) :1142-1154

[10] Sonic hedgehog signaling regulates reciprocal epithelial-mesenchymal interactions controlling palatal outgrowth [J].

Lan, Yu ;

Jiang, Rulang .

DEVELOPMENT, 2009, 136 (08) :1387-1396

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