Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Leslie, Elizabeth J. [verfasserIn] Carlson, Jenna C. [verfasserIn] Shaffer, John R. [verfasserIn] Butali, Azeez [verfasserIn] Buxó, Carmen J. [verfasserIn] Castilla, Eduardo E. [verfasserIn] Christensen, Kaare [verfasserIn] Deleyiannis, Fred W. B. [verfasserIn] Leigh Field, L. [verfasserIn] Hecht, Jacqueline T. [verfasserIn] Moreno, Lina [verfasserIn] Orioli, Ieda M. [verfasserIn] Padilla, Carmencita [verfasserIn] Vieira, Alexandre R. [verfasserIn] Wehby, George L. [verfasserIn] Feingold, Eleanor [verfasserIn] Weinberg, Seth M. [verfasserIn] Murray, Jeffrey C. [verfasserIn] Beaty, Terri H. [verfasserIn] Marazita, Mary L. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Human genetics |
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| Übergeordnetes Werk: |
volume:136 ; year:2017 ; number:3 ; day:04 ; month:01 ; pages:275-286 |
| Links: |
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| DOI / URN: |
10.1007/s00439-016-1754-7 |
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| Katalog-ID: |
SPR006365914 |
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| 245 | 1 | 0 | |a Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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| 520 | |a Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. | ||
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| 650 | 4 | |a Congenital Hypothyroidism |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a FOXE1 Gene |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Orofacial Cleft |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Ancestry Group |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Carlson, Jenna C. |e verfasserin |4 aut | |
| 700 | 1 | |a Shaffer, John R. |e verfasserin |4 aut | |
| 700 | 1 | |a Butali, Azeez |e verfasserin |4 aut | |
| 700 | 1 | |a Buxó, Carmen J. |e verfasserin |4 aut | |
| 700 | 1 | |a Castilla, Eduardo E. |e verfasserin |4 aut | |
| 700 | 1 | |a Christensen, Kaare |e verfasserin |4 aut | |
| 700 | 1 | |a Deleyiannis, Fred W. B. |e verfasserin |4 aut | |
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| 700 | 1 | |a Hecht, Jacqueline T. |e verfasserin |4 aut | |
| 700 | 1 | |a Moreno, Lina |e verfasserin |4 aut | |
| 700 | 1 | |a Orioli, Ieda M. |e verfasserin |4 aut | |
| 700 | 1 | |a Padilla, Carmencita |e verfasserin |4 aut | |
| 700 | 1 | |a Vieira, Alexandre R. |e verfasserin |4 aut | |
| 700 | 1 | |a Wehby, George L. |e verfasserin |4 aut | |
| 700 | 1 | |a Feingold, Eleanor |e verfasserin |4 aut | |
| 700 | 1 | |a Weinberg, Seth M. |e verfasserin |4 aut | |
| 700 | 1 | |a Murray, Jeffrey C. |e verfasserin |4 aut | |
| 700 | 1 | |a Beaty, Terri H. |e verfasserin |4 aut | |
| 700 | 1 | |a Marazita, Mary L. |e verfasserin |4 aut | |
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10.1007/s00439-016-1754-7 doi (DE-627)SPR006365914 (SPR)s00439-016-1754-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Leslie, Elizabeth J. verfasserin aut Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 Carlson, Jenna C. verfasserin aut Shaffer, John R. verfasserin aut Butali, Azeez verfasserin aut Buxó, Carmen J. verfasserin aut Castilla, Eduardo E. verfasserin aut Christensen, Kaare verfasserin aut Deleyiannis, Fred W. B. verfasserin aut Leigh Field, L. verfasserin aut Hecht, Jacqueline T. verfasserin aut Moreno, Lina verfasserin aut Orioli, Ieda M. verfasserin aut Padilla, Carmencita verfasserin aut Vieira, Alexandre R. verfasserin aut Wehby, George L. verfasserin aut Feingold, Eleanor verfasserin aut Weinberg, Seth M. verfasserin aut Murray, Jeffrey C. verfasserin aut Beaty, Terri H. verfasserin aut Marazita, Mary L. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 136(2017), 3 vom: 04. Jan., Seite 275-286 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:136 year:2017 number:3 day:04 month:01 pages:275-286 https://dx.doi.org/10.1007/s00439-016-1754-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 136 2017 3 04 01 275-286 |
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10.1007/s00439-016-1754-7 doi (DE-627)SPR006365914 (SPR)s00439-016-1754-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Leslie, Elizabeth J. verfasserin aut Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 Carlson, Jenna C. verfasserin aut Shaffer, John R. verfasserin aut Butali, Azeez verfasserin aut Buxó, Carmen J. verfasserin aut Castilla, Eduardo E. verfasserin aut Christensen, Kaare verfasserin aut Deleyiannis, Fred W. B. verfasserin aut Leigh Field, L. verfasserin aut Hecht, Jacqueline T. verfasserin aut Moreno, Lina verfasserin aut Orioli, Ieda M. verfasserin aut Padilla, Carmencita verfasserin aut Vieira, Alexandre R. verfasserin aut Wehby, George L. verfasserin aut Feingold, Eleanor verfasserin aut Weinberg, Seth M. verfasserin aut Murray, Jeffrey C. verfasserin aut Beaty, Terri H. verfasserin aut Marazita, Mary L. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 136(2017), 3 vom: 04. Jan., Seite 275-286 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:136 year:2017 number:3 day:04 month:01 pages:275-286 https://dx.doi.org/10.1007/s00439-016-1754-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 136 2017 3 04 01 275-286 |
| allfields_unstemmed |
10.1007/s00439-016-1754-7 doi (DE-627)SPR006365914 (SPR)s00439-016-1754-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Leslie, Elizabeth J. verfasserin aut Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 Carlson, Jenna C. verfasserin aut Shaffer, John R. verfasserin aut Butali, Azeez verfasserin aut Buxó, Carmen J. verfasserin aut Castilla, Eduardo E. verfasserin aut Christensen, Kaare verfasserin aut Deleyiannis, Fred W. B. verfasserin aut Leigh Field, L. verfasserin aut Hecht, Jacqueline T. verfasserin aut Moreno, Lina verfasserin aut Orioli, Ieda M. verfasserin aut Padilla, Carmencita verfasserin aut Vieira, Alexandre R. verfasserin aut Wehby, George L. verfasserin aut Feingold, Eleanor verfasserin aut Weinberg, Seth M. verfasserin aut Murray, Jeffrey C. verfasserin aut Beaty, Terri H. verfasserin aut Marazita, Mary L. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 136(2017), 3 vom: 04. Jan., Seite 275-286 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:136 year:2017 number:3 day:04 month:01 pages:275-286 https://dx.doi.org/10.1007/s00439-016-1754-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 136 2017 3 04 01 275-286 |
| allfieldsGer |
10.1007/s00439-016-1754-7 doi (DE-627)SPR006365914 (SPR)s00439-016-1754-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Leslie, Elizabeth J. verfasserin aut Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 Carlson, Jenna C. verfasserin aut Shaffer, John R. verfasserin aut Butali, Azeez verfasserin aut Buxó, Carmen J. verfasserin aut Castilla, Eduardo E. verfasserin aut Christensen, Kaare verfasserin aut Deleyiannis, Fred W. B. verfasserin aut Leigh Field, L. verfasserin aut Hecht, Jacqueline T. verfasserin aut Moreno, Lina verfasserin aut Orioli, Ieda M. verfasserin aut Padilla, Carmencita verfasserin aut Vieira, Alexandre R. verfasserin aut Wehby, George L. verfasserin aut Feingold, Eleanor verfasserin aut Weinberg, Seth M. verfasserin aut Murray, Jeffrey C. verfasserin aut Beaty, Terri H. verfasserin aut Marazita, Mary L. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 136(2017), 3 vom: 04. Jan., Seite 275-286 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:136 year:2017 number:3 day:04 month:01 pages:275-286 https://dx.doi.org/10.1007/s00439-016-1754-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 136 2017 3 04 01 275-286 |
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10.1007/s00439-016-1754-7 doi (DE-627)SPR006365914 (SPR)s00439-016-1754-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Leslie, Elizabeth J. verfasserin aut Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 Carlson, Jenna C. verfasserin aut Shaffer, John R. verfasserin aut Butali, Azeez verfasserin aut Buxó, Carmen J. verfasserin aut Castilla, Eduardo E. verfasserin aut Christensen, Kaare verfasserin aut Deleyiannis, Fred W. B. verfasserin aut Leigh Field, L. verfasserin aut Hecht, Jacqueline T. verfasserin aut Moreno, Lina verfasserin aut Orioli, Ieda M. verfasserin aut Padilla, Carmencita verfasserin aut Vieira, Alexandre R. verfasserin aut Wehby, George L. verfasserin aut Feingold, Eleanor verfasserin aut Weinberg, Seth M. verfasserin aut Murray, Jeffrey C. verfasserin aut Beaty, Terri H. verfasserin aut Marazita, Mary L. verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 136(2017), 3 vom: 04. Jan., Seite 275-286 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:136 year:2017 number:3 day:04 month:01 pages:275-286 https://dx.doi.org/10.1007/s00439-016-1754-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 136 2017 3 04 01 275-286 |
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Enthalten in Human genetics <Berlin> 136(2017), 3 vom: 04. Jan., Seite 275-286 volume:136 year:2017 number:3 day:04 month:01 pages:275-286 |
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Enthalten in Human genetics <Berlin> 136(2017), 3 vom: 04. Jan., Seite 275-286 volume:136 year:2017 number:3 day:04 month:01 pages:275-286 |
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Cleft Palate Congenital Hypothyroidism FOXE1 Gene Orofacial Cleft Ancestry Group |
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Leslie, Elizabeth J. @@aut@@ Carlson, Jenna C. @@aut@@ Shaffer, John R. @@aut@@ Butali, Azeez @@aut@@ Buxó, Carmen J. @@aut@@ Castilla, Eduardo E. @@aut@@ Christensen, Kaare @@aut@@ Deleyiannis, Fred W. B. @@aut@@ Leigh Field, L. @@aut@@ Hecht, Jacqueline T. @@aut@@ Moreno, Lina @@aut@@ Orioli, Ieda M. @@aut@@ Padilla, Carmencita @@aut@@ Vieira, Alexandre R. @@aut@@ Wehby, George L. @@aut@@ Feingold, Eleanor @@aut@@ Weinberg, Seth M. @@aut@@ Murray, Jeffrey C. @@aut@@ Beaty, Terri H. @@aut@@ Marazita, Mary L. @@aut@@ |
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| author |
Leslie, Elizabeth J. |
| spellingShingle |
Leslie, Elizabeth J. ddc 610 bkl 44.48 misc Cleft Palate misc Congenital Hypothyroidism misc FOXE1 Gene misc Orofacial Cleft misc Ancestry Group Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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610 ASE 44.48 bkl Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate Cleft Palate (dpeaa)DE-He213 Congenital Hypothyroidism (dpeaa)DE-He213 FOXE1 Gene (dpeaa)DE-He213 Orofacial Cleft (dpeaa)DE-He213 Ancestry Group (dpeaa)DE-He213 |
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ddc 610 bkl 44.48 misc Cleft Palate misc Congenital Hypothyroidism misc FOXE1 Gene misc Orofacial Cleft misc Ancestry Group |
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ddc 610 bkl 44.48 misc Cleft Palate misc Congenital Hypothyroidism misc FOXE1 Gene misc Orofacial Cleft misc Ancestry Group |
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ddc 610 bkl 44.48 misc Cleft Palate misc Congenital Hypothyroidism misc FOXE1 Gene misc Orofacial Cleft misc Ancestry Group |
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Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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(DE-627)SPR006365914 (SPR)s00439-016-1754-7-e |
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Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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Leslie, Elizabeth J. |
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Leslie, Elizabeth J. Carlson, Jenna C. Shaffer, John R. Butali, Azeez Buxó, Carmen J. Castilla, Eduardo E. Christensen, Kaare Deleyiannis, Fred W. B. Leigh Field, L. Hecht, Jacqueline T. Moreno, Lina Orioli, Ieda M. Padilla, Carmencita Vieira, Alexandre R. Wehby, George L. Feingold, Eleanor Weinberg, Seth M. Murray, Jeffrey C. Beaty, Terri H. Marazita, Mary L. |
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610 ASE 44.48 bkl |
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Elektronische Aufsätze |
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Leslie, Elizabeth J. |
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10.1007/s00439-016-1754-7 |
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610 |
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verfasserin |
| title_sort |
genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between foxe1 and all orofacial clefts, and tp63 and cleft lip with or without cleft palate |
| title_auth |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
| abstract |
Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. |
| abstractGer |
Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. |
| abstract_unstemmed |
Abstract Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have historically been analyzed as distinct entities. Genes for both CL/P and CP have been identified via multiple genome-wide linkage and association studies (GWAS); however, altogether, known variants account for a minority of the estimated heritability in risk to these craniofacial birth defects. We performed genome-wide meta-analyses of CL/P, CP, and all OFCs across two large, multiethnic studies. We then performed population-specific meta-analyses in sub-samples of Asian and European ancestry. In addition to observing associations with known variants, we identified a novel genome-wide significant association between SNPs located in an intronic TP63 enhancer and CL/P (p = 1.16 × $ 10^{−8} $). Several novel loci with compelling candidate genes approached genome-wide significance on 4q21.1 (SHROOM3), 12q13.13 (KRT18), and 8p21 (NRG1). In the analysis of all OFCs combined, SNPs near FOXE1 reached genome-wide significance (p = 1.33 × $ 10^{−9} $). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. |
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3 |
| title_short |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate |
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https://dx.doi.org/10.1007/s00439-016-1754-7 |
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Carlson, Jenna C. Shaffer, John R. Butali, Azeez Buxó, Carmen J. Castilla, Eduardo E. Christensen, Kaare Deleyiannis, Fred W. B. Leigh Field, L. Hecht, Jacqueline T. Moreno, Lina Orioli, Ieda M. Padilla, Carmencita Vieira, Alexandre R. Wehby, George L. Feingold, Eleanor Weinberg, Seth M. Murray, Jeffrey C. Beaty, Terri H. Marazita, Mary L. |
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Carlson, Jenna C. Shaffer, John R. Butali, Azeez Buxó, Carmen J. Castilla, Eduardo E. Christensen, Kaare Deleyiannis, Fred W. B. Leigh Field, L. Hecht, Jacqueline T. Moreno, Lina Orioli, Ieda M. Padilla, Carmencita Vieira, Alexandre R. Wehby, George L. Feingold, Eleanor Weinberg, Seth M. Murray, Jeffrey C. Beaty, Terri H. Marazita, Mary L. |
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10.1007/s00439-016-1754-7 |
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2024-07-03T22:36:25.167Z |
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| score |
7.3971796 |