Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.

Preterm birth is the major cause of neonatal death and serious morbidity. Most preterm births are due to spontaneous onset of labor without a known cause or effective prevention. Both maternal and fetal genomes influence the predisposition to spontaneous preterm birth (SPTB), but the susceptibility...

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Autores principales:	Ritva Haataja, Minna K Karjalainen, Aino Luukkonen, Kari Teramo, Hilkka Puttonen, Marja Ojaniemi, Teppo Varilo, Bimal P Chaudhari, Jevon Plunkett, Jeffrey C Murray, Steven A McCarroll, Leena Peltonen, Louis J Muglia, Aarno Palotie, Mikko Hallman
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e7b39d52104847748ac6818679689356
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spelling	oai:doaj.org-article:e7b39d52104847748ac68186796893562021-11-18T06:17:45ZMapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.1553-73901553-740410.1371/journal.pgen.1001293https://doaj.org/article/e7b39d52104847748ac68186796893562011-02-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21304894/?tool=EBIhttps://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404Preterm birth is the major cause of neonatal death and serious morbidity. Most preterm births are due to spontaneous onset of labor without a known cause or effective prevention. Both maternal and fetal genomes influence the predisposition to spontaneous preterm birth (SPTB), but the susceptibility loci remain to be defined. We utilized a combination of unique population structures, family-based linkage analysis, and subsequent case-control association to identify a susceptibility haplotype for SPTB. Clinically well-characterized SPTB families from northern Finland, a subisolate founded by a relatively small founder population that has subsequently experienced a number of bottlenecks, were selected for the initial discovery sample. Genome-wide linkage analysis using a high-density single-nucleotide polymorphism (SNP) array in seven large northern Finnish non-consanginous families identified a locus on 15q26.3 (HLOD 4.68). This region contains the IGF1R gene, which encodes the type 1 insulin-like growth factor receptor IGF-1R. Haplotype segregation analysis revealed that a 55 kb 12-SNP core segment within the IGF1R gene was shared identical-by-state (IBS) in five families. A follow-up case-control study in an independent sample representing the more general Finnish population showed an association of a 6-SNP IGF1R haplotype with SPTB in the fetuses, providing further evidence for IGF1R as a SPTB predisposition gene (frequency in cases versus controls 0.11 versus 0.05, P = 0.001, odds ratio 2.3). This study demonstrates the identification of a predisposing, low-frequency haplotype in a multifactorial trait using a well-characterized population and a combination of family and case-control designs. Our findings support the identification of the novel susceptibility gene IGF1R for predisposition by the fetal genome to being born preterm.Ritva HaatajaMinna K KarjalainenAino LuukkonenKari TeramoHilkka PuttonenMarja OjaniemiTeppo VariloBimal P ChaudhariJevon PlunkettJeffrey C MurraySteven A McCarrollLeena PeltonenLouis J MugliaAarno PalotieMikko HallmanPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 7, Iss 2, p e1001293 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Ritva Haataja Minna K Karjalainen Aino Luukkonen Kari Teramo Hilkka Puttonen Marja Ojaniemi Teppo Varilo Bimal P Chaudhari Jevon Plunkett Jeffrey C Murray Steven A McCarroll Leena Peltonen Louis J Muglia Aarno Palotie Mikko Hallman Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
description	Preterm birth is the major cause of neonatal death and serious morbidity. Most preterm births are due to spontaneous onset of labor without a known cause or effective prevention. Both maternal and fetal genomes influence the predisposition to spontaneous preterm birth (SPTB), but the susceptibility loci remain to be defined. We utilized a combination of unique population structures, family-based linkage analysis, and subsequent case-control association to identify a susceptibility haplotype for SPTB. Clinically well-characterized SPTB families from northern Finland, a subisolate founded by a relatively small founder population that has subsequently experienced a number of bottlenecks, were selected for the initial discovery sample. Genome-wide linkage analysis using a high-density single-nucleotide polymorphism (SNP) array in seven large northern Finnish non-consanginous families identified a locus on 15q26.3 (HLOD 4.68). This region contains the IGF1R gene, which encodes the type 1 insulin-like growth factor receptor IGF-1R. Haplotype segregation analysis revealed that a 55 kb 12-SNP core segment within the IGF1R gene was shared identical-by-state (IBS) in five families. A follow-up case-control study in an independent sample representing the more general Finnish population showed an association of a 6-SNP IGF1R haplotype with SPTB in the fetuses, providing further evidence for IGF1R as a SPTB predisposition gene (frequency in cases versus controls 0.11 versus 0.05, P = 0.001, odds ratio 2.3). This study demonstrates the identification of a predisposing, low-frequency haplotype in a multifactorial trait using a well-characterized population and a combination of family and case-control designs. Our findings support the identification of the novel susceptibility gene IGF1R for predisposition by the fetal genome to being born preterm.
format	article
author	Ritva Haataja Minna K Karjalainen Aino Luukkonen Kari Teramo Hilkka Puttonen Marja Ojaniemi Teppo Varilo Bimal P Chaudhari Jevon Plunkett Jeffrey C Murray Steven A McCarroll Leena Peltonen Louis J Muglia Aarno Palotie Mikko Hallman
author_facet	Ritva Haataja Minna K Karjalainen Aino Luukkonen Kari Teramo Hilkka Puttonen Marja Ojaniemi Teppo Varilo Bimal P Chaudhari Jevon Plunkett Jeffrey C Murray Steven A McCarroll Leena Peltonen Louis J Muglia Aarno Palotie Mikko Hallman
author_sort	Ritva Haataja
title	Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
title_short	Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
title_full	Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
title_fullStr	Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
title_full_unstemmed	Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
title_sort	mapping a new spontaneous preterm birth susceptibility gene, igf1r, using linkage, haplotype sharing, and association analysis.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/e7b39d52104847748ac6818679689356
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Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.

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