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Polymorphisms in the Fetal Progesterone Receptor and a Calcium-Activated Potassium Channel Isoform Are Associated with Preterm Birth in an Argentinian Population

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Polymorphisms in the Fetal Progesterone Receptor and a Calcium-Activated Potassium Channel Isoform Are Associated with Preterm Birth in an Argentinian Population Journal of Perinatology (2013) 33, 336–340 & 2013 Nature America, Inc. All rights reserved 0743-8346/13 www.nature.com/jp ORIGINAL ARTICLE Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population PC Mann1, ME Cooper2, KK Ryckman1, B Comas3,4, J Gili3,4, S Crumley1, ENA Bream1, HM Byers1, T Piester1, A Schaefer1, PJ Christine1, A Lawrence1, KL Schaa1, KJP Kelsey1, SK Berends1, AM Momany1, E Gadow3, V Cosentino3, EE Castilla3,4,JLo´ pez Camelo3,5,6, C Saleme7, LJ Day8, SK England8,9, ML Marazita2, JM Dagle1 and JC Murray1 OBJECTIVE: To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture. STUDY DESIGN: Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. RESULT: Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P ¼ 0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P ¼ 0.01). Gestational age associated with PTB in PGR rs1942836 at 32–36 weeks (P ¼ 0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes. CONCLUSION: This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB. Journal of Perinatology (2013) 33, 336–340; doi:10.1038/jp.2012.118; published online 27 September 2012 Keywords: prematurity; progesterone receptor; KCNN3; hispanic; genetic association study; genetic admixture INTRODUCTION The complex interplay between genetics, population admixture Preterm birth (PTB) complicates nearly 13 million pregnancies and the environment makes PTB a challenging condition to study. worldwide each year.1 The rate of PTB in Argentina is estimated Candidate gene studies associating single-nucleotide polymorph- 18 to be roughly 8% with 2600 deaths yearly attributable to PTB.2 isms (SNPs) with PTB have been difficult to replicate. We created Health-care costs for preterm neonates are substantial3 and the a biorepository of preterm neonates in Argentina, including risk of lifelong disabilities for survivors, including chronic lung samples from their parents and extended families. We hypo- disease, cognitive impairment and cerebral palsy, is considerable.4 thesized that gene studies of our population with its unique While most PTB occurs spontaneously,5 the greatest single risk admixture would complement previous studies of PTB and allow factor for delivering a preterm neonate is a history of a prior PTB.6 the discovery of distinct novel gene variation. A genetic contribution to PTB is widely accepted.7 Twin studies and familial recurrences provide evidence that up to 40% of PTB risk is heritable.8,9 Racial differences in PTB rates are significant10 METHODS and may indicate unique genetic susceptibilities in certain Collection of samples began in November 2005 and continued through populations.11 Both maternal and paternal race have been 2008. Two public maternity centers in Argentina, the Instituto de shown independently to influence PTB.12–14 Admixture studies Maternidad y Ginecologı´a Nuestra Sen˜ora de las Mercedes in Tucuma´n in Latin America have shown tremendous geographic variability and Hospital Provincial de Rosario in Rosario participated in sample in Amerindian and European contributions to ancestry15 and in collection. Written informed consent was obtained from all participants and approved by both a local institutional review board and the University Argentina have shown extensive paternal directional mating of Iowa (IRB200411759). Cases were identified when a singleton was between historic populations of European fathers and Amerindian 16,17 delivered before 37 weeks of completed gestation. Gestational age mothers. (GA) was estimated by last menstrual period, ultrasound or physical 1Department of Pediatrics, University of Iowa, Iowa City, IA, USA; 2Department of Oral Biology and Center for Craniofacial and Dental Genetics, Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA; 3Centro de Educacio´nMe´dica e Investigaciones Clı´nicas, Buenos Aires, Capital Federal, Argentina; 4Instituto Nacional de Gene´tica Me´dica Populacional and Estudio Colaborativo Latino Americano de Malformaciones Conge´nitas at Laborato´rio de Epidemiologia de Malformac¸o˜ es Congeˆnitas, Instituto Oswaldo Cruz, Fundac¸a˜o Oswaldo Cruz, Rio de Janeiro, Brazil; 5Consejo Nacional de Investigaciones Cientı´ficas y Te´cnicas, Buenos Aires, Capital Federal, Argentina; 6Instituto Multidisciplinario de Biologı´a Celular, La Plata, Buenos Aires, Argentina; 7Instituto de Maternidad y Ginecologı´a Nuestra Sen˜ ora de las Mercedes, San Miguel de Tucuma´n, Tucuma´n, Argentina; 8Department of Obstetrics and Gynecology, University of Iowa, Iowa City, IA, USA and 9Department of Molecular Physiology and Biophysics, University of Iowa, Iowa City, IA, USA. Correspondence: Dr JC Murray, Departments of Pediatrics, Epidemiology and Biological Sciences, University of Iowa Carver College of Medicine, 500 Newton Road, 2182 ML, Iowa City, IA 52242-1181 USA. E-mail: [email protected] Received 19 December 2011; revised 15 June 2012; accepted 18 June 2012; published online 27 September 2012 Genetics of preterms in Argentina PC Mann et al 337 examination at the time of birth. Cases with congenital anomalies were Admixture analysis excluded but indicated reasons for PTB were not exclusions. To estimate genetic admixture in our study population, we evaluated Sample collection was attempted from three generations including the anthropologically variable regions of mtDNA and the Y-chromosome. preterm neonate, the neonate’s parents and maternal grandparents. This Hundred individuals from the Tucuma´n study site (50 males and 50 females) study design allowed separate investigation of transmission of genetic risk were selected for mtDNA sequencing and Y-chromosome sequencing. to a mother (maternal contribution to PTB) and the affected infant (fetal Sequencing of purified DNA was performed by Functional Biosciences contribution to PTB). Maternal sisters with a history of PTB and premature (Madison, WI, USA). Chromatograms were loaded to a UNIX workstation siblings were included for study if available. Samples consisting of cord and displayed with the CONSED program (v. 4.0), as previously described.19 blood, whole blood or saliva were obtained during hospitalization. mtDNA was sequenced in hypervariable region 1 (HVR1) and hypervari- Extraction of DNA from biosamples was completed at either the Centro able region 2 (HVR2). HVR1 was analyzed from 16 049 to 16 503 bp; HVR2 de Educacio´nMe´dica e Inverstigaciones Clı´nicas in Buenos Aires or the from 066 to 420 bp. Polymorphisms in mtDNA sequence were compared University of Iowa. with the revised Cambridge Reference Sequence,21 publicly available mtDNA sequence, http://www.ncbi.nlm.nih.gov/genbank/ and with pre- viously published works16,22 to assign haplogroups. Sample genotyping Y-chromosome sequencing was performed for DYS19 and DYS199. DYS19 is a Y-chromosome short tandem repeat that owes it diversity to a SNP genotyping was performed with TaqMan assays (Applied Biosystems, 23 19 variable number of GATA repeats. Sequencing of DYS19 was preformed Foster City, CA, USA) as previously described. Sequence Detection Systems utilizing primers as described by Hammer and Horai.24 DYS199 is a 2.2 software (Applied Biosystems) was utilized for allele determination. Y-chromosome polymorphism with 490% prevalence of the ‘T’ allele in Genotypes were entered into a Progeny database (Progeny Software, LLC, Amerindian populations.25 Sequencing of DYS199 was performed utilizing South Bend, IN, USA). The overall approach mirrored previously reported primers as described by Underhill et al.25 studies.19,20 Candidate genes were selected through the literature review of biological pathways implicated in PTB. Attempts were made to replicate significant results from genetic studies of preterm neonates at the University Statistical analysis of Iowa. The genes/SNPs studied are shown in Table 1. SNP genotype data were analyzed for non-Mendelian inheritance utilizing PedCheck.26 Fetal and maternal associations with PTB were determined using the Family Based Association Test27,28 and PLINK software (version 1.07).29 When multiple SNPs were tested in a gene, haplotype analysis was Table 1. Candidate genes performed using Family Based Association Test. Maternal and paternal allelic transmissions were separately analyzed using PLINK to investigate Gene Chromosome SNP marker(s) parental differences in transmission. GA and birth weight (BW) were evaluated as continuous variables for SNP associations. GA was also LRP8 1p32.3 rs3737983 evaluated in 4-week windows to determine allelic frequency at specific PCSK9 1p32.3 rs11591147 intervals of gestation. Given that analysis was completed for four KCNN3 1q21.3 rs883319 independent tests (fetal affected status, maternal affected status, GA and CFHR1 1q31.1 rs800292 BW), formal Bonferroni correction for multiple testing in this study at an a EPHX1 1q42.12 rs1009668 level
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