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Background Preterm birth (PTB) is the leading cause of perinatal morbimortality worldwide. Genetic and environmental factors could raise PTB risk. The aim of this study was to analyze the contribution of the statistical interaction between genes and vaginal-urinary tract infections (VI-UTI) to the risk of PTB by clinical subtype. Methods Twenty-four SNPs were genotyped in 18 candidate genes from 352 fetal triads and 106 maternal triads. Statistical interactions were evaluated with conditional logistic regression models based on genotypic transmission/disequilibrium test. Results In PTB-idiopathic subtype mothers exposed to UTI, fetal SNPs rs11686474 (FSHR), rs4458044 (CRHR1, allele G), rs883319 (KCNN3), and maternal SNP rs1882435 (COL4A3) showed a nominal significant increment in prematurity risk. In preterm premature rupture of membranes (PPROM), fetal SNP rs2277698 (TIMP2) showed a nominal significant risk increment. In mothers exposed to VI, fetal SNP rs5742612 (IGF1) in PTB-PPROM and maternal SNP rs4458044 (CRHR1, allele C) in spontaneous PTB showed nominal significant increment in prematurity risk. Conclusions Certain maternal and fetal genes linked to infectious/inflammatory and hormonal regulation processes increase prematurity risk according to clinical subtype when mothers are exposed to UTI or VI. These findings may help in the understanding of PTB etiology and PTB prevention. Impact Preterm birth is a major cause of perinatal morbimortality worldwide and its etiology remains unknown.This work provides evidence on the statistical interaction of six genes with gestational vaginal or urinary infections leading to the occurrence of preterm births. Statistical interactions vary according to infection type, genotype (maternal and fetal), and clinical subtype of prematurity.Certain maternal and fetal genetic variants of genes linked to infectious/inflammatory and hormonal regulation processes would increase the risk of prematurity according to clinical subtype and infection type.Our findings may help in the study of etiology of preterm birth and its prevention.

Dear Sirs: The letter by Dr. Athey entitled “Comments on the article, “Software for Y-Haplogroup Predictions, a Word of Caution” discusses a paper of our authoring in the present Journal [1]. Though at first glance his opinion may seem reasonable, a careful analysis reveals a series of mistakes committed by Dr. Athey. In the mentioned letter, one of the main concerns of Dr. Athey is the amount of short tandem repeats (STRs) that were analyzed. He comments that seven markers should be avoided, explaining that an increase of that amount augments the probability of assignment, stating that “With the addition of a sufficient number of markers, the prediction probability for the correct haplogroup can be ‘driven’ past 99% in nearly all cases, and this almost always occurs by the point where 20 markers have been used.” Nonetheless, he does not make reference to any sort of validation study, so said 99% must only refer to the probability of assignment his own software provides. What is more, Dr. Athey seems oblivious that our paper examined this software’s predictive values in different cutoff points, up to 95% of probability of assignment, still obtaining inadequate predictive values on said cutoff point. Twelve of our haplotypes proposed from 100% to 99.6% probability of assignment to the R1b haplogroup in the Haplogroup Predictor, while none of those samples belong to the said haplogroup. In the R haplogroup, one haplotype gives 99.8% probability to an erred haplogroup (E1b1b), while 14 give from 100% to 99.4%, assigning these samples to the R1b haplogroup, and were considered as correct predictions. Note that in these cases, the predicted haplogroup follows the nomenclature of the software, and the probability was not pooled by major branches. If the seven markers of the minimal haplotype were not a proper set, Dr. Athey’s software should not provide such high probabilities of assignment in these cases, since it misleads the user. Unfortunately, Dr. Athey’s mention that seven Y-STRs are too few occurs only in his letter; neither of the two papers of his authoring [2, 3] available at the Haplogroup Predictor’s website (http:// www.hprg.com/hapest5/) nor the software instructions (http://www.hprg.com/hapest5/page4.html) explain that the user should employ more than seven markers. Otherwise, we would not have attempted to use it. Moreover, a simple glance at recent literature where the Haplogroup Predictor was employed clearly shows that researchers do not use such high amounts of Y-STRs when they rely on the Haplogroup Predictor; for instance, Salas et al. [4] used the seven Y-STRs we did, plus DYS 385 and Petrejcikova et al. [5] only 12 Y-STRs. His statement “...indeed, the seven-marker dataset apparently resulted from a study carried out over five M. Muzzio :V. Ramallo : J. M. B. Motti :M. R. Santos : J. S. Lopez Camelo :G. Bailliet Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologia Celular (IMBICE), CICPBA, CCT, La Plata–CONICET, La Plata, Argentina

Durante el año 2005, se realizaron dos viajes de campaña a comunidades Wichí cercanas a las localidades de Ingeniero Juárez y Laguna Yema (provincia de Formosa, Argentina), como parte del proyecto multidisciplinario “De las historias étnicas a la prehistoria en el Gran Chaco”. Partiendo del planteo metodológico de unidad poblacional, se obtuvieron datos genéticos en 93 muestras utilizando marcadores binarios y microsatélites del cromosoma Y, determinando haplogrupos y haplotipos masculinos. El haplogrupo Q1a3a, natural del continente americano, resultó mayoritario en ambas localidades (72,7 % y 81,6 %). Los linajes moleculares se compararon con la diversidad de apellidos registrada y las posibles vinculaciones entre las comunidades Wichís se analizaron por redes “median joining”, encontrando una variabilidad de linajes coherente con la distribución de las parcialidades del “complejo étnico Wichí” propuesto por Braunstein., During the year 2005, as part of the multidisciplinary project “Of the ethnic histories to the prehistory of the Gran Chaco”, two field trips to the wichi communities nearing the locations of Ingeniero Juarez and Laguna Yema (Formosa province, Argentina) were made. From the methodological proposal of a population unit, genetic data in 93 samples, employing binary markers and microsatellites of the Y-chromosome were obtained, determining male haplogroups and haplotypes. The Q1a3a haplogroup, native of the American continent, resulted the most common in both locations (72,7% and 81,6%). The molecular lineages were compared with the registered surname diversity and the possible links between the wichi communities were analyzed through “median joining” networks, finding a lineage variability that is reasonable given the distribution of the partialities of the “wichi ethnic complex” proposed by Braunstein., Instituto Multidisciplinario de Biología Celular

Y-chromosome haplogroups constructed from SNP markers of Y-specific regions have been largely used in population genetic trials. These data might also be applied to forensic studies on human populations showing multiethnic admixture. Haplogroups have evidenced differential ethnic and geographic distribution. The objective of the present report was to analyze 775 male samples for 16 Y-SNP by PCR-RFLP and to describe haplogroup frequencies in three Argentine geographic regions: Central-West (Cuyo), Center, and North-West.