BackgroundDespite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified. We used large data sets that included the gestational duration to determine possible genetic associations. MethodsWe performed a genomewide association study in a discovery set of samples obtained from 43,568 women of European ancestry using gestational duration as a continuous trait and term or preterm (<37 weeks) birth as a dichotomous outcome. We used samples from three Nordic data sets (involving a total of 8643 women) to test for replication of genomic loci that had significant genomewide association (P<5.0×10−8) or an association with suggestive significance (P<1.0×10−6) in the discovery set. ResultsIn the discovery and replication data sets, four loci (EBF1, EEFSEC, AGTR2, and WNT4) were significantly associated with gestational duration. Functional analysis showed that an implicated variant in WNT4 alters the bind...

/pdf/genetic-associations-with-gestational-duration-and-5d3u847vda.pdf

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth

OBJECTIVE Recent studies have demonstrated an association between low birth weight and chronic and metabolic disorders in adulthood such as type 2 diabetes, hypertension, and dyslipidemia. These disorders tend to cluster in a condition known as the metabolic syndrome (syndrome X). Only two studies have reported an association of birth weight to the metabolic syndrome. The present study is distinguished as the only study to focus on postmenopausal women. RESEARCH DESIGN AND METHODS Subjects were 303 community-dwelling, postmenopausal Caucasian women aged 50–84 years. Metabolic and anthropometric variables were measured at a clinic visit; birth weight was assessed by self-report on a mailed questionnaire. RESULTS The metabolic syndrome, defined as the simultaneous presence of hypertension, dyslipidemia, and abnormal glucose tolerance, was present in 7.9% of these women. Compared with women in the highest birth weight tertile (8.1–13.0 lb, mean 9.4 lb), those in the lowest birth weight tertile (2.5–6.8 lb, mean 5.5 lb) exhibited an increased prevalence (12.0 vs. 4.3%, P 25.2 kg/m 2 ) or waist circumference (>80.7 cm) had the highest prevalence of the metabolic syndrome (∼30%). CONCLUSIONS Low birth weight coupled with adult obesity is a strong determinant of the metabolic syndrome in postmenopausal women.

Birth Weight, Adult Weight, and Girth as Predictors of the Metabolic Syndrome in Postmenopausal Women: The Rancho Bernardo Study

OBJECTIVE: The authors report on a systematic twin study of index twins suffering from schizophrenia spectrum psychoses. Using different diagnostic systems, they examined twin concordance, family history, and the frequency and severity of the birth complications of 22 monozygotic and 23 dizygotic twin pairs. METHOD: All twins in the region of Lower Franconia, Germany, born after 1930 and hospitalized for psychiatric disease were ascertained. The zygosity diagnoses were based on molecular genetic methodology and a zygosity questionnaire. Two psychiatrists, working independently, formulated diagnoses according to DSM-III-R criteria and Leonhard's nosology. RESULTS: There were substantially different concordance rates with regard to diagnostic subgroups, and monozygotic concordance was significantly higher than dizygotic concordance in only two of the following five subgroups (subgroups 1 and 3): 1) strict schizophrenia according to DSM-III-R: monozygotic, 85.7%, dizygotic, 25.0% 2) schizophreniform, schizoa...

Different Genetic Background of Schizophrenia Spectrum Psychoses: A Twin Study

Objectives. Twin studies present a unique opportunity to examine the association of birth weight with adult life phenotypes in a design that naturally accounts for maternal factors and a range of early environmental factors, which might potentially bias the association. In this study, we explored the association of birth weight with osteoporosis (OP) and osteoarthritis (OA), in a large national cohort of female twins. Methods. Intra-pair differences between the reported birth weight of the twins (n=4008) were examined for an association with: (i) intra-pair differences in bone mineral density (BMD) and bone mineral content (BMC) at the lumbar spine, hip and forearm using linear regression; and (ii) osteoarthritis status in pairs discordant for radiographic disease at the hand, hip and knee using matched logistic regression. The confounding influences of height and weight were taken into account. Results. The mean age of the twins was 47.5"12.3 yr. Intra-pair differences in birth weight were significantly associated with BMD at the spine (P=0.047), total hip (P=0.016) and femoral neck (P<0.001), but not at the forearm (P=0.245). These were entirely explained by the birth weight association with height and weight. The associations of intra-pair differences in birth weight and BMC were highly significant (P<0.001) at all sites, but were partly explained by adjustment for adult height and weight. We found no clear association between intra-pair birth weight differences and OA in twins discordant for any of the radiographic OA phenotypes at any site. Conclusions. Bone mass and especially BMC are highly associated with birth weight. These associations are accounted for mainly by environmental factors that are independent of maternal factors such as gestational age, maternal smoking and nutrition, and are largely mediated by skeletal size and particularly adult height. Birth weight does not appear to be a major influence on the later development of radiographic OA in women.

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Association of birth weight with osteoporosis and osteoarthritis in adult twins

Many researchers and professionals need to be able to measure, assess and interpret human growth between birth and adulthood. However, much of the methodology is scattered in diverse literature. Human Growth: Assessment and Interpretation provides a complete reference to the field for all those who measure and assess child growth. It emphasises the interpretation of growth data taking into account the adjusted effects of influences such as genes, hormones and substance abuse during pregnancy, gives descriptions of normal and abnormal growth patterns, and of variant growth patterns such as failure-to-thrive and catch-up growth. Including methods to measure size and maturity, the judgement and interpretation of recorded data, evaluations of influences on growth and the significance of abnormal growth, it will be an essential source of information for pediatricians, human biologists, health workers, nutritionists, epidemiologists and others who are responsible for the health and welfare of children.

/pdf/human-growth-assessment-and-interpretation-3u955l858k.pdf

Human Growth: Assessment and Interpretation

Birthweight and gestational age estimates made by research subjects were compared with values obtained from birth certificates and hospital records. Ninety-one per cent of mothers' estimates of their infant's birthweight and 88 per cent of their estimates of infant gestational age agreed with the delivery record. When the same mothers estimated their own and their husband's birthweight, only 44 per cent were in agreement with birth certificate values; however, 78 per cent were in agreement with the pounds portion of the weight. Agreement of mothers' estimates of her own and her husband's gestational age with birth certificates was no better than chance.

Birthweight and gestational age: mothers' estimates compared with state and hospital records.

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Birthweight and gestational age: mothers' estimates compared with state and hospital records.