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  1. Jahanfar S
    Ann Hum Biol, 2018 Aug;45(5):395-400.
    PMID: 30328724 DOI: 10.1080/03014460.2018.1526320
    BACKGROUND: Genetic and environmental influences on anthropometric measures can be investigated by comparing dizygotic (DZ) versus monozygotic (MZ) twins. Investigating cohorts living in different geographical areas across the globe can identify the variation in heritability versus environment.

    AIMS: (1) To investigate the association between birth weight and anthropometric measurements during adulthood; (2) to study the genetic and environmental influences on body measures including birth weight, weight and height among twins; and (3) to assess the variation in heritability versus environment among two cohorts of twins who lived in different geographical areas.

    SUBJECTS AND METHODS: Twins were collected from two twin registers. Data on birth weight, adult weight and height in 430 MZ and 170 DZ twins living in two geographically distinct parts of the world were collected. A genetic analysis was performed using MX software.

    RESULTS: Birth weight was associated with weight, height and BMI. Both MZ and DZ twins with low birth weight had shorter height during their adult life (p = 0.001), but only MZ twins with lower birth weight were lighter at adulthood (p = 0.001). Intra-pair differences in birth weight were not associated with differences in adult height (p = 0.366) or weight (p = 0.796). Additive genetic effects accounted for 53% of the variance in weight, 43% in height and 55% in birth weight. The remaining variance was attributed to unique environmental effects (15% for weight, 13% for height and 45% for birth weight and only 16% for BMI). Variability was found to be different in the two cohorts. The best fitting model for birth weight and BMI was additive genetic and non-shared environment and for weight and height was additive genetic, non-shared environment (plus common Environment).

    CONCLUSIONS: Data suggests that the association between weight at birth and anthropometric measures in later life is influenced by both genetic and environmental factors. Living in different environments can potentially relate to variation found in the environment.

    Matched MeSH terms: Twins, Dizygotic*
  2. Al-Chalabi MMM, Wan Sulaiman WA
    Cureus, 2021 Jan 21;13(1):e12834.
    PMID: 33633877 DOI: 10.7759/cureus.12834
    Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.
    Matched MeSH terms: Twins, Dizygotic
  3. Rietschel L, Streit F, Zhu G, McAloney K, Frank J, Couvy-Duchesne B, et al.
    Sci Rep, 2017 Nov 10;7(1):15351.
    PMID: 29127340 DOI: 10.1038/s41598-017-11852-3
    Hair cortisol concentration (HCC) is a promising measure of long-term hypothalamus-pituitary-adrenal (HPA) axis activity. Previous research has suggested an association between HCC and psychological variables, and initial studies of inter-individual variance in HCC have implicated genetic factors. However, whether HCC and psychological variables share genetic risk factors remains unclear. The aims of the present twin study were to: (i) assess the heritability of HCC; (ii) estimate the phenotypic and genetic correlation between HPA axis activity and the psychological variables perceived stress, depressive symptoms, and neuroticism; using formal genetic twin models and molecular genetic methods, i.e. polygenic risk scores (PRS). HCC was measured in 671 adolescents and young adults. These included 115 monozygotic and 183 dizygotic twin-pairs. For 432 subjects PRS scores for plasma cortisol, major depression, and neuroticism were calculated using data from large genome wide association studies. The twin model revealed a heritability for HCC of 72%. No significant phenotypic or genetic correlation was found between HCC and the three psychological variables of interest. PRS did not explain variance in HCC. The present data suggest that HCC is highly heritable. However, the data do not support a strong biological link between HCC and any of the investigated psychological variables.
    Matched MeSH terms: Twins, Dizygotic
  4. Rahman RA, Mohammed Nawi A, Ishak S, Balaraman K, Abu MA, Abd Azman SH, et al.
    J Perinat Med, 2024 May 27;52(4):385-391.
    PMID: 38511669 DOI: 10.1515/jpm-2023-0449
    OBJECTIVES: To investigate factors associated with outcome of second twin during labour.

    METHODS: The study was a retrospective cohort study in a single tertiary centre in Malaysia from 2014 until 2018 involving all twin pregnancies delivered at or more than 24 weeks of gestation.

    RESULTS: Total of 409 twin pregnancies were included. Dichorionic twin comprises of 54.5 % (n=223) and 45.5 % (n=186) are monochorionic. Women with dichorionic pregnancies are significantly older (p<0.001), have more pre-existing medical disorders (p=0.011) and fetal structural anomalies (p=0.009). Monochorionic pregnancies are significantly more amongst Malay (p=0.01) and conceived spontaneously (p<0.001). There are significantly more fetuses both in cephalic presentation (p=0.026), birthweight discrepancy more than 20 % (p=0.038) and shorter mean inter-twin delivery duration (p=0.048) in monochorionic pregnancies. Second twin delivered with Apgar score <7 is significantly more in dichorionic pregnancies (p=0.006). The second twin is associated with lower birthweight, small for gestational age and arterial cord pH<7.25. Within the group of women who delivered both fetuses vaginally, there was significantly more second twins with intertwin delivery duration less than 30 min who were delivered vaginally without instrumentation (p=0.018). There was significantly more second twin with intertwin delivery duration of 30 min and more with arterial cord pH<7.25 (p=0.045). Those who delivered spontaneously had inter-twin delivery duration within 15-29 min. The outcome of second twin is not influenced by type of twin, gestational age at delivery, inter-twin delivery duration, mode of delivery and presentation at birth.

    CONCLUSIONS: The neonatal outcome for the second twin at birth is not influenced by type of twin, gestational age at delivery, inter-twin delivery duration, mode of delivery and presentation at birth in a cohort managed with non-active management of the second twin in Malaysia.

    Matched MeSH terms: Twins, Dizygotic
  5. Tong M
    Pediatr Dermatol, 1995 Jun;12(2):134-7.
    PMID: 7659639
    Fraternal twins of Malay descent had the Rothmund-Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.
    Matched MeSH terms: Twins, Dizygotic*
  6. Lai MI, Garner C, Jiang J, Silver N, Best S, Menzel S, et al.
    Twin Res Hum Genet, 2010 Dec;13(6):567-72.
    PMID: 21142933 DOI: 10.1375/twin.13.6.567
    Cytotoxic precipitation of free α-globin monomers and its production of reactive oxygen species cause red cell membrane damage that leads to anemia and eventually ineffective erythropoiesis in β-thalassemia. Alpha hemoglobin stabilizing protein (AHSP) was found to bind only to free α-globin monomers creating a stable and inert complex which remains soluble in the cytoplasm thus preventing harmful precipitations. Alpha hemoglobin stabilizing protein was shown to bind nascent α-globin monomers with transient strength before transferring α-globin to β-globin to form hemoglobin tetramer. A classical twin study would be beneficial to investigate the role of genetics and environment in the variation of alpha hemoglobin stabilizing protein expression as this knowledge will enable us to determine further investigations with regards to therapeutic interventions if alpha hemoglobin stabilizing protein is to be a therapeutic agent for β-thalassemia. This study investigates the heritability influence of alpha hemoglobin stabilizing protein expression and factors that may contribute to this. Results indicated that a major proportion of alpha hemoglobin stabilizing protein expression was influenced by genetic heritability (46%) with cis-acting factors accounting for 19% and trans-acting factors at 27%.
    Matched MeSH terms: Twins, Dizygotic/genetics
  7. Hung TH, Hsieh TT, Shaw SW, Kok Seong C, Chen SF
    J Diabetes Investig, 2021 Jun;12(6):1083-1091.
    PMID: 33064935 DOI: 10.1111/jdi.13441
    AIMS/INTRODUCTION: The association between gestational diabetes mellitus (GDM) and adverse maternal and perinatal outcomes in twin pregnancies remains unclear. This study was undertaken to highlight risk factors for GDM in women with dichorionic (DC) twins, and to determine the association between GDM DC twins and adverse maternal and perinatal outcomes in a large homogeneous Taiwanese population.

    MATERIALS AND METHODS: A retrospective cross-sectional study was carried out on 645 women with DC twins, excluding pregnancies complicated by one or both fetuses with demise (n = 22) or congenital anomalies (n = 9), who gave birth after 28 complete gestational weeks between 1 January 2001 and 31 December 2018. Univariable and multiple logistic regression analyses were carried out.

    RESULTS: Maternal age >34 years (adjusted odds ratio 2.52; 95% confidence interval 1.25-5.07) and pre-pregnancy body mass index >24.9 kg/m2 (adjusted odds ratio 2.83, 95% confidence interval 1.47-5.46) were independent risk factors for GDM in women with DC twins. Newborns from women with GDM DC twins were more likely to be admitted to the neonatal intensive care unit (adjusted odds ratio 1.70, 95% confidence interval 1.06-2.72) than newborns from women with non-GDM DC twins. Other pregnancy and neonatal outcomes were similar between the two groups.

    CONCLUSIONS: Advanced maternal age and pre-pregnancy overweight or obesity are risk factors for GDM in women with DC twins. Except for a nearly twofold increased risk of neonatal intensive care unit admission of newborns, the pregnancy and neonatal outcomes for women with GDM DC twins are similar to those for women with non-GDM DC twins.

    Matched MeSH terms: Twins, Dizygotic/statistics & numerical data*
  8. Yang CY, Hoong MF, Li CS, Li WF, You SH, Lee YC, et al.
    Taiwan J Obstet Gynecol, 2021 May;60(3):517-522.
    PMID: 33966739 DOI: 10.1016/j.tjog.2021.03.023
    OBJECTIVE: To evaluate the association between intrauterine growth restriction (IUGR) and the incidence of fetuses with patent ductus arteriosus (PDA) and Hemodynamically significant PDA (Hs-PDA) in dichorionic twins (DC) with selective IUGR.

    MATERIALS AND METHODS: This is an observational cohort study and retrospective case assessment, involved twins born at Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan between 2013 and 2018. DC twins with selective IUGR (sIUGR) were defined as the presence of a birth weight discordance of >25% and a smaller twin with a birth weight below the tenth percentile. PDA was diagnosed using echocardiography between postnatal day 3 and 7. Hs-PDA was defined as PDA plus increased pulmonary circulation, poor systemic perfusion, cardiomegaly, pulmonary edema, or hypotension requiring pharmacotherapeutic intervention.

    RESULT: A total of 1187 twins were delivered during the study period, and 53 DC twins with selective IUGR were included in this study. DC twins with PDA have higher rate of preterm birth, lower gestational age of delivery, and lower mean birth weight of both twins compared with DC twins without PDA. In a comparison of the sIUGR twin with the appropriate for gestational age co-twin, both the incidences of PDA (28.30% vs. 7.55%, respectively; P = 0.003) and Hs-PDA (24.53% vs. 5.66%, respectively; P = 0.002) were higher in sIUGR fetuses than in the appropriate for gestational age co-twins. Small gestational age of delivery was the only variable to predict PDA and Hs-PDA [p = 0.002, Odds ratio = 0.57 (0.39-0.82), p = 0.009, Odds ratio = 0.71 (0.55-0.92), respectively].

    CONCLUSION: An analysis of dichorionic twins with sIUGR indicated that IUGR increased the risk of PDA and hemodynamically significant PDA.

    Matched MeSH terms: Twins, Dizygotic
  9. Jahanfar Sh, Maleki H, Mosavi AR
    Med J Malaysia, 2005 Oct;60(4):441-6.
    PMID: 16570705
    The genetic property of subclinical eating behaviour (SEB) and the link between SEB and polycystic ovary syndrome (PCOS) has been studied before but the role of leptin within this connection has never been investigated. The objective of this study was 1). to study the genetic property of SEB. 2). To find a link between leptin, SEB and PCOS. One hundred and fifty four (77 pairs) female-female Iranian twins including 96 MZ individuals (48 pairs) and 58 DZ individuals (29 pairs) participated in the study. Clinical, biochemical and ultrasound tools were used to diagnose polycystic ovary syndrome. BITE questionnaire was filled out for subjects. Eight percent of subjects were diagnosed for subclinical eating disorder. No significant difference was found between intraclass correlation of MZ and DZ (z = 0.57, P = 0.569). Serum leptin level correlated significantly with bulimia score (P < 0.007). The mean (+/-SD) value for bulimia score was found to be higher among PCOS(positive) subjects (3.27 +/- 5.51) in comparison with PCOS(negative) subjects (2.06 +/- 4.48) (P < 0.001). The genetic property of subclinical eating disorder was not confirmed as shared environment might have played a major role in likeliness of DZ twins as well as MZ. Leptin is linked with both subclinical eating disorder and PCOS.
    Matched MeSH terms: Twins, Dizygotic
  10. Balraj P, Concannon P, Jamal R, Beghini A, Hoe TS, Khoo AS, et al.
    Mutat Res, 2002 Oct 31;508(1-2):99-105.
    PMID: 12379465
    Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice junctions. We report the first homozygous mutation in RECQ4 helicase: 2746-2756-delTGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. We report also a 5321 G-->A transition in exon 17 and the updated list of the RECQ4 gene mutations.
    Matched MeSH terms: Twins, Dizygotic
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