Pub Date : 2024-08-01Epub Date: 2024-11-07DOI: 10.1017/thg.2024.35
Eesha Dave, Mert Ozan Bahtiyar, William Campbell, Raffaella Morotti, Katherine Kohari
Placental vascular anastomoses are traditionally thought to exist exclusively in monochorionic pregnancies. However, they have been reported in dichorionic twin pregnancies as well. In turn, twin to twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) have also been noted to impact some of these gestations. Through discussion of one such case at our institution along with a review of the available literature, we review the proposed pathophysiology of placental vascular anastamoses in dichorionic twin gestations, and aim to raise awareness of the possibility of associated pathologies in dichorionic gestations. This is an emerging area of literature that will require future study to guide prenatal surveillance and mitigate morbidity.
{"title":"Placental Vascular Anastamoses and Associated Pathologies in Dichorionic Twin Gestations.","authors":"Eesha Dave, Mert Ozan Bahtiyar, William Campbell, Raffaella Morotti, Katherine Kohari","doi":"10.1017/thg.2024.35","DOIUrl":"10.1017/thg.2024.35","url":null,"abstract":"<p><p>Placental vascular anastomoses are traditionally thought to exist exclusively in monochorionic pregnancies. However, they have been reported in dichorionic twin pregnancies as well. In turn, twin to twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) have also been noted to impact some of these gestations. Through discussion of one such case at our institution along with a review of the available literature, we review the proposed pathophysiology of placental vascular anastamoses in dichorionic twin gestations, and aim to raise awareness of the possibility of associated pathologies in dichorionic gestations. This is an emerging area of literature that will require future study to guide prenatal surveillance and mitigate morbidity.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"251-255"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-10-02DOI: 10.1017/thg.2024.30
Daniel Yeom, Nick Haslam, Yi Ting Tan, Gary E McPherson, Sarah J Wilson
As with many other musical traits, the social environment is a key influence on the development of singing ability. While the familial singing environment is likely to be formative, its role relative to other environmental influences such as training is unclear. We used structural equation modeling to test relationships among demographic characteristics, familial environmental variables (early and current singing with family), vocal training, and singing ability in a large, previously documented sample of Australian twins (N = 1163). Notably, early singing with family, and to a lesser extent vocal training, predicted singing ability, whereas current singing with family did not. Early familial singing also mediated the relationship between sex and singing ability, with men who sang less with family during childhood showing poorer ability. Bivariate twin models between early familial singing and singing ability showed the phenotypic correlation was largely explained by shared environmental influences. This raises the possibility of a sensitive period for singing ability, with sociocultural expectations around singing potentially differentiating the developmental trajectories of this skill for men and women.
{"title":"Twin Data Support a Sensitive Period for Singing Ability.","authors":"Daniel Yeom, Nick Haslam, Yi Ting Tan, Gary E McPherson, Sarah J Wilson","doi":"10.1017/thg.2024.30","DOIUrl":"10.1017/thg.2024.30","url":null,"abstract":"<p><p>As with many other musical traits, the social environment is a key influence on the development of singing ability. While the familial singing environment is likely to be formative, its role relative to other environmental influences such as training is unclear. We used structural equation modeling to test relationships among demographic characteristics, familial environmental variables (early and current singing with family), vocal training, and singing ability in a large, previously documented sample of Australian twins (<i>N</i> = 1163). Notably, early singing with family, and to a lesser extent vocal training, predicted singing ability, whereas current singing with family did not. Early familial singing also mediated the relationship between sex and singing ability, with men who sang less with family during childhood showing poorer ability. Bivariate twin models between early familial singing and singing ability showed the phenotypic correlation was largely explained by shared environmental influences. This raises the possibility of a sensitive period for singing ability, with sociocultural expectations around singing potentially differentiating the developmental trajectories of this skill for men and women.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"204-214"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-10-02DOI: 10.1017/thg.2024.31
Geeta Bhardwaj, Moonjelly V Smitha
The global rise in twinning rates poses health challenges due to increased risks for infants and mothers. Despite the benefits, breastfeeding rates among multiples are low, with exclusive breastfeeding (EBF) particularly scarce compared to singletons. Our study focuses on the mothers of twins in a unique population in Kodinhi village, Kerala, India, known for its high twinning rates, which aims to contribute to existing knowledge of breastfeeding practices and perspectives in a high twinning environment and offer valuable insights to promote optimal breastfeeding among mothers of twins. A retrospective cross-sectional survey was adopted. Seventy-five mothers with twins under 3 years of age from Kodinhi and neighboring areas were interviewed face to face using structured validated tools. Data collection focused on quantitative data supplemented by narrative descriptions. Most women delivered preterm (57.3%), operative delivery (58.7%), and had a late initiation of breastfeeding (32.9% within 24 hours). Colostrum feed was common (86.7%). The EBF rate was 4%, with 47.9% initiating nonexclusive breastfeeding before 3 months, and most of the twins (46.6%) were breastfed for 1-2 years. Fatigue (69.9%) and low milk supply (38.7%) were chief concerns. While 16.4% of mothers opted for a tandem breastfeeding technique, many preferred consecutive feeding as tandem was challenging. Mothers in Kodinhi demonstrated commendable efforts in breastfeeding twins; despite the low rate of EBF, breastfeeding extended to 1-2 years. Evidence-based interventions and personalized support, primarily focusing on maternal perspectives of milk insufficiency, fatigue and breastfeeding techniques, are crucial for sustaining optimal breastfeeding practices among mothers of twins.
{"title":"Breastfeeding Practices in the Twin Town of India - A Cross-Sectional Study.","authors":"Geeta Bhardwaj, Moonjelly V Smitha","doi":"10.1017/thg.2024.31","DOIUrl":"10.1017/thg.2024.31","url":null,"abstract":"<p><p>The global rise in twinning rates poses health challenges due to increased risks for infants and mothers. Despite the benefits, breastfeeding rates among multiples are low, with exclusive breastfeeding (EBF) particularly scarce compared to singletons. Our study focuses on the mothers of twins in a unique population in Kodinhi village, Kerala, India, known for its high twinning rates, which aims to contribute to existing knowledge of breastfeeding practices and perspectives in a high twinning environment and offer valuable insights to promote optimal breastfeeding among mothers of twins. A retrospective cross-sectional survey was adopted. Seventy-five mothers with twins under 3 years of age from Kodinhi and neighboring areas were interviewed face to face using structured validated tools. Data collection focused on quantitative data supplemented by narrative descriptions. Most women delivered preterm (57.3%), operative delivery (58.7%), and had a late initiation of breastfeeding (32.9% within 24 hours). Colostrum feed was common (86.7%). The EBF rate was 4%, with 47.9% initiating nonexclusive breastfeeding before 3 months, and most of the twins (46.6%) were breastfed for 1-2 years. Fatigue (69.9%) and low milk supply (38.7%) were chief concerns. While 16.4% of mothers opted for a tandem breastfeeding technique, many preferred consecutive feeding as tandem was challenging. Mothers in Kodinhi demonstrated commendable efforts in breastfeeding twins; despite the low rate of EBF, breastfeeding extended to 1-2 years. Evidence-based interventions and personalized support, primarily focusing on maternal perspectives of milk insufficiency, fatigue and breastfeeding techniques, are crucial for sustaining optimal breastfeeding practices among mothers of twins.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"241-250"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01Epub Date: 2024-10-03DOI: 10.1017/thg.2024.36
Tasuku Okui, Naoki Nakashima
This present study investigated the parental characteristics of multiple births using national birth data in Japan. This study included birth data from Vital Statistics: Occupational and Industrial Aspects every five fiscal years from 1995 to 2020. The multiple birth rates were defined as the number of live-birth deliveries with multiple fetuses (e.g., twins, triplets) per total live-birth deliveries. Parental ages, nationalities, occupations and household occupation (occupation of the top earner of the household) were considered as parental characteristics. The multiple birth rates were calculated based on parental characteristics for each year, and a log-binomial regression model was used to assess the association between parental characteristics and multiple births. The multiple birth rate for Japanese mothers consistently exceeded that for non-Japanese mothers over the years, and the rate increased progressively from manual workers to lower non-manual workers and then to upper non-manual workers for both maternal and paternal occupations. The regression results indicated that the risk ratio (RR) for multiple births among non-Japanese mothers was significantly lower than that among Japanese mothers. Moreover, concerning household occupation, the RRs of self-employed individuals, full-time employees at smaller companies, others, and the unemployed were significantly lower than those of full-time employees at larger companies. Furthermore, the RRs of lower non-manual and manual workers were significantly lower than those of upper non-manual workers in maternal and paternal occupations. The results suggested an association between multiple births and parental socioeconomic status in Japan.
{"title":"Exploring the Link Between Parental Sociodemographic Characteristics and Multiple Births: Insights from National Birth Data in Japan, 1995-2020.","authors":"Tasuku Okui, Naoki Nakashima","doi":"10.1017/thg.2024.36","DOIUrl":"10.1017/thg.2024.36","url":null,"abstract":"<p><p>This present study investigated the parental characteristics of multiple births using national birth data in Japan. This study included birth data from Vital Statistics: Occupational and Industrial Aspects every five fiscal years from 1995 to 2020. The multiple birth rates were defined as the number of live-birth deliveries with multiple fetuses (e.g., twins, triplets) per total live-birth deliveries. Parental ages, nationalities, occupations and household occupation (occupation of the top earner of the household) were considered as parental characteristics. The multiple birth rates were calculated based on parental characteristics for each year, and a log-binomial regression model was used to assess the association between parental characteristics and multiple births. The multiple birth rate for Japanese mothers consistently exceeded that for non-Japanese mothers over the years, and the rate increased progressively from manual workers to lower non-manual workers and then to upper non-manual workers for both maternal and paternal occupations. The regression results indicated that the risk ratio (RR) for multiple births among non-Japanese mothers was significantly lower than that among Japanese mothers. Moreover, concerning household occupation, the RRs of self-employed individuals, full-time employees at smaller companies, others, and the unemployed were significantly lower than those of full-time employees at larger companies. Furthermore, the RRs of lower non-manual and manual workers were significantly lower than those of upper non-manual workers in maternal and paternal occupations. The results suggested an association between multiple births and parental socioeconomic status in Japan.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"223-230"},"PeriodicalIF":1.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Immunity activation and inflammation are the main characteristics of rheumatoid arthritis and clonal hematopoiesis. However, it remains unclear whether rheumatoid arthritis increase the risk of clonal hematopoiesis. Here, a Mendelian randomization (MR) analysis was conduct to explore the causal effects of rheumatoid arthritis on clonal hematopoiesis. Summary statistics data of rheumatoid arthritis (13,838 cases and 33,742 controls) and clonal hematopoiesis (10,203 cases and 173,918 controls) derived from a genomewide association study were selected to analyze. We selected inverse-variance weighted, MR-Egger, weighted median, simple mode, and weighted mode to evaluate the causal effect of rheumatoid arthritis on clonal hematopoiesis. The two-sample MR analysis suggested a strong causal relationship between rheumatoid arthritis and clonal hematopoiesis by inverse-variance weighted (OR = 1.002311673, 95% CI [1.000110757, 1.004517433], p = .039706) and weighted median (OR = 1.002311673, 95% CI [1.000110757, 1.004517433], p = .039518447) methods. No significant pleiotropy or heterogeneity was found in the sensitivity analysis. These results supported a potentially causal relationship between rheumatoid arthritis and clonal hematopoiesis, and the exposure of rheumatoid arthritis increased the risks of clonal hematopoiesis. Our findings highlight the importance of how chronic inflammation and immune activation induced rheumatoid arthritis enhances the risks of clonal hematopoiesis, and that early intervention with rheumatoid arthritis patients might reduce the clonal hematopoiesis risks in rheumatoid arthritis patients. Moreover, our study provides clues for prediction of risk factors and potential mechanisms of clonal hematopoiesis.
{"title":"Association Between Rheumatoid Arthritis and Clonal Hematopoiesis: A Mendelian Randomization Study.","authors":"Jie Zhang, Chun Zhou, Shaoxing Guan","doi":"10.1017/thg.2024.24","DOIUrl":"https://doi.org/10.1017/thg.2024.24","url":null,"abstract":"<p><p>Immunity activation and inflammation are the main characteristics of rheumatoid arthritis and clonal hematopoiesis. However, it remains unclear whether rheumatoid arthritis increase the risk of clonal hematopoiesis. Here, a Mendelian randomization (MR) analysis was conduct to explore the causal effects of rheumatoid arthritis on clonal hematopoiesis. Summary statistics data of rheumatoid arthritis (13,838 cases and 33,742 controls) and clonal hematopoiesis (10,203 cases and 173,918 controls) derived from a genomewide association study were selected to analyze. We selected inverse-variance weighted, MR-Egger, weighted median, simple mode, and weighted mode to evaluate the causal effect of rheumatoid arthritis on clonal hematopoiesis. The two-sample MR analysis suggested a strong causal relationship between rheumatoid arthritis and clonal hematopoiesis by inverse-variance weighted (<i>OR</i> = 1.002311673, 95% CI [1.000110757, 1.004517433], <i>p</i> = .039706) and weighted median (<i>OR</i> = 1.002311673, 95% CI [1.000110757, 1.004517433], <i>p</i> = .039518447) methods. No significant pleiotropy or heterogeneity was found in the sensitivity analysis. These results supported a potentially causal relationship between rheumatoid arthritis and clonal hematopoiesis, and the exposure of rheumatoid arthritis increased the risks of clonal hematopoiesis. Our findings highlight the importance of how chronic inflammation and immune activation induced rheumatoid arthritis enhances the risks of clonal hematopoiesis, and that early intervention with rheumatoid arthritis patients might reduce the clonal hematopoiesis risks in rheumatoid arthritis patients. Moreover, our study provides clues for prediction of risk factors and potential mechanisms of clonal hematopoiesis.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.
{"title":"Twins Standing in for Co-Twins: Explanation and Speculation/Twin Research Reviews: Single v. Multiple Embryo Transfer; Neurimaging of Twins with Periventricular Nodular Heterotopia; Twin Dietary Study; New Hungarian Text on Twins/Human Interest: Valedictorian and Salutatorian Twins; Twin Mother at Age Seventy; Twins Reunited by Tiktok; New Film on Twins with Selective Mutism; Becoming Twin Doctors.","authors":"Nancy L Segal","doi":"10.1017/thg.2024.22","DOIUrl":"https://doi.org/10.1017/thg.2024.22","url":null,"abstract":"<p><p>An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Researchers have proposed that culture significantly influences perceived stress (PS). To date, however, twin studies on PS have been conducted mostly in western, individualistic cultures, which demonstrate that PS due to controllable (personal) life events is more heritable than PS due to uncontrollable (network) life events. This study aimed to investigate genetic and environmental influences on PS in South Korean twins. South Korea practices a dominant collectivist culture. In total, 1372 twin individuals (mean age = 22.4 ± 2.5 years) completed an online survey on PS, which consisted of the scales, Friendship, Academic Stress, Future Career, Family Conflicts, and Family Financial Difficulties (FFD). Friendship, Academic Stress, and Future Career can be considered PS due to personal life events, and Family Conflict and FFD, PS due to network life events. The general sex-limitation model-fitting analysis revealed the absence of qualitative or quantitative sex differences in genetic and environmental influences. Specifically, additive genetic influences were predominant for Friendship (63%), Academic Stress (67%), and Future Career (57%) for both sexes, with the remaining variance attributable to nonshared environmental influences. In contrast, shared environmental influences were largest for Family Conflict (47% for both genders) and FFD (64% for males, 63% for females) with no significant genetic effects. Despite known cultural differences in the means and variances of PS, South Korean twins exhibited significant genetic effects in PS due to personal life events and large shared environmental effects in PS due to network life events, which is similar to western samples.
{"title":"Genetic and Environmental Influences on Perceived Stress in South Korean Twins","authors":"Gwanwoo Jo, Yoon-Mi Hur","doi":"10.1017/thg.2024.21","DOIUrl":"https://doi.org/10.1017/thg.2024.21","url":null,"abstract":"Researchers have proposed that culture significantly influences perceived stress (PS). To date, however, twin studies on PS have been conducted mostly in western, individualistic cultures, which demonstrate that PS due to controllable (personal) life events is more heritable than PS due to uncontrollable (network) life events. This study aimed to investigate genetic and environmental influences on PS in South Korean twins. South Korea practices a dominant collectivist culture. In total, 1372 twin individuals (mean age = 22.4 ± 2.5 years) completed an online survey on PS, which consisted of the scales, Friendship, Academic Stress, Future Career, Family Conflicts, and Family Financial Difficulties (FFD). Friendship, Academic Stress, and Future Career can be considered PS due to personal life events, and Family Conflict and FFD, PS due to network life events. The general sex-limitation model-fitting analysis revealed the absence of qualitative or quantitative sex differences in genetic and environmental influences. Specifically, additive genetic influences were predominant for Friendship (63%), Academic Stress (67%), and Future Career (57%) for both sexes, with the remaining variance attributable to nonshared environmental influences. In contrast, shared environmental influences were largest for Family Conflict (47% for both genders) and FFD (64% for males, 63% for females) with no significant genetic effects. Despite known cultural differences in the means and variances of PS, South Korean twins exhibited significant genetic effects in PS due to personal life events and large shared environmental effects in PS due to network life events, which is similar to western samples.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"86 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140832530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Brisa García-Vilchis, Talia V. Román-López, Diego Ramírez-González, Xanat J. López-Camaño, Vanessa Murillo-Lechuga, Xóchitl Díaz-Téllez, C. Itzamná Sánchez-Moncada, Ian M. Espinosa-Méndez, Diego Zenteno-Morales, Zaida X. Espinosa-Valdes, Sofia Pradel-Jiménez, Andrea Tapia-Atilano, Ana V. Zanabria-Pérez, Federica Livas-Gangas, Oscar Aldana-Assad, Ulises Caballero-Sánchez, César A. Dominguez-Frausto, Miguel E. Rentería, Alejandra Medina-Rivera, Sarael Alcauter, Alejandra E. Ruiz-Contreras
TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.
{"title":"TwinsMX: Exploring the Genetic and Environmental Influences on Health Traits in the Mexican Population","authors":"Brisa García-Vilchis, Talia V. Román-López, Diego Ramírez-González, Xanat J. López-Camaño, Vanessa Murillo-Lechuga, Xóchitl Díaz-Téllez, C. Itzamná Sánchez-Moncada, Ian M. Espinosa-Méndez, Diego Zenteno-Morales, Zaida X. Espinosa-Valdes, Sofia Pradel-Jiménez, Andrea Tapia-Atilano, Ana V. Zanabria-Pérez, Federica Livas-Gangas, Oscar Aldana-Assad, Ulises Caballero-Sánchez, César A. Dominguez-Frausto, Miguel E. Rentería, Alejandra Medina-Rivera, Sarael Alcauter, Alejandra E. Ruiz-Contreras","doi":"10.1017/thg.2024.18","DOIUrl":"https://doi.org/10.1017/thg.2024.18","url":null,"abstract":"TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"16 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140833032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hailey A. Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A. Revez, Naomi R. Wray, Bjarni J. Vilhjálmsson, Zhihong Zhu, John J. McGrath, Lea K. Davis
While it is known that vitamin D deficiency is associated with adverse bone outcomes, it remains unclear whether low vitamin D status may increase the risk of a wider range of health outcomes. We had the opportunity to explore the association between common genetic variants associated with both 25 hydroxyvitamin D (25OHD) and the vitamin D binding protein (DBP, encoded by the GC gene) with a comprehensive range of health disorders and laboratory tests in a large academic medical center. We used summary statistics for 25OHD and DBP to generate polygenic scores (PGS) for 66,482 participants with primarily European ancestry and 13,285 participants with primarily African ancestry from the Vanderbilt University Medical Center Biobank (BioVU). We examined the predictive properties of PGS25OHD, and two scores related to DBP concentration with respect to 1322 health-related phenotypes and 315 laboratory-measured phenotypes from electronic health records. In those with European ancestry: (a) the PGS25OHD and PGSDBP scores, and individual SNPs rs4588 and rs7041 were associated with both 25OHD concentration and 1,25 dihydroxyvitamin D concentrations; (b) higher PGS25OHD was associated with decreased concentrations of triglycerides and cholesterol, and reduced risks of vitamin D deficiency, disorders of lipid metabolism, and diabetes. In general, the findings for the African ancestry group were consistent with findings from the European ancestry analyses. Our study confirms the utility of PGS and two key variants within the GC gene (rs4588 and rs7041) to predict the risk of vitamin D deficiency in clinical settings and highlights the shared biology between vitamin D-related genetic pathways a range of health outcomes.
众所周知,维生素 D 缺乏与不良骨质结果有关,但低维生素 D 状态是否会增加更多健康结果的风险,目前仍不清楚。我们有机会在一个大型学术医疗中心探索与 25 羟基维生素 D(25OHD)和维生素 D 结合蛋白(DBP,由 GC 基因编码)相关的常见遗传变异与一系列健康疾病和实验室检测之间的关联。我们使用 25OHD 和 DBP 的汇总统计数据,为范德比尔特大学医学中心生物库 (BioVU) 的 66,482 名主要为欧洲血统的参与者和 13,285 名主要为非洲血统的参与者生成了多基因评分 (PGS)。我们研究了 PGS25OHD 和两个与 DBP 浓度相关的评分对电子健康记录中 1322 种健康相关表型和 315 种实验室测量表型的预测特性。在欧洲血统的人群中:(a) PGS25OHD 和 PGSDBP 评分以及单个 SNPs rs4588 和 rs7041 与 25OHD 浓度和 1,25 二羟维生素 D 浓度相关;(b) PGS25OHD 越高,甘油三酯和胆固醇浓度越低,维生素 D 缺乏症、脂代谢紊乱和糖尿病的风险也越低。总体而言,非洲血统组的研究结果与欧洲血统组的分析结果一致。我们的研究证实了 PGS 和 GC 基因中的两个关键变异(rs4588 和 rs7041)在临床环境中预测维生素 D 缺乏风险的实用性,并强调了维生素 D 相关遗传途径与一系列健康结果之间的共同生物学特性。
{"title":"Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration","authors":"Hailey A. Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A. Revez, Naomi R. Wray, Bjarni J. Vilhjálmsson, Zhihong Zhu, John J. McGrath, Lea K. Davis","doi":"10.1017/thg.2024.19","DOIUrl":"https://doi.org/10.1017/thg.2024.19","url":null,"abstract":"While it is known that vitamin D deficiency is associated with adverse bone outcomes, it remains unclear whether low vitamin D status may increase the risk of a wider range of health outcomes. We had the opportunity to explore the association between common genetic variants associated with both 25 hydroxyvitamin D (25OHD) and the vitamin D binding protein (DBP, encoded by the <jats:italic>GC</jats:italic> gene) with a comprehensive range of health disorders and laboratory tests in a large academic medical center. We used summary statistics for 25OHD and DBP to generate polygenic scores (PGS) for 66,482 participants with primarily European ancestry and 13,285 participants with primarily African ancestry from the Vanderbilt University Medical Center Biobank (BioVU). We examined the predictive properties of PGS<jats:sub>25OHD</jats:sub>, and two scores related to DBP concentration with respect to 1322 health-related phenotypes and 315 laboratory-measured phenotypes from electronic health records. In those with European ancestry: (a) the PGS<jats:sub>25OHD</jats:sub> and PGS<jats:sub>DBP</jats:sub> scores, and individual SNPs rs4588 and rs7041 were associated with both 25OHD concentration and 1,25 dihydroxyvitamin D concentrations; (b) higher PGS<jats:sub>25OHD</jats:sub> was associated with decreased concentrations of triglycerides and cholesterol, and reduced risks of vitamin D deficiency, disorders of lipid metabolism, and diabetes. In general, the findings for the African ancestry group were consistent with findings from the European ancestry analyses. Our study confirms the utility of PGS and two key variants within the <jats:italic>GC</jats:italic> gene (rs4588 and rs7041) to predict the risk of vitamin D deficiency in clinical settings and highlights the shared biology between vitamin D-related genetic pathways a range of health outcomes.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"19 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140634993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"In Memoriam: Dr. Auke Tellegen (July 16, 1930 - March 11, 2024).","authors":"Nancy L Segal","doi":"10.1017/thg.2024.20","DOIUrl":"https://doi.org/10.1017/thg.2024.20","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-3"},"PeriodicalIF":0.9,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}