HLA Haplotypes in Dizygotic Twin Pairs: Are Dizygotic Twins More Similar Than Sibs?

Twin Research ◽  
2002 ◽  
Vol 5 (4) ◽  
pp. 287-288 ◽  
Author(s):  
Ingrid Louise Titlestad ◽  
Kirsten Ohm Kyvik ◽  
Tom Kristensen ◽  
Søren Lillevang
Keyword(s):  
Dna Typing ◽  
Polymorphic Markers ◽  
Dizygotic Twin ◽  
Haplotype Sharing ◽  
Chi Square ◽  
Twin Registry ◽  
Hla Type ◽  
Chi Square Test ◽  
Hla Haplotypes ◽  
Danish Twin

AbstractIt has been suggested that dizygotic twin pairs share two HLA haplotypes more often than ordinary siblings and thus might be genetically more alike. We tested this hypothesis in dizygotic twin pairs from the Danish Twin Registry. A total of 114 (60 female and 54 male) same-sexed healthy twin pairs aged 18–45 years participated. Dizygosity was established by means of DNA sequencing of nine polymorphic markers. HLA-A, B and Cw specificities were typed with serology, and if data were inconclusive, with DNA typing. If twin partners had the same HLA-types, they were assumed to share two haplotypes. If they had 1 HLA A, B and C antigen group in common they were assumed to share one haplotype and if they had no HLA types in common they were assumed to share zero haplotypes. Since HLA-types from parents were unavailable we could not test for identity-by-descent and thus had a risk of overestimating the number of twins sharing two haplotypes. A Chi-square test was used to compare observed numbers in each haplotype sharing group with the expected numbers. Twenty-nine (expected 28.5) twin pairs had two HLA-types in common, 52 (expected 57) had one HLA-type in common and 33 (expected 28.5) had zero HLA-types in common, p = 0.56. Our data show that DZ twins are not more similar than sibs from different pregnancies in general.

Correlation of HLA-B*35 and DRB1*11 alleles with a high risk of interstitial aseptic pneumonitis in cancer patients receiving PD-1/PDL1 immune-checkpoint blockade.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e15094-e15094
Author(s):  
Pierpaolo Correale ◽  
Rita Emilena Saladino ◽  
Giovanna Bianco ◽  
Alessia Stranges ◽  
Diana Giannarelli ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Immune Checkpoint ◽  
Dna Typing ◽  
Metronomic Chemotherapy ◽  
Immune Checkpoint Blockade ◽  
Checkpoint Blockade ◽  
Tumor Type ◽  
Chi Square ◽  
Recommended Treatment ◽  
Chi Square Test

e15094 Background: Tumor infiltrating CTL-rescue by PD-1/PDL1 immune-checkpoint blockade is a recommended treatment for several malignancies including non-small-cell-lung-cancer (NSCLC), malignant melanoma, head and neck, kidney, and urothelial cancer. MAbs to either PD-1 (Nivolumab and Pembrolizumab) or PDL1 (Atezolizumab and Durvalumab) are considered as active drugs in these patients, however, their use may be complicated by unpredictable immune-related adverse events (irAEs) and in less extent by a dreaded interstitial aseptic pneumonitis (IAP). Methods: We carried out a retrospective multi-institutional analysis aimed to investigate possible clinical and biological parameters correlated with the occurrence of IAP in a cohort of 256 cancer patients (188 with mNSCLC and 78 with other malignancies) who received PD-1/PDL-1 blockade since November 2015. Association of IAP with clinical/biological factors was assessed by the chi-square test. Statistics were performed by the SPSS software 23.0. HLA molecular analysis was performed by reverse SSO DNA typing assays on patients’ PBMCs. Results: A centralised radiological review recorded a IAP in 29 patients (11.3%) whose 15 (5.8%) were free of symptoms. There was no correlation of IAP risk with tumor type, specific PD-1 or PDL1 blocking mAb, radiation therapy, inflammatory markers, and other irAEs. IAP was more frequent in males than females [RR = 2.03, (95% CI: 0.63-5.61) p > 0.05] and occurred more often in mNSCLC patients who had received metronomic chemotherapy +/- bevacizumab [RR = 3.05 (95% CI: 1.32-7.06),P = 0.005] or TKI [RR = 1.73 (95% CI: 0.75-4.00),P > 0.05] compared with other treatments prior PD-1/PDL1 blockade. Finally, IAP occurrence was strictly correlated to the expression of HLA-B*35 [RR = 1.73 (95% CI: 0.81-3.71) P < 0.05] and DRB1*11 [RR = 2.34 (95% CI: 1.02-5.39); P = 0.03], two alleles associated to common autoimmune diseases. Conclusions: Taken together, our findings may have relevant implications in predicting the risk of IAP in mNSCLC receiving PD-1/PDL1 blockade and provide the rationale for further immunological and clinical investigations.

scholarly journals Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors

2004 ◽  
Vol 48 (5) ◽  
pp. 647-650 ◽  
Author(s):  
Emilia M. Pinto ◽  
Ana Elisa C. Billerbeck ◽  
Maria Candida B.F. Villares ◽  
Sorahia Domenice ◽  
Berenice B. Mendonça ◽  
...  
Keyword(s):  
High Frequency ◽  
Great Majority ◽  
Polymorphic Markers ◽  
Tumor Suppressor P53 ◽  
Analysis Software ◽  
Chi Square ◽  
Fragment Analysis ◽  
Adrenocortical Tumors ◽  
Normal Individuals ◽  
Chi Square Test

The incidence of adrenocortical tumors in children from the Southern region of Brazil is higher than in other parts of the world. This fact has been related to the identification of an inherited missense mutation of the p53 (R337H) at high frequency (78-97%) in Brazilian children with adrenocortical tumors. Given the high frequency of this germline mutation in the Brazilian population, it is very likely that the R337H mutation has arisen from a common origin. In this study, we analyzed two highly polymorphic intragenic markers (VNTRp53 and p53CA) in 22 patients (16 children and 6 adults) with adrenocortical tumors carrying the germline R337H mutation and 60 normal individuals using GeneScan Fragment Analysis software. We found six and sixteen different alleles for the VNTRp53 and p53CA polymorphic markers, respectively. Two distinct alleles, both with 122 bp, were found in 56.8% (VNTRp53) and 54.5% (p53CA) of the 44 alleles from patients with adrenocortical tumors associated with the R337H mutation. Differently, these same VNTRp53 and p53CA alleles were found in 18.3% and 14.2% of 120 alleles from normal individuals, respectively (p<0.01, Chi-square test). An identical haplotype for p53 locus was also identified in 95% of the apparently unrelated Brazilian patients with adrenocortical tumors carrying the R337H mutation. In conclusion, we demonstrated a strong evidence of co-segregation between two intragenic polymorphic p53 markers and the germline R337H mutation, indicating that this mutation has originated from a single common ancestral in the great majority of the Brazilian patients with adrenocortical tumors.

Myeloproliferative Neoplasms in Danish Twins

2018 ◽  
Vol 139 (3) ◽  
pp. 195-198 ◽  
Author(s):  
Michael Asger  Andersen ◽  
Ole Weis Bjerrum ◽  
Ajenthen Ranjan ◽  
Vibe Skov ◽  
Torben A. Kruse ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Case Reports ◽  
Monozygotic Twin ◽  
Dizygotic Twin ◽  
National Patient Registry ◽  
Twin Registry ◽  
Danish National Patient Registry ◽  
National Patient ◽  
Danish Twin

Objective: Myeloproliferative neoplasms (MPNs) are a heterogeneous group of diseases characterized by clonal hyperproliferation of immature and mature cells of the myeloid lineage. Genetic differences have been proposed to play a role in the development of MPNs. Monozygotic twin pairs with MPNs have been reported in a few case reports, but the MPN concordance pattern in twins remains unknown. Method: All twin pairs born in the period 1900–2010 were identified in the nationwide Danish Twin Registry. Only pairs with both twins alive on January 1, 1977, and those born thereafter were included to allow identification in the Danish National Patient Registry. Results: A total of 158 twin pairs were registered with an MPN diagnosis: 36 monozygotic, 104 dizygotic, and 18 pairs with unknown zygosity. MPNs were diagnosed in both twins in 4 pairs. The probandwise concordance rates for monozygotic twin pairs were higher than for dizygotic twin pairs (15 vs. 0%; p = 0.016). Conclusion: An estimated concordance rate of 15% (95% CI 0.059–0.31) is modest, but given the rarity of MPNs this finding is clinically relevant and provides further support for the role of genetic predisposition in the development of MPNs.

scholarly journals Lifespans of Twins: Does Zygosity Matter?

Genes ◽  
2019 ◽  
Vol 10 (2) ◽  
pp. 166 ◽  
Author(s):  
Jacob Hjelmborg ◽  
Pia Larsen ◽  
Jaakko Kaprio ◽  
Matt McGue ◽  
Thomas Scheike ◽  
...  
Keyword(s):  
Population Based ◽  
Dizygotic Twin ◽  
Vital Status ◽  
Age Cohorts ◽  
Mortality Process ◽  
Dizygotic Twins ◽  
Twin Registry ◽  
The Difference ◽  
Lifespan Distribution ◽  
Danish Twin

Studies with twins provide fundamental insights to lifespans of humans. We aim to clarify if monozygotic and dizygotic twin individuals differ in lifespan, that is, if zygosity matters. We investigate whether a possible difference in mortality after infancy between zygosities is stable in different age cohorts, and whether the difference remains when twins with unknown zygosity are taken into account. Further, we compare the distribution of long-livers, that is, the upper-tail of the lifespan distribution, between monozygotic and same-sex dizygotic twin individuals. The Danish Twin Registry provides a nationwide cohort of 109,303 twins born during 1870 to 1990 with valid vital status. Standard survival analysis is used to compare mortality in monozygotic and dizygotic twin individuals and twin individuals with unknown zygosity. The mortality of monozygotic and dizygotic twin individuals differs slightly after taking into consideration effects of birth- and age-cohorts, gender differences, and that twins are paired. However, no substantial nor systematic differences remain when taking twins with unknown zygosity into account. Further, the distribution of long-livers is very similar by zygosity, suggesting the same mortality process. The population-based and oldest twin cohort ever studied suggests that monozygotic and dizygotic twins have similar lifespans.

Hubungan Antara Menyusui Dengan Involusi Uterus Pada Ibu Nifas Fisiologis Di RSIA Aura Syifa Kabupaten Kediri

1970 ◽  
Vol 5 (2) ◽  
pp. 64
Author(s):  
Eny Sendra ◽  
Dewi Indriani
Keyword(s):  
Breast Feeding ◽  
Sampling Technique ◽  
Chi Square ◽  
Cross Sectional ◽  
Fisher Test ◽  
Key Word ◽  
Chi Square Test ◽  
The Moment

Breast feeding is giving milk to be drunk to the baby from the breast. Uterus involution is a process how the uterus return to the condition back, before pregnanting after bearing. At the moment of suckling, happens a stimulus and brings the hormones out, such as oksitosin uses not only to stimulate some muscles constraction but also to stimulate the uterus, so that the process of uterus involution happens foster. According to the explanations above, the research aimed to know about the correlation between breast feeding and uterus involution. This research’s design was, cross sectional by the population of all childbirth mothers approximately 50 persons / month. By using accidental sampling technique we got 21 sample respondents. The place of research in RSIA Aura Syifa in Kediri Regency on 16th until 22nd of June 2009. From this research’s result, we got 14 persons (66,67%) with normal uterus involution, suckled in a good way, one person (4,67%) with normal uterus involution, suckled in a wrong way, 2 persons (9,52%) with abnormal uterus involution, suckled in a good way and 4 persons (19,05%) with abnormal uterus involution, suckled in a wrong way. Statistic test which used chi-square test, counted the probability frequency in advance, from that we got 3 columns with the score, less than 5, so that chi-square can not be continued and by doing exact fisher test, the score was 0,001. Because P with the grade mistake 0,05 smaller, so the conclusion was “Ho” is rejected, it meant “there was correlation between suckling and uterus involution”. Key Word : Breast feeding, uterus involution

FAKTOR PERSONAL YANG BERHUBUNGAN DENGAN KOMITMEN ORGANISASI PERAWAT RSUD EMBUNG FATIMAH BATAM

2020 ◽  
Vol 5 (3) ◽  
pp. 875
Author(s):  
Asfri Sri Rahmadeni
Keyword(s):  
Organizational Commitment ◽  
Turnover Rate ◽  
Sampling Technique ◽  
Hospital Nurses ◽  
Test Results ◽  
Personal Factors ◽  
High Turnover ◽  
Chi Square ◽  
Cross Sectional ◽  
Chi Square Test

<p class="Normal1"><em>Commitment is the attitude or behavior of likes or dislikes shown by someone against the organization at work. Indonesia is recorded as a nurse who has a low organizational commitment (76%) so it harms services. This phenomenon in the hospital can be seen from the indicator of the high turnover rate of nurses which reaches 30.9% which exceeds the standard &lt;5%. Many factors affect organizational commitment. The purpose of this study was to analyze the Personal Factors Associated with Organizational Commitment of Hospital Nurses. This study is a cross-sectional analytic study and purposive sampling technique with a sample of 59 nurses. Chi-Square test results obtained personal factors that have a relationship with organizational commitment Nurse Hospital is age with p = 0,000 and education with p = 0,000, personal factors not related to organizational commitment are gender p = 1,053 and years of service with p = 1,147. Hospitals should conduct research/surveys on Organizational Commitment periodically as an evaluation material in the context of the organization's development and development in the future</em>.</p>

GAMBARAN INDEKS LARVA AEDES AEGYPTI DI BUFFER WILAYAH KERJA BANDARA SEPINGGAN BALIKPAPAN

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Abdurrakhman abdurrakhman Abdurrakhman
Keyword(s):  
Aedes Aegypti ◽  
Buffer Zone ◽  
Chi Square ◽  
Cross Sectional ◽  
Breeding Sites ◽  
Dengue Disease ◽  
Vector Borne Diseases ◽  
Transportation Equipment ◽  
Chi Square Test ◽  
Larvae Density

ABSTRACT : The House index and Container Index in the buffer area of ​​the working area of ​​Balikpapan Sepinggan Airport is still above 1%, so the potential for the spread of dengue disease. Mobilization of people, goods and transportation equipment will increasingly affect the transmission of disease in ports and airports, especially for vector-borne diseases. This study aims to analyze the risk factors associated with larvae density of Aedes aegypti and describe the larvae index in the buffer zone of the Sepinggan Balikpapan Airport This study was a descriptive study with a cross sectional design. The sample in this study was 121 houses with a proportionate stratified random sampling, the research location was in the buffer zone of Sepinggan Balikpapan Airport in November 2018. The variables studied were houses with positive larvae containers, breeding sites and PSN behavior and larvasidation. The data was analyzed using the chi square test. There was a relationship between houses with larvae positive Aedes aegypti, behavior of Mosquito Nest Eradication (PSN) and larvasidation with larvae density of Aedes aegypti but not for breeding sites (p = 0.00 and 95% CI = 0.64), and   (p = 0.00 and 95% CI = 0.34). The description of several Aedes aegypti larvae index, namely House Index (HI) = 57.02%, Container Index (CI) = 24.36%, Bruteau Index (BI) = 148.76, and Flick Free Numbers (ABJ) = 42.98 %. Houses with larvae of Aedes aegypti larvae and PSN and larvasidation behavior were associated with larvae density of Aedes aegypti. The index of HI, CI and BI larvae is of high value so there is a risk of DBD transmission

The Influence of Age and Gender on Mandibular Indices among the Libyan Population

2019 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Negative Correlation ◽  
Bone Mineralization ◽  
Age Groups ◽  
T Test ◽  
Chi Square ◽  
Age And Gender ◽  
Significant Difference ◽  
Chi Square Test ◽  
And Gender ◽  
Libyan Population

Radiographic Mandibular Indices serve as easy and relatively cheap tools for evaluating bone mineralization. Objectives: To examine the effect of age and gender on three mandibular indices: the panoramic mandibular index (PMI), the mandibular ratio (MR) and the mandibular cortical index (MCI), among Libyan population. Methods: The three indices were measured on 317 digital (OPGs) of adult humans (155 males, 162 females). The sample was divided into six age groups (from 18-25 years through 56-65 years). The measurements were analyzed for interactions with age and sex, using SPSS (Statistical Package for Social Studies) software version no. 22. The tests employed were two way ANOVA, the unpaired T-test and chi-square test. Results: The mean PMI fluctuated between 0.37 s.d. 0.012 and 0.38 s.d. 0.012. among the sixth age groups. One-way ANOVA statistical test revealed no significant of age on PMI. On the other hand gender variation has effect on PMI, since independent sample t-test disclosed that the difference between the male and female PMI means statistically significant. ANOVA test showed that the means of MR among age groups showed a negative correlation i.e. MR mean declined from 3.01 in 18-25 age groups to 2.7 in 55-65 age groups. In contrary, the gender showed no effect on MR according two sample t-test at p> 0.05. In regards with MCI, statistical analysis showed that it affected by age that is C1 was decreasing by age while C2 and C3 were increased by age. Using chi square test the result indicated that there is a significant difference among the different age group and the two genders in MCI readings. Conclusion: PMI was influenced significantly by age but minimally by the gender. MR is not affected by gender but has a negative correlation with age. MCI is affected by both age and gender

IDENTIFIKASI SERTA HUBUNGAN KONSTRUKSI SUMUR GALI TERHADAP KANDUNGAN COLIFORM PADA AIR SUMUR GALI DI DUSUN JIKEN KABUPATEN LOMBOK TIMUR

2019 ◽  
Vol 7 (2) ◽  
pp. 115
Author(s):  
Dini Yuliansari
Keyword(s):  
Cross Sectional Study ◽  
Coliform Bacteria ◽  
Well Water ◽  
Chi Square ◽  
Cross Sectional ◽  
Content Variable ◽  
Chi Square Test ◽  
Dug Wells ◽  
Dug Well ◽  
The Relationship

The well is one of the source water used for bathing, washing, and drinking by the citizens in Jiken Hamlet, Rarang Village, Terara Sub-District. Poor dug well construction conditions can affect the amount of coliform bacteria contained in the dug well water. The purpose of this study is to identify the construction of dug wells and the content of coliform bacteria in dug well water and determine the relationship between dug well construction and the content of coliform bacteria. This research is analytic with a cross sectional study design. The results were obtained from 11 samples of dug wells which were observed in construction and the coliform content was known that all samples did not requirements as good dug well construction. Coliform content test results showed that as many as 5 dug well water samples did not pass the clean water quality standards. The results of data analysis with the chi-square test variable construction of dug wells with coliform content variable  showed 0,172 > 0,05, then the concluded is the dug well not suitable to use by people in that area as a source of water for daily needs.

Hubungan antara Luas Lesi pada Foto Toraks Penderita TB Paru Dewasa yang Memiliki Riwayat Diabetes Melitus dengan Indeks Massa Tubuh di Rumah Sakit Hasan Sadikin Bandung

2016 ◽  
Vol 1 (3) ◽  
pp. 138-144
Author(s):  
Ina Edwina ◽  
Rista D Soetikno ◽  
Irma H Hikmat
Keyword(s):  
Chest Radiograph ◽  
Chi Square ◽  
Pulmonary Tb ◽  
X Ray ◽  
Consecutive Sampling ◽  
Close Relationship ◽  
Chi Square Test ◽  
Chest X Ray ◽  
The Relationship ◽  
Diabetes Melitus

Background: Tuberculosis (TB) and diabetes mellitus (DM) prevalence rates are increasing rapidly, especially in developing countries like Indonesia. There is a relationship between TB and DM that are very prominent, which is the prevalence of pulmonary TB with DM increased by 20 times compared with pulmonary TB without diabetes. Chest X-ray picture of TB patients with DM is atypical lesion. However, there are contradictories of pulmonary TB lesion on chest radiograph of DM patients. Nutritional status has a close relationship with the morbidity of DM, as well as TB.Objectives: The purpose of this study was to determine the relationship between the lesions of TB on the chest radiograph of patients who su?er from DM with their Body Mass Index (BMI) in Hasan Sadikin Hospital Bandung.Material and Methods: The study was conducted in Department of Radiology RSHS Bandung between October 2014 - February 2015. We did a consecutive sampling of chest radiograph and IMT of DM patients with clinical diagnosis of TB, then the data was analysed by Chi Square test to determine the relationship between degree of lesions on chest radiograph of pulmonary TB on patients who have DM with their BMI.Results: The results showed that adult patients with active pulmonary TB with DM mostly in the range of age 51-70 years old, equal to 62.22%, with the highest gender in men, equal to 60%. Chest radiograph of TB in patients with DM are mostly seen in people who are obese, which is 40% and the vast majority of lesions are minimal lesions that is equal to 40%.Conclusions: There is a signifcant association between pulmonary TB lesion degree with BMI, with p = 0.03

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