Distribution of UGT1A1 (TA) polymorphisms in Caucasian and Asian subjects

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 2063-2063
Author(s):  
J. Liu ◽  
K. Qu ◽  
Y. Ren ◽  
A. Sferruzza ◽  
R. A. Bender
Keyword(s):  
Severe Neutropenia ◽  
Group Differences ◽  
Genotype Distribution ◽  
Uridine Diphosphate ◽  
Chi Square ◽  
Men And Women ◽  
Genotype Frequencies ◽  
Fluorescent Pcr ◽  
Chi Square Test ◽  
Tata Sequence

2063 Background: The hepatic isoform 1A1 of uridine diphosphate glucuronosyltransferase (UGT) is responsible for glucuronidation and detoxification of SN-38, the active metabolite of irinotecan. The presence of an additional TA repeat in the TATA sequence of the UGT1A1 gene is a common polymorphism, leading to a significant decrease in SN-38 glucuronidation. Patients with the UGT1A1 (TA)7 allele (either [TA]6/7 or [TA]7/7 ) are more likely to experience severe neutropenia and diarrhea following irinotecan chemotherapy. We assessed the distribution of the UGT1A1 (TA) polymorphism in Caucasian and Asian subjects. Methods: We used a fluorescent PCR-based assay to detect UGT1A1 (TA) polymorphisms in 129 healthy subjects (52 Caucasian, 34 Chinese, 36 Filipino, and 7 Japanese). The chi-square test was used to assess between-group differences in the distribution of UGT1A1 (TA) genotypes. Results: UGT1A1 (TA) genotype distribution differed significantly between Caucasian and Asian subjects (P = 0.003). The UGT1A1 (TA)6/7 and (TA)7/7 genotypes were more common in Caucasians than Asians. Genotype distributions did not differ significantly between men and women in either group ( Table ). Conclusions: The frequency of the deleterious UGT1A1 (TA)7 polymorphism was greater in Caucasians than in Asians; genotype frequencies were consistent with previous reports. In both groups, UGT1A1 (TA) genotype distributions were similar in men and women. [Table: see text] No significant financial relationships to disclose.

scholarly journals Genetic polymorphisms of fecundity genes in Watish Sudanese desert sheep

2020 ◽  
Vol 13 (4) ◽  
pp. 614-621
Author(s):  
Sara E. Ibrahim Mohamed ◽  
Romaz M. Ahmed ◽  
Khaleel I. Z. Jawasreh ◽  
M. A. M. Salih ◽  
Dalia Mursi Abdelhalim ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Litter Size ◽  
Goodness Of Fit ◽  
Chi Square ◽  
Association Testing ◽  
Genotype Frequencies ◽  
Protein Receptor ◽  
Morphogenetic Protein ◽  
Growth Differentiation Factor 9 ◽  
Chi Square Test

Background and Aim: The Watish sheep is a strain of desert sheep of smaller size compared to other desert sheep ecotypes, and there is anecdotal evidence that it is endowed with high litter size. The present study was designed for screening for polymorphisms in the known fecundity genes (bone morphogenetic protein receptor type 1B A<G in exon 6, bone morphogenetic protein 15 (BMP15) (FecXB, FecXG, FecXH, and FecXI) in exon2, growth differentiation factor 9 (GDF9) – G1 in exon1 and G8 in exon2 and PRLG<A in intron2) and their association with litter size in Watish. Materials and Methods: The study involved 156 Watish ewes of 2-6 years of age, along with data on litter size in the first, second, and third parity from Sinnar state and contiguous Blue Nile State. Genomic DNA was isolated and genotyped using polymerase chain reaction-restriction fragment length polymorphism. Allele and genotype frequencies were calculated by direct counting. Chi-square test for goodness of fit was performed for agreement with Hardy-Weinberg expectations and association testing. Results: The results demonstrated that all individuals were non-carriers for the target mutations of FecB, BMP15 (FecXB, FecXH, and FecXI), and GDF9-G8. With regard to the GDF9-G1 gene, the genotypic frequencies were 0.07% (G+) and 0.93% (++), in FecXG gene they were 0.993% (++) and 0.006% (B+), in PRL gene 0.516(++), 0.347(B+), and 0.137(BB). The Chi-square test showed a non-significant association between ewe's type of birth and the detected mutations genotypes. Conclusion: These results preliminarily indicated that GDF9-G1, BMP15 (FecXG), and PRL genes might have had some contribution for improving litter size in Watish Sudanese sheep. However, further studies using larger samples are needed to detect the effects of those mutations on Watish sheep litter size.

scholarly journals VARIASI POLA SIDIK JARI SOROH BRAHMANA SIWA DI BALI

2017 ◽  
Vol 5 (2) ◽  
pp. 38
Author(s):  
Ida Bagus Bajing Agastya ◽  
I Ketut Junitha ◽  
Ni Nyoman Wirasiti
Keyword(s):  
T Test ◽  
Ridge Count ◽  
Chi Square ◽  
Men And Women ◽  
Significant Difference ◽  
Result Show ◽  
Chi Square Test

ABSTACTResearch was conducted to determine the patterns of Brahmana Shiva fingerprint in Bali. The fingerprint samplesas many as 240 people, which consist of 120 men and 120 women from four generation of Brahmana Shiva in Bali. Thefingerprints were collected using a fingerprint pad then the data were analyzed using Chi–Square test, Student-t test,Dankmerijer index and Furuhata index. The result of fingerprints examination shown that there were four fingerprintspattern i.e. arch (A), loop ulnar (LU), loop radial (LR), and whorl (W) from four sub clan (Brahmana Manuaba, Kemenuh,Keniten, Mas), with different frequencies and anequal distribution from each fingers and both hands. The arch (A) patternin clan Brahmana Manuaba and Kemenuh have the same 0.83 % frequencies, while the frequencies of Keniten 1.17 % andMas 1.67 %. The frequencies of Loop ulnar (LU) pattern from clan Brahmana Mas were 42.66 %, Manuaba 36 %, Keniten39 %, and Kemenuh 34.33 %. The frequency of loop radial (LR) pattern from clan Brahmana Manuaba were 42.17 %,Keniten 41.83 %, Mas 37.83 %, and Kemenuh 29.51 %. The frequencies of whorl (W) pattern from sub clan BrahmanaKemenuh, Manuaba, Keniten, and Mas were 35.33 %, 22 %, 18 %, and 17.83 %, respectively. The result show asignificant differences between sub clan Mas and Kemenuh using Dankmerijer Index (DI). The result show a significantdifferences between sub clan Kemenuh with Mas, Keniten and Manuaba using Furuhata Index (FI). Total Ridge Countbetween men and women of Brahmana Shiva offspring showed unsignificantly diferences at level 5%. However, there wasa significant difference of Total Ridge Count from sub clan Manuaba with Mas, Kemenuh, and Keniten.Keywords : fingerprints, arch, loop, whorl, clan brahmana shiva.

scholarly journals Interleukin-18 Polymorphisms Impose Considerable Impacts on Ankylosing Spondylitis Occurrence

2020 ◽  
Author(s):  
Wenlong Gou ◽  
Hai Wang ◽  
Yu Wang ◽  
Quanyin Du ◽  
Ziming Wang
Keyword(s):  
Linkage Disequilibrium ◽  
Ankylosing Spondylitis ◽  
Chinese Population ◽  
Strong Linkage Disequilibrium ◽  
Genotype Distribution ◽  
Interleukin 18 ◽  
Chi Square ◽  
The Status ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium

Abstract Background: This research was conducted to explore the genetic association of interleukin-18 (IL-18) polymorphisms in promoter with ankylosing spondylitis (AS) in Chinese population using a case-control design.Methods: Polymerase chain reaction (PCR) and sequencing were used to complete the genotyping of IL-18 polymorphisms in 146 AS patients and 134 healthy controls. The genotype distribution of polymorphism was detected the status of Hardy-Weinberg equilibrium (HWE). The genotype and allele frequencies difference between the two groups was compared by chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the association strength of AS. The linkage disequilibrium of IL-18 polymorphisms was investigated in AS occurrence by Haploview.Results: TT genotype and T allele of rs1946518 showed the significantly higher frequencies in AS patients than that of the controls (P=0.042, 0.026), which indicated that rs1946518 was obviously associated with AS risk (TT vs. GG: OR=1.993, 95%CI=1.021-3.891; T vs.G: OR=1.460, 95%CI=1.046-2.038). However, no significant association was found between rs187238 and AS. Moreover, the strong linkage disequilibrium was found and haplotype rs1946518T-rs187238C was a susceptible factor of AS (OR=1.638, 95%CI=1.017-2.639).Conclusion: IL-18 rs1946518 polymorphism may contribute to the susceptibility of individuals to AS in Chinese population, but not another polymorphism rs187238. The interaction of the two polymorphisms should be considered in AS etiology.

scholarly journals PRLR-AluI Gene Polymorphism And Litter Size Traits In Highly Prolific Line Of Topigs 20 Sows

2015 ◽  
Vol 65 (4) ◽  
pp. 463-476 ◽  
Author(s):  
Sven Menčik ◽  
Vlado Vuković ◽  
Mario Modrić ◽  
Marija Špehar ◽  
Mario Ostović ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Litter Size ◽  
Prolactin Receptor ◽  
Calculation Model ◽  
Chi Square ◽  
Test Analysis ◽  
Genotype Frequencies ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
The Difference

AbstractThe objective of the present study was to identify the Prolactin Receptor (PRLR) gene polymorphism related to litter size traits. The study included 101 Topigs 20 line of sows with 426 litters. The traits studied were: Total Number of Born (TNB), Number of Born Alive (NBA), Number of Still Born (NSB), and Number of MUMmified (NMUM) piglets. Polymorphism was identified with the polymerase chain reaction-restriction fragment length polymorphism method. Allelic and genotype frequencies and deviation from Hardy-Weinberg equilibrium were verified with the chi-square test. Analysis of litter size traits was performed using the General Linear Model, which included the potential environmental effects. Additive and dominant allele variances were observed by the regression procedure. In the studied population of sows, the frequency of heterozygotes (0.5149) for PRLR gene exceeded the total number of AA (0.0198) and BB (0.4653) homozygotes, which resulted in a high proportion of B allele (0.7228). The results for PRLR showed statistically significant (P<0.05) differences in first parity sows between BB and AB genotypes for TNB and NBA. Significant differences(P<0.05) were recorded in third parity sows between BB and AB genotypes for NBA, and in AA genotypeversusAB and BB genotypes for NMUM. The fourth and subsequent parity sows of AA genotype had a significantly higher (P<0.05) rate of NBA as compared with those of AB and BB genotypes. In all parities analysed, the difference between the BB and AB genotypes for NBA was statistically significant (P<0.05). Interpretation of the results at the levels of phenotypes and either additive or dominant variance was quite difficult due to the small number of AA homozygous sows. The calculation model yielded a significant effect (P<0.05) as well as tendency (P<0.1) for the mentioned effects except for age at first farrowing.

scholarly journals Analysis of Prolactin and Kappa-Casein Genes Polymorphism in Four Cattle Breeds in Turkey

2014 ◽  
Vol 14 (4) ◽  
pp. 799-806
Author(s):  
Bilal Akyüz ◽  
Mehmet Ulaş Çınar
Keyword(s):  
Restriction Enzymes ◽  
Chi Square ◽  
Brown Swiss ◽  
Weinberg Equilibrium ◽  
Cattle Breeds ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Chi Square Test ◽  
Hardy Weinberg Equilibrium ◽  
Casein Genes

Abstract The objective of this study was to identify allele and genotype frequencies of CSN3 and PRL genes in four cattle breeds in Turkey. For this purpose, a total of 390 cattle of East Anatolian Red (EAR), Zavot, Brown Swiss (BS) and Simmental (SIM) breeds were genotyped by PCR-RFLP method. A 443 bp fragment of CSN3 and a 156 bp fragment of PRL were amplified and digested with HindIII and RsaI restriction enzymes, respectively. For CSN3 and PRL genes, two types of alleles (A and B) and three types of genotypes (AA, BB, and AB) were observed. The highest frequencies for CSN3-A and CSN3-B alleles were estimated for the EAR breed (0.743) and for the BS breed (0.556), respectively. The highest frequency for PRL-A and PRL-B alleles was estimated for the SIM breed (0.801) and for the BS breed (0.315), respectively. The Chi-square test among the investigated cattle breeds showed that only the Zavot breed was in Hardy-Weinberg equilibrium (HWE) for both loci.

scholarly journals Comparative Evaluation of Adiposity Indices as Predictors of Hypertension among Brazilian Adults

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Maurílio T. Dutra ◽  
Diego B. V. Reis ◽  
Karla G. Martins ◽  
André B. Gadelha
Keyword(s):  
Roc Curves ◽  
Cross Sectional Study ◽  
Chi Square ◽  
Anthropometric Measures ◽  
Cross Sectional ◽  
Men And Women ◽  
Significance Level ◽  
Adiposity Index ◽  
Adiposity Indices ◽  
Chi Square Test

Purpose. To compare several anthropometric indices in the prediction of hypertension among adults. Methods. This is a cross-sectional study. Five hundred and eighteen adult men and women (40.9 ± 10.5 years; 1.62 ± .09 m; 72.3 ± 15.6 kg) volunteered to participate and underwent blood pressure and anthropometric measures. Anthropometric assessments were used to calculate body mass index (BMI), waist circumference (WC), waist-to-hip ratio (WHR), waist-to-stature ratio (WSR), body adiposity index (BAI), and conicity index (C). Comparisons between men and women were carried out by independent t-test and chi-square test. Cut-off points for each adiposity index to predict hypertension were obtained using Receiver Operating Characteristic (ROC) curve analyses. The significance level was set at P ≤ .05. Results. All adiposity indices regarding both genders showed significant odds ratios, except BAI (odds ratio: 1.534; CI: 0.916–2.571) for women. In men, WHR and WSR were considered as more balanced indices regarding their sensitivity (AUC: 73.8 and 71.4, respectively) and specificity (AUC: 77.6 and 73.1, respectively). In women, WHR and WSR presented areas under the ROC curves higher than C index (P = .007) and BAI (P = .03), respectively. Conclusion. Indices that consider abdominal adiposity such as WC, WHR, and WSR have a stronger relationship with hypertension compared to others.

scholarly journals Genetic Polymorphism in MMP9 May Be Associated With Anterior Open Bite in Children

2017 ◽  
Vol 28 (3) ◽  
pp. 277-280 ◽  
Author(s):  
Erika Calvano Küchler ◽  
Driely Barreiros ◽  
Raphaela Oliveira da Silva ◽  
Júlia Guimarães Barcellos de Abreu ◽  
Ellen Cardoso Teixeira ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Logistic Regression Analysis ◽  
Protective Factor ◽  
Recessive Model ◽  
Open Bite ◽  
Anterior Open Bite ◽  
Chi Square ◽  
Genotype Frequencies ◽  
Chi Square Test

Abstract Anterior open bite (AOB) has a multifactorial etiology caused by the interaction of sucking habits and genetic factors. The aim of this study was to evaluate the association between AOB and polymorphisms in genes that encode Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs). Four hundred and seventy-two children that presented at least one sucking habit were evaluated. Children were examined clinically for the presence of AOB. Genomic DNA was extracted from saliva. Genotyping of the selected polymorphisms in MMP2, MMP3, MMP9, TIMP1 and TIMP2 was carried out by real-time PCR using the TaqMan method. Allele and genotype frequencies were compared between the groups with and without AOB using the PLINK® software in a free and in a recessive model using a chi-square test. Logistic regression analysis was implemented (p≤0.05). Two hundred nineteen children had AOB while 253 did not. The polymorphism rs17576 in MMP9 was significantly associated with AOB (p=0.009). In a recessive model GG genotype was a protective factor for AOB (p=0.014; OR 4.6, 95%CI 1.3-16.2). In the logistic regression analysis, none of the genes was associated with AOB. In conclusion, the polymorphism rs17576 (glutamine for arginine substitution) in MMP9 was a protective factor for AOB.

scholarly journals Association between the HLA-B*1502 gene and mild maculopapular exanthema induced by antiepileptic drugs in Northwest China

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilupaer Shafeng ◽  
Deng-feng Han ◽  
Yun-fang Ma ◽  
Rena Abudusalamu ◽  
Binuer Ayitimuhan
Keyword(s):  
Antiepileptic Drugs ◽  
Binary Logistic Regression ◽  
Northwest China ◽  
Stevens Johnson Syndrome ◽  
Gene Frequencies ◽  
Chi Square ◽  
Genotype Frequencies ◽  
Johnson Syndrome ◽  
Chi Square Test ◽  
Maculopapular Exanthema

Abstract Background The relationship between the HLA-B*1502 gene and maculopapular exanthema (MPE) induced by antiepileptic drugs (AEDs) has not yet been elucidated. In this study, we investigated the association between AED-induced MPE (AED-MPE) and the HLA-B*1502 gene in patients in Northwest China. Methods We enrolled 165 subjects including nine patients with AED-MPE and 156 AED-tolerant patients as controls. HLA-B*1502 gene polymorphism was detected using digital fluorescence molecular hybridization (DFMH). The results of HLA genotyping were expressed as positive or negative for the HLA-B*1502 allele. An analysis of AED-MPE risk factors was performed using binary logistic regression, and differences in genotype frequencies between groups were assessed with the continuity correction chi-square test. Results We found that the HLA-B*1502 gene was a risk factor for AED-MPE (P = 0.028). The incidence of MPE induced by the two types of AEDs was different, and the incidence of aromatic AEDs use was higher that of non-aromatic AEDs use (P = 0.025). The comparison of the gene frequencies of the HLA-B*1502 allele between the two groups taking aromatic AEDs was also statistically significant (P = 0.045). However, there were no significant differences in terms of age, gender, ethnicity, or region in patients with MPE induced by AEDs. In addition, no association between the HLA-B1502 allele and CBZ- or OXC-induced MPE was found. Conclusions In northwestern China, the HLA-B*1502 allele was associated with aromatic AED-MPE. Since MPE can develop into Stevens–Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN), the HLA-B*1502 gene should be evaluated before administering AEDs.

scholarly journals Sex Difference in Access to Sports: A 1-Year Retrospective Study

2020 ◽  
Vol 15 (1) ◽  
pp. 108-112
Author(s):  
Milena Nasi ◽  
Roberta D’alisera ◽  
Andrea Cossarizza ◽  
Emanuele Guerra ◽  
Gustavo Savino ◽  
...  
Keyword(s):  
Healthy Lifestyle ◽  
Age Groups ◽  
Team Sports ◽  
Well Being ◽  
Cardiovascular Risks ◽  
Chi Square ◽  
Medical Certificate ◽  
Men And Women ◽  
Chi Square Test ◽  
The Difference

Purpose. Regular physical activity is a cornerstone in the prevention and treatment of cardiovascular disease thanks to its anti-inflammatory effects. Thus, favoring the access to sports is of importance for promoting well-being. The aim of the present study was to investigate how the practice of different sports is distributed among different age groups and between men and women, by taking a picture of the medical certificate request in 2017 for sports in the population of the province of Modena, Italy. Methods. We analyzed the difference in distribution of requested medical certificate from 18 874 males and 7625 females stratified for age (<18 years, 18-40 years, and >40 years) and for different sporting disciplines (athletics, football, bike, swimming, basketball, volleyball, tennis, other team sports, other individual sports, and disabled sports). Results. Men requested medical certificates more than women (more than 2.5 times). The distribution of requested certificates differs significantly (chi-square test P < .0001) at different ages and between males and females of same age. Certificate for men aged less than 18 years were 7550 and for women were 4131 and the difference increase with age. Conclusions. In order to decrease the imbalance between men and women access to sports, it is mandatory to promote a healthy lifestyle and reduce, as consequence, cardiovascular risks, mostly in women after 40 years.

scholarly journals Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alice Corrêa Silva-Sousa ◽  
Guido Artemio Marañón-Vásquez ◽  
Maria Bernadete Sasso Stuani ◽  
Peter Proff ◽  
Kesly Mary Ribeiro Andrades ◽  
...  
Keyword(s):  
Bone Morphogenetic Proteins ◽  
Genetic Variants ◽  
Additive Model ◽  
Bilateral Symmetry ◽  
Recessive Model ◽  
Genotype Distribution ◽  
Chi Square ◽  
Palatal Rugae ◽  
Chi Square Test ◽  
Bmp Pathway

AbstractThis study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variations in the palatal rugae pattern in humans. Dental casts and genomic DNA from 75 patients were evaluated. Each patient was classified as follows: total amount of rugae; bilateral symmetry in the amount, length and shape of the palatal rugae; presence of secondary or fragmentary palatal rugae; presence of unifications; predominant shape; and predominant direction of the palatal rugae. The genetic variants in BMP2 (rs1005464 and rs235768), BMP4 (rs17563) and SMAD6 (rs2119261 and rs3934908) were genotyped. Genotype distribution was compared between palatal rugae patterns using the chi-square test (alpha = 0.05). The allele A was associated with the presence of secondary or fragmentary rugae for rs1005464 (OR = 2.5, 95%CI 1.1–6.3; p = 0.014). Secondary or fragmentary rugae were associated with the G allele in rs17563 (OR = 2.1, 95%CI 1.1–3.9; p = 0.017). rs17563 was also associated with rugae unification (p = 0.017 in the additive model). The predominant shape (wavy) was associated with rs2119261 (p = 0.023 in the additive model). The left–right symmetry of the length of primary rugae was associated with rs3934908 in the recessive model (OR = 3.6, 95%CI 1.2–11.7; p = 0.025). In conclusion, genetic variants in the BMP pathway impacted on palatal rugae pattern.

Sign in / Sign up

Export Citation Format

Share Document