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PubMed2004

Apolipoprotein C-III SstI genotypes modulate exercise-induced hypotriglyceridemia.

PURPOSE: To investigate whether the efficacy of exercise as an antitriglyceridemic treatment was dependent on the apolipoprotein (apo) C-III SstI gene polymorphism. METHODS: A subgroup of 100 Korean men, who were prescreened by genotypes (S1S1 = 40, S1S2 = 40, S2S2 = 20), participated in a 6-d moderate-exercise intervention using either a motor-driven treadmill or a cycle ergometer. Height and weight for body mass index and waist circumference were measured. Fasting total cholesterol, triglycerides (TG), high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, glucose, and insulin were measured. Univariate analysis of variance and ANCOVA followed by Bonferroni post hoc tests were used to compare the preintervention values and the pre- to postexercise change (delta) scores in the measured variables across the genotypes, respectively. Multivariate linear regressions were carried out with age, smoking, waist circumference, body mass index, and genotype as independent variables and lipids, glucose, and insulin as dependent variables. RESULTS: Subjects with the S2S2 genotype had a significantly higher preintervention TG concentration than subjects with the S1S1 genotype (P = 0.022). Waist circumference and genotype were the only significant predictors for the preintervention TG (P < 0.001). With respect to the delta scores, the subjects with the S2S2 genotype had a greater reduction in TG than the subjects with the S1S1 genotype, adjusted for the preintervention difference (P = 0.047). CONCLUSION: This study suggests that the apo C-III SstI gene polymorphism might be useful for determining who is most susceptible to intervention by exercise in lowering fasting TG concentration.

Adult↗
PubMed2006

Influence of the dominant white/KIT genotypes on the reproductive organs of pigs.

Based on earlier studies with mice and pigs, the possible pleiotropic effects of the individual porcine Dominant White/KIT genotypes on the size, histological parameters, and surface features of the ovaries; on the size, histological characteristics, and volume of the testes; and on the occurrence of abnormal epididymal sperm cells were studied in two F2 generations of an intercross between Hampshire boars and Hungarian Large White sows. The KIT genotypes were determined by a PCR-RFLP method. The ovarian diameters of gilts of various KIT genotypes did not differ significantly (P=0.292), and the II pigs had the smallest diameters. The proportion of the investigated follicular types among the different KIT genotypes did not differ significantly (P=0.329-0.919), and the highest numbers of degenerated and atretic follicles were found in the ovaries of II genotype pigs, which also exhibited the highest proportion of primary follicles. The testis volume in the II homozygote white genotype boars (249.5 cm(3)) was significantly (P<0.01) larger than in the Ii (205.4 cm(3)) and ii (197.5 cm(3)) boars. Bodyweight and age significantly (P<0.01) affected testicular volume. KIT genotypes had no profound effect on the proportion of the various epididymal sperm abnormalities, and ii type boars showed the highest (nonsignificant) numbers of primary abnormalities. The changes in abnormal sperm cell frequency were linear to the changes in bodyweight and testis volume. We were unable to demonstrate disadvantageous effects of the KIT genotypes on the investigated ovarian, testicular, and epididymal sperm characteristics. Therefore the reproductive traits of white colored pigs examined in this study are no worse than those of pigmented breeds.

Alleles↗
PubMed2003

An alternative fast and convenient genotyping method for the screening of angiotensin converting enzyme gene polymorphisms.

Insertion/deletion (I/D) polymorphisms in intron 16 of the angiotensin converting enzyme gene (ACE) are associated with the plasma angiotensin converting enzyme (ACE) levels, and individuals with the DD allele have been reported to be more susceptible to cardiovascular disease than those without. The conventional genotyping method for the screening of I/D polymorphisms, which involves polymerase chain reaction (PCR)-gel electrophoresis, is laborious and time-consuming. In this study, we assessed the use of TaqMan-PCR genotyping for the screening of I/D polymorphisms as a replacement for the conventional method. We genotyped seven single nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with the I/D polymorphisms, and calculated the LD coefficients of the I/D polymorphisms. We found that three polymorphisms, rs4331, rs4334 and rs4341, exhibited the highest LD coefficients (D' = 1.000; r2 = 0.967) and that the genotyping of rs4341 by the TaqMan-PCR method yielded the best discrimination among the different genotypes. Genotyping of 511 samples took only 2 h and the amount of DNA required for each test was only 6 ng by the TaqMan-PCR method using rs4341. In the course of this study, we identified a novel additional polymorphism (a deletion of six amino acids) in exon 13, near rs4316. The deletion allele encoded the testicular ACE, but not the plasma ACE. We concluded that genotyping of the rs4341 ACE polymorphism by the TaqMan-PCR method is a fast and convenient alternative method for direct I/D genotyping. We also concluded that testicular ACE may manifest a deletion of six amino acids that may result in deleterious function of this enzyme.

Adult↗
PubMed2000

Association of the vitamin D receptor genotype BB with low bone density in hyperthyroidism.

Bone mineral density (BMD) is modulated by genetic and environmental factors or certain diseases. In several conditions such as low calcium intake, an influence of vitamin D receptor (VDR) polymorphisms on BMD has been suggested. In the present study, we investigated the relationship of Bsm I and Fok I polymorphisms of the VDR gene and BMD in patients with hyperthyroidism, a disease that often results in low BMD. Bsm I and Fok I genotypes were determined in 76 postmenopausal hyperthyroid patients and 62 healthy postmenopausal women as controls. Patients and controls were matched for age, time since menopause, and lifestyle factors and were free of estrogen medication. BMD evaluation included axial dual X-ray absorptiometry (DXA) and peripheral quantitative computed tomography (PQCT). Low BMD was defined as -2.5 STD below the young adult mean value. Biochemical parameters investigated were thyroid hormones, osteocalcin, and 25-(OH)-vitamin D3 as well as routine laboratory data. Low BMD was found in 61% of hyperthyroid patients and in only 23% of euthyroid controls. In the group of hyperthyroid patients with low bone density, the BB genotype (VDR Bsm I polymorphisms) was significantly more frequent (39%) than in controls (13%; p = 0.003) and hyperthyroid patients with normal BMD (6%; p = 0.013). The odds ratio (OR) for low BMD in patients with BB genotype was 5.7 (95% CI, 1.7-19.1; p < 0.005) as compared with the Bb and bb genotypes and 5.5 (95% CI, 2.3-13.2; p < 0.0001) for hyperthyroidism alone. The cumulative risk for low BMD in patients with hyperthyroidism and BB genotype was 31.4 (95% CI, 3.9-256; p < 0.0003). VDR Fok I genotypes showed no significant relationship with BMD or other general or bone-specific parameters. Thus, hyperthyroidism and the genetic background of a BB genotype may promote synergistically the development of low BMD in hyperthyroid patients. Screening for the BB genotype in these patients therefore could help to identify those with particularly high risk for the development of low BMD and allow early treatment.

Absorptiometry, Photon↗
PubMed2003

A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI mis-genotyping in the vitamin D receptor gene.

UNLABELLED: The BsmI polymorphism in the VDR gene has been extensively investigated by PCR and restriction digestion in bone genetics. A SNP within the corresponding region for the previously published reverse primer was observed and confirmed by DNA sequencing. BsmI mis-genotyping caused by this SNP could confound genetic findings. INTRODUCTION: By analyzing the FokI, BsmI, ApaI, and TaqI polymorphisms in the vitamin D receptor (VDR) gene, we observed a significantly different genotype distribution in the BsmI polymorphic locus with a deviation from Hardy-Weinberg equilibrium. One of the reasons for polymerase chain reaction (PCR) non-amplification may be a mismatched base at the primer binding region. Therefore, the aim of this study was to analyse whether a single nucleotide polymorphism (SNP), which has been recently described as TruI, is responsible for the discrepancy between expected and observed genotype frequencies. MATERIALS AND METHODS: The VDR genotypes were identified in a cohort of 165 peri- and postmenopausal women of white origin. PCR amplification was carried out using the originally published primers and followed by restriction cleavage. The BsmI genotypes were further verified with a reverse primer external to the original binding site. The presence of the TruI polymorphism under the previously published reverse primer was confirmed by a restriction digestion and DNA sequencing. In Bb subjects, the colocalization of b allele with the TruI restriction site on the same chromosome was confirmed by a simultaneous digestion of the PCR product with both BsmI and TruI restriction enzymes. RESULTS: The BsmI reanalysis with an external primer provided a higher number of heterozygous subjects with a proportionally smaller number of BB subjects, and the changed genotype distribution was under Hardy-Weinberg equilibrium (BB, 31; Bb, 80; bb, 54; r = 0.0203; p = 0.90). In our primary analysis, the presence of the TruI polymorphism led to a drop out of b allele during PCR amplification and thus to the false prevalence of BB genotypes (BB, 50; Bb, 61; bb, 54; r = 11.17; p = 0.01). CONCLUSION: The SNP in the region corresponding to the reverse primer may lead to BsmI mis-genotyping, which may have confounded some previous genetic studies.

Alleles↗
PubMed2025

Determining genotype and antimicrobial resistance of Salmonella Typhi in environmental samples by amplicon sequencing.

BACKGROUND: Estimates of the burden of typhoid fever due to Salmonella enterica serovar Typhi (S. Typhi) rely on data from clinical surveillance, which is rarely done in low income settings and is also limited by the poor sensitivity of the assays used and the reliance on health seeking by patients. Environmental surveillance for S. Typhi shed by symptomatic and asymptomatic individuals in wastewater offers a sensitive surveillance tool that could help to inform burden estimates. Sequencing S. Typhi direct from wastewater concentrates has the potential to identify circulating genotypes and associated antimicrobial resistance (AMR) genes, supporting public health interventions such as vaccination and antimicrobial usage. METHODOLOGY AND PRINCIPAL FINDINGS: We designed a multiplex targeted amplicon sequencing protocol for genotyping and determining AMR in S. Typhi from wastewater samples, targeting SNPs that identify genotypes of interest and both chromosomal and plasmid-borne AMR. PCR products were sequenced using the Oxford Nanopore Technologies (ONT) MinION, and genotypes and AMR identified using the GenoTyphi program. We tested this approach on samples from south India from both hospital outflow and wastewater collected from the community. All samples tested were suspected to be positive for S. Typhi following quantitative PCR for ttr, tviB, and staG gene targets. Out of 110 samples tested we were able to determine a genotype and/or AMR for 8. All samples that gave a genotype call suggested a genotype consistent with those found in clinical cases in India during the same time period and produced consensus sequences that clustered with S. Typhi when included in a phylogenetic tree. CONCLUSIONS: In this study, we provide proof of concept data for amplicon sequencing of S. Typhi in wastewater which with further optimisation could be used to complement clinical surveillance data or provide data on S. Typhi presence in the absence of clinical surveillance. This information can inform public health interventions, and the concept could be applied to other pathogens of interest for genotyping from environmental surveillance samples.

Salmonella typhi↗
PubMed2005

Efficiency control in large-scale genotyping using analysis of variance.

The efficiency of the genotyping process is determined by many simultaneous factors. In actual genotyping, a production run is often preceded by small-scale experiments to find optimal conditions. We propose to use statistical analysis of production run data as well, to gain insight into factors important for the outcome of genotyping. As an example, we show that analysis of variance (ANOVA) applied to the first-pass results of a genetic study reveals important determinants of genotyping success. The largest factor limiting genotyping appeared to be interindividual variation among DNA samples, explaining 20% of the variance, and a smaller reaction volume, sizing failure, and differences among markers all explained approximately 10%. Other potentially important factors, such as sample position within the plate and reusing electrophoresis matrix, appeared to be of minor influence. About 55% of the total variance could be explained by systematic factors. These results show that ANOVA can provide valuable feedback to improve genotyping efficiency. We propose to adjust genotype production runs using principles of experimental design in order to maximize genotyping efficiency at little additional cost.

Analysis of Variance↗
PubMed2006

Synthesis of soluble heat shock proteins in seminal root tissues of some cultivated and wild wheat genotypes.

Effect of heat stress on the synthesis of soluble heat shock proteins (HSPs) and the regrowth in seminal roots of three cultivated and three wild wheat genotypes was examined. In regrowth experiments, 2-d-old etiolated seedlings were exposed to 23 (control), 32, 35, 37 and 38 degrees C for 24 h, and 35 and 37 degrees C (24 h) followed by 50 degrees C (1 h). The lengths of the seminal roots generally decreased significantly at the end of 48 and 72 h recovery growth periods at 35, 37 and 38 degrees C temperature treatments compared with control. Genotypic variability was significant level at all temperature treatments for the seminal root length. Also, genotypic differences for the number of seminal roots were determined among the wheat cultivars and between the wild wheat species and the wheat cultivars at all temperature treatments; but genotypic differences among wild wheat species were only detected at 37-->50 degrees C treatment. Acquired thermotolerance for the seminal root length is over 50% at 37-->50 degrees C treatment. The genotypic variability of soluble heat shock proteins in seminal root tissues were analyzed by two-dimensional electrophoresis (2-DE). Total number of low molecular weight (LMW) HSPs was more than intermediate-(IMW) and high- (HMW) HSPs at high temperature treatments. The most of LMW HSPs which were generally of acidic character ranged between 14.2-30.7 kDa. The genotypes had both common (43 HSP spots between at least two genotypes and 23 HSP spots between 37 and 37-->50 degrees C) and genotype-specific (72 HSP spots) LMW HSPs.

Electrophoresis, Gel, Two-Dimensional↗
PubMed2006

Prevalence of hepatitis C virus (HCV) infection and HCV genotypes of hemodialysis patients in Salvador, Northeastern Brazil.

Hepatitis C virus (HCV) infection has been identified as the major cause of chronic liver disease among patients on chronic hemodialysis (HD), despite the important reduction in risks obtained by testing candidate blood donors for anti-HCV antibodies and the use of recombinant erythropoietin to treat anemia. A cross-sectional study was performed to estimate the prevalence of HCV infection and genotypes among HD patients in Salvador, Northeastern Brazil. Anti-HCV seroprevalence was determined by ELISA in 1243 HD patients from all ten different dialysis centers of the city. HCV infection was confirmed by RT-PCR and genotyping was performed by restriction fragment length polymorphism. Anti-HCV seroprevalence among HD patients was 10.5% (95% CI: 8.8-12.3) (Murex anti-HCV, Abbott Murex, Chicago, IL, USA). Blood samples for qualitative HCV detection and genotyping were collected from 125/130 seropositive HD patients (96.2%). HCV-RNA was detected in 92/125 (73.6%) of the anti-HCV-positive patients. HCV genotype 1 (77.9%) was the most prevalent, followed by genotype 3 (10.5%) and genotype 2 (4.6%). Mixed infections of genotypes 1 and 3 were found in 7.0% of the total number of patients. The present results indicate a significant decrease in anti-HCV prevalence from 23.8% detected in a study carried out in 1994 to 10.5% in the present study. The HCV genotype distribution was closely similar to that observed in other hemodialysis populations in Brazil, in local candidate blood donors and in other groups at risk of transfusion-transmitted infection.

Brazil↗
PubMed2000

Low prevalence of a periodontitis-associated interleukin-1 composite genotype in individuals of Chinese heritage.

BACKGROUND: Polymorphisms in the interleukin-1 (IL-1) gene cluster have been associated with an increased risk of developing certain diseases. A specific composite genotype of IL-1A and IL-1B polymorphisms, consisting of allele 2 of both IL-1A +4845 and IL-1B +3954 (formerly +3953) has been associated with an increased risk of severe adult periodontitis. Approximately 30% of the European population carry this genotype. The prevalence of the above IL-1A and IL-1B composite genotype in populations of different ethnic origins is unknown. Therefore, the primary aim of this study was to determine the prevalence of the IL-1 composite genotype in individuals of Chinese heritage, since epidemiologic studies indicate that periodontitis is widespread among ethnic Chinese. An additional aim was to evaluate if there was an association between the composite genotype and the severity of periodontal disease. METHODS: A convenience sample of 300 volunteers of Chinese heritage (ages 21 to 69 years) received a periodontal examination including full-mouth clinical attachment loss measurements, probing depths, plaque index scores, and bleeding on probing. Blood was collected from a fingerstick and placed on a blotting paper card. The blood samples were analyzed for IL-1A +4845 and IL-1B +3954 polymorphisms using polymerase chain reaction (PCR)-based methods. RESULTS: Only 7 of the 300 subjects (2.3%) carried the composite IL- 1 genotype consisting of allele 2 of both IL-1A +4845 and IL-1B +3954. Allele 2 of the IL-1A +4845 polymorphism was carried by 17.0% (51/300) of the subjects; of these, only 2 were homozygous. Allele 2 of the IL-1B +3954 polymorphism was much rarer with only 3.3% (10/300) of the study population carrying this marker. All of the people who carried the IL-1B polymorphism were heterozygous. Too few of the subjects were positive for the IL-1 composite genotype to establish any relationship with the susceptibility to periodontitis. CONCLUSIONS: It was concluded that the prevalences of both IL-1A and IL-1B polymorphisms are dramatically lower in Chinese than those reported for Europeans. Findings from this study bring into question the usefulness of the composite genotype of allele 2 of both IL-1A +4845 and IL-1B +3954 as a method for determining the susceptibility of Chinese patients to adult periodontitis.

Adult↗
PubMed2004

The influence of VDR genotype and exercise on ultrasound parameters in young adult Japanese women.

We investigated the relation between the vitamin D receptor (VDR) genotype and bone mass including the effect of exercise history as a measure of physical activity. BUA (broadband ultrasound attenuation), SOS (speed of sound) and Stiffness index of the calcaneus were measured using an ultrasound bone densitometer in 105 Japanese young adult women (age: mean+/-SD 20.4+/-4.1 years, ranged 18-37) by the calcaneal ultra sound measurement to assess bone mass. Physical activity was measured using a questionnaire about exercise and was calculated as exercise hours per week during prepuberty (elementary school), puberty (junior and senior high school) and a current period (from >18 years old). VDR genotype was determined by the BsmI restriction site of the VDR gene. Significant differences were observed in age-adjusted and menarche age-adjusted SOS and Stiffness between BsmI VDR genotypes. We also examined the interaction between VDR genotype and the amount of exercise. The association between ultrasound parameters and exercise hours per week was evaluated with simple regression analysis according to VDR genotype. There was a significant difference in the slope between VDR genotypes in regression analysis of exercise hours per week during senior high school for SOS (P<0.05). Furthermore, we conducted multiple regression analysis to examine the contribution of each factor to ultrasound parameters. VDR genotype was a significant independent variable for SOS (P<0.05). Exercise hours each week during senior high school was a significant independent variable for all ultrasound parameters (all: P<0.001). In conclusion, there was a partial significant relation between VDR genotype and ultrasound parameters, but the exercise hours each week during senior high school was the strongest independent factor for bone mass in young adult Japanese women.

Adolescent↗
PubMed2001

Genotype Arg/Arg, but not Trp/Arg, of the Trp64Arg polymorphism of the beta(3)-adrenergic receptor is associated with type 2 diabetes and obesity in a large Japanese sample.

OBJECTIVE: Despite a large number of studies, no association of the Trp64Arg polymorphism of the beta(3)-adrenergic receptor gene with obesity and type 2 diabetes has yet to be clearly elucidated. We examined the associations in a large population-based sample. RESEARCH DESIGN AND METHODS: A total of 1,685 subjects (935 women and 750 men, aged 58.7 +/- 12.4 years) from a cohort population (n = 3,706) of the Funagata Diabetes Study were divided into three groups according to genotypes: Trp/Trp (n = 1,155), Trp/Arg (n = 486), and Arg/Arg (n = 44). Glucose tolerance was diagnosed according to the 1985 World Health Organization criteria. Subjects who had a BMI > or =30 kg/m(2) were considered obese. Associations with the traits related to obesity, diabetes, hypertension, and dyslipidemia were also examined. The chi(2) test and analysis of variance were used for the association studies and to assess the differences in the traits' values, respectively. RESULTS: More subjects with genotype Arg/Arg were obese and had diabetes (13.6% for each) than those with genotype Trp/Trp (3.29%, P < 0.001; and 4.16%, P = 0.007, respectively) or genotype Trp/Arg (2.06%, P < 0.001; and 5.97%, P = 0.051, respectively). No significant differences in the frequencies of occurrence of these conditions were observed between genotypes Trp/Arg and Trp/Trp. Traits related to obesity, such as percent body fat (28.82 +/- 7.95 vs. 25.93 +/- 7.21, P = 0.038) and BMI (25.07 +/- 3.84 vs. 23.63 +/- 3.18, P = 0.018), were higher in the genotype Arg/Arg than in the genotype Trp/Trp groups. CONCLUSIONS: Genotype Arg/Arg, but not Trp/Arg, of the beta(3)-adrenergic receptor was associated with both obesity and type 2 diabetes in a large Japanese sample.

Aged↗
PubMed2003

RANTES promoter genotype is associated with diabetic nephropathy in type 2 diabetic subjects.

OBJECTIVE: To evaluate the effect of RANTES gene promoter polymorphism and RANTES receptor (CCR5 gene) promoter polymorphism on diabetic nephropathy in Japanese type 2 diabetic subjects. RESEARCH DESIGN AND METHODS: A total 616 Japanese subjects with type 2 diabetes were recruited. Polymorphisms of -28 C/G and -403 G/A in the RANTES gene promoter region, and of 59029 G/A in the CCR5 gene promoter region were detected by PCR-RFLP (restriction fragment length polymorphism). The association of these genotypes with nephropathy was analyzed. RESULTS: While the RANTES -403 genotype showed no association with nephropathy, the frequency of the -28G allele was significantly higher in the DN2 group (urinary albuminuria-to-creatinine ratio [ACR] >or=300 mg/g creatinine, serum creatinine <2.0 mg/dl) than in the DN0 (ACR <30 mg/g creatinine) and DN1 (ACR >or=30 mg/g creatinine and <300 mg/g creatinine) groups. The frequency of a RANTES -28G-positive genotype (C/G or G/G) was higher in the DN2 group than in the DN0 and DN1 groups (34% vs. 25 and 20%, P = 0.0268, chi(2) = 4.905), and the frequency of a CCR5 59029 A-positive genotype (G/A or A/A) was higher in the DN1 and DN2 groups than in the DN0 group (84 and 85% vs. 76%, P = 0.0123, chi(2) = 6.269). Discriminant analysis showed that the RANTES -28G-positive genotype and CCR5 59029A-positive genotype were independently associated with nephropathy. The percentage of macroalbuminuria was twofold higher in the subjects having -28G or 59029A and threefold higher in the subjects having -28G and 59029A than in the subjects without -28G and 59029A. CONCLUSIONS: The RANTES promoter -28G genotype and CCR5 promoter 59029A genotype may be independent risk factors for diabetic nephropathy in patients with type 2 diabetes and may have an additive effect on nephropathy.

Albuminuria↗
PubMed2002

Relationship between serum insulin-like growth factor-I and genotype during the postpartum interval in beef cows.

The objective of this study was to determine the effect of genotype and week postpartum on serum concentrations of IGF-I, body condition score (BCS), BW, and ovarian function in beef cows. Cows from the following genotypes were utilized in two consecutive years: Angus (A x A; n = 9), Brahman (B x B; n = 10), Charolais (C x C; n = 12), Angus x Brahman (A x B; n = 22), Brahman x Charolais (B x C; n = 19) and Angus x Charolais (A x C; n = 24). Serum concentrations of IGF-I, BCS, and BW were determined between wk 2 and 9 postpartum. Rectal ultrasound was used to determine days postpartum to first medium (6 to 9 mm) and first large (> or = 10 mm) follicle. Averaged across genotype, BCS decreased (P < 0.05) from 5.0 +/- 0.1 on wk 3 to 4.8 +/- 0.1 on wk 6 postpartum, and BW decreased (P < 0.05) between wk 2 and 3 and again between wk 4 and 9 postpartum. Averaged over year and week postpartum, serum IGF-I concentrations were greatest (P < 0.05) in B x B cows (46 +/- 5 ng/mL) compared with all other genotypes; lowest in A x A (12 +/- 4 ng/mL), C x C (13 +/- 4 ng/mL), and A x C cows (18 +/- 3 ng/mL); and intermediate (P < 0.05) in A x B (28 +/- 3 ng/mL) and B x C (26 +/- 3 ng/mL) cows compared with all other genotypes. Serum IGF-I concentrations did not change (P > 0.10) with week postpartum in C x C, A x A, and A x C cows, but increased (P < 0.05) between wk 2 and 7 postpartum in B x C, A x B, and B x B cows. Average interval to first medium (16 +/- 2 d) and first large (35 +/- 2 d) follicle did not differ (P > 0.10) among genotypes. Serum IGF-I concentrations correlated with BCS (r = 0.53 to 0.72, P < 0.001) but not with days to first large follicle (r = -0.19 to -0.22, P > 0.10). Averaged across genotypes, cows that lost BCS postpartum had lower (P < 0.01) serum IGF-I concentrations. Cows that calved with adequate BCS (i.e., > or = 5) had greater (P < 0.01) serum IGF-I concentrations postpartum than cows that calved with inadequate BCS (i.e., < 5) but days to first large and medium follicle did not differ (P > 0.10). In conclusion, concentrations of IGF-I in serum differed among genotypes and were associated with BCS but not days to first large or medium follicle in postpartum beef cows.

Animals↗
PubMed2006

No associations between PrP genotypes and reproduction traits in INRA 401 sheep.

In this study, the potential association of PrP genotypes with ewe reproductive traits and lamb growth traits was investigated. Data were included on ewes and lambs of the INRA 401 breed from the Bourges-La Sapinière INRA experimental farm. This breed was chosen because of good breeding (prolificacy and maternal abilities) and carcass qualities, and the large number of available animals with performance records and PrP genotypes. Ewes were categorized into 3 PrP genotype classes: ARR homozygous, ARR heterozygous, and animals without any ARR haplotype. Two analyses differing in the traits considered were carried out. Firstly, the potential association of the PrP genotype of ewes with their reproduction traits (fertility, litter size, and ovulation rate) was studied. The data included 801, 779, and 587 genotyped ewes for fertility, litter size, and ovulation rate, respectively. Secondly, the association of the PrP genotype of the ewes with growth traits of their lambs (birth weight, ADG between 10 and 30 d of age) was investigated. The data included 3,749 and 3,512 lambs for birth weight and ADG, respectively. The different traits were analyzed using an animal model, where the PrP genotype effect was included as a fixed effect. The reproductive traits were modeled under a probit or a threshold approach. The results of this study indicate no evidence of an association between PrP genotypes and reproductive and growth traits. It is unlikely that selection for scrapie resistance will have an effect on the reproductive or performance traits studied in the INRA 401 breed.

Animals↗
PubMed1996

Prevalence of hepatitis C genotypes among patients with chronic hepatitis C in Norway. Construct Group.

Among 116 patients with biopsy-confirmed chronic hepatitis C (Riba 2 or Riba 3 positive) in a multicenter study in southern Norway on interferon, we determined hepatitis C virus genotype by restriction fragment length polymorphism (RFLP) of the 5' NCR. The RFLP method was supplemented by and compared with a serological typing method based on the detection of type-specific antibody to peptide from the NS-4 region. A total of 102/106 (96%) patient sera showed detectable type-specific antibody to NS-4 peptides and corresponded in all cases, except two, to the genotype detected by polymerase chain reaction. Combining the results from RFLP genotyping and serotyping, genotype 1 was found in 40 (35%) (27 with 1a and 10 with 1b, 3 subtypes not determined), genotype 2 in 15 (13%) (subtype 2b in 14 and 1 subtype not determined), and genotype 3 in 58 (50%) of patients. The low mean age of the patients (34 years), the low prevalence of cirrhosis (3.5%), the short duration of the disease, and a high prevalence of intravenous-drug abusers may account for the low prevalence of infection with genotype 1b (9%). The epidemiological features of hepatitis C patients are markedly different from patient groups described in southern Europe in terms of risk factors, age, and genotype distribution.

Adult↗
PubMed1997

Effects of milk protein genotypes on the variation for milk production traits of Holstein and Jersey cows in California.

The objectives of this study were to form appropriate composite kappa-beta-alpha(s1)-CN genotypes in order to assess which genotypes were favorably associated with first lactation milk production, fat and protein percentages, and fat and protein production for data of 916 Holstein and 116 Jersey cows. Multiple-trait animal models were used with assumed fixed effects for herd, year and season of calving, age at calving, days open, composite kappa-beta-alpha(s1)-CN genotypes, and beta-LG genotypes. The differences between the beta-LG genotypes for production traits were not statistically significant for either breed. The proportion of phenotypic variance that was due to the composite kappa-beta-alpha(s1)-Cn genotypes was 5% for milk production, 4% for protein production, and 3% for fat percentage. The kappa-beta-alpha(s1)-CN genotype ABA1A2BB was superior to the comparable AAA1A2BB and ABA1A1BB genotypes by 252 and 338 kg for first lactation milk yield, respectively, and 8.7 and 11.5 kg for protein yield, respectively. Thus, neither the beta-CN A2 allele nor the kappa-CN B allele alone had a positive effect on milk and protein production, but the joint effect was strongly positive. These results may be explained by epistatic effects between the kappa-CN and beta-CN loci and possibly by closely linked quantitative trait loci with favorable alleles on the kappa-beta-alpha(s1)-CN BA2B haplotype.

Animals↗
PubMed2005

Influence of HLA-DRB1 alleles and HBV genotypes on interferon-alpha therapy for chronic hepatitis B.

AIM: To investigate the influence of HLA-DRB(1) alleles and HBV genotypes on interferon-alpha therapy for chronic hepatitis B. METHODS: HLA-DRB1*03, *07, *09, *12, *15 alleles were determined using polymerase chain reaction/sequence specific primer (PCR/SSP) technique in 126 patients with chronic hepatitis B and 76 normal control subjects in Shandong Province, and HBV genotypes were determined by nested-PCR analysis using type-specific primers in 126 patients. RESULTS: The positivity of HLA-DRB1*07 allele in chronic hepatitis B group was significantly higher than that in normal control group (chi(2) = 6.33, P<0.025, RR = 2.37). Among the 126 patients, genotype B was found in 38 (30.2%), genotype C in 69 (54.8%), and mixed genotype (B+C) in 19 (15.0%), genotypes D-F were not found. Among the 46 DRB1*07(+) patients, 7 were responders and 39 were non-responders among them (chi(2) = 6.71, P<0.05). The positivity of HLA-DRB1*07 and prevalence of HBV genotype C were significantly higher in non-responders than in responders. CONCLUSION: High positivities of HLA-DRB1 *07 allele and HBV genotype C are closely associated with the lower response to interferon-alpha therapy for chronic hepatitis B.

Adult↗