• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6005-6010
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• 2012

Background: Nasopharyngeal carcinoma (NPC) is endemic in Southern Chinese and Southeast Asian populations. Geographical and ethnic clustering of the cancer is due to genetic, environmental, and lifestyle risk factors. This case-control study aimed to identify or confirm both genetic and non-genetic risk factors for NPC in one of the endemic countries, Malaysia. Materials and Methods: A panel of 768 single-nucleotide polymorphisms (SNPs) previously associated with various cancers and known non-genetic risk factors for NPC were selected and analyzed for their associations with NPC in a case-control study. Results: Statistical analysis identified 40 SNPs associated with NPC risk in our population, including 5 documented previously by genome-wide association studies (GWAS) and other case-control studies; the associations of the remaining 35 SNPs with NPC were novel. In addition, consistent with previous studies, exposure to occupational hazards, overconsumption of salt-cured foods, red meat, as well as low intake of fruits and vegetables were also associated with NPC risk. Conclusions: In short, this study confirmed and/or identified genetic, environmental and dietary risk factors associated with NPC susceptibility in a Southeast Asian population.

• Asian-Australasian Journal of Animal Sciences
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• 제15권2호
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• pp.166-171
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• 2002

The main objective of the present study is to estimate the crossbreeding parameters in respect to serum lysozyme level in broilers. The experiment involved a complete $4{\times}4$ diallel design using four synthetic broiler lines namely Coloured Synthetic Male Line (CSML), White Synthetic Male Line (WSML), Coloured Synthetic Female Line (CSFL) and Naked Neck Line (NNL). The lyophilised Micrococcus lysodeikticus suspension was used to detect the lysozyme level in the serum of birds. The data were analysed by least-squares method to find the effects of genetic and non-genetic factors using appropriate model. The crossbreeding parameters for this trait were estimated by complete diallel model assuming the effect of each synthetic line as fixed. The results indicated that additive and non-additive genetic variation attributed to minor genes at many loci is important for the genetic control of serum lysozyme level in chickens. Total non-additive components of variance also showed significant amount of heterosis in crossbred progenies, and therefore exploitation of non-additive component of variance is possible for improvement in serum lysozyme level in broilers. The overall results suggested that for commercial broiler production system, the selection for specialised line on the basis of serum lysozyme level and subsequent crossing of parent lines could enhance the immunocompetence status in relation to serum lysozyme level in crossbred chickens.

• Asian-Australasian Journal of Animal Sciences
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• 제16권9호
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• pp.1247-1253
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• 2003

Selection for increased milk production in dairy cows has often resulted in a higher incidence of disease and thus incurred a greater health costs. Considerable interests have been shown in breeding dairy cattle for disease resistance in recent years. This paper discusses the limitations of breeding dairy cattle for genetic resistance in six parts: 1) complexity of disease resistance, 2) difficulty in estimating genetic parameters for planning breeding programs against disease, 3) undesirable relationship between production traits and disease, 4) disease as affected by recessive genes, 5) new mutation of the pathogens, and 6) variable environmental factors. The hidden problems of estimating genetic and phenotypic parameters involving disease incidence were examined in terms of categorical nature, non-independence, heterogeneity of error variance, non-randomness, and automatic relationship between disease and production traits. In light of these limitations, the prospect for increasing genetic resistance by conventional breeding methods would not be so bright as we like. Since the phenomenon of disease is the result of a joint interaction among host genotype, pathogen genotype and environment, it becomes essential to adopt an integrated approach of increasing genetic resistance of the host animals, manipulating the pathogen genotypes, developing effective vaccines and drugs, and improving the environmental conditions. The advances in DNA-based technology show considerable promise in directly manipulating host and pathogen genomes for genetic resistance and producing vaccines and drugs for prevention and medication to promote the wellbeing of the animals.

• Asian-Australasian Journal of Animal Sciences
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• 제18권2호
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• pp.151-157
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• 2005

Sheep production is affected by genetic and non-genetic factors. A knowledge of these factors is essential for efficient management and for the accurate estimation of breeding values. The objective of this study was to establish the non-genetic factors which affect birth weight and weaning weight in Dorper, Mutton Merino and indigenous Sabi sheep breeds. A total of 2,625 birth and weaning weight records from Grasslands Research Station collected from 1991 through 1993, were used. The records were collected from indigenous Sabi (939), Dorper (807) and Mutton Merino (898) sheep. A mixed classification model containing the fixed effects of year, birth status and sex was used for identification of non-genetic factors. Sire within breed was included as a random effect. Two factor interactions and three factor interactions were important in indigenous Sabi, Mutton Merino and Dorper sheep. The mean birth weights were 4.37${\pm}$0.04 kg, 4.62${\pm}$0.04 kg and 3.29${\pm}$0.04 kg for Mutton Merino, Dorper and Sabi sheep, respectively. Sire had significant effects (p<0.05) on birth weight in Mutton Merino and indigenous Sabi sheep. Year of lambing had significant effects (p<0.05) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep. The effect of birth status was non significant in Dorper and Mutton Merino sheep while effect of birth status was significant on birth weight in indigenous Sabi sheep. In Indigenous Sabi sheep lambs born as singles (3.30${\pm}$0.05 kg) were 0.23 kg heavier than twins (3.07${\pm}$0.05 kg), in Mutton Merino lambs born as singles (3.99${\pm}$0.08 kg) were 0.07 kg heavier than twins (3.92${\pm}$0.08 kg) and in Dorper lambs born as singles (4.41${\pm}$0.04 kg) were 0.02 kg heavier than twins (4.39${\pm}$0.04 kg). On average males were heavier than females (p<0.05) weighing (3.32${\pm}$0.04 kg vs. 3.05${\pm}$0.07 kg) in indigenous Sabi, 4.73${\pm}$0.03 kg vs. 4.08${\pm}$0.05 in Dorper and 4.26${\pm}$0.07 kg vs. 3.66${\pm}$0.09 kg in Mutton Merino sheep. Two way factor interactions of sire*year, year*sex and sex*birth status had significant effects (p<0.05) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep while the effect of year*birth status was non significant on birth weight in Indigenous Sabi sheep. The three way factor interaction of year*sex*birth status had a significant effect (p<0.01) on birth weight in indigenous Sabi and Mutton Merino. Tupping weight fitted as a covariate had significant effects (p<0.001) on birth weight in indigenous Sabi, Mutton Merino and Dorper sheep. The mean weaning weights were 17.94${\pm}$0.31 kg, 18.19${\pm}$0.28 kg and 14.39${\pm}$0.28 kg for Mutton Merino, Dorper and Indigenous Sabi sheep, respectively. Effects of sire and sire*year were non significant on weaning weight in Dorper and Mutton Merino while year, sex and sex*year interaction had significant effects (p<0.001) on weaning weight. On average males were heavier than females (p<0.001) at weaning. The respective weaning weights were 18.05${\pm}$0.46 kg, 18.68${\pm}$0.19 kg, 14.14${\pm}$0.15 kg for males and 16.64${\pm}$0.60 kg, 16.41${\pm}$0.31 kg, 12.64${\pm}$0.32 kg for females in Mutton Merino, Dorper and Indigenous Sabi sheep. Lambs born as singles were significantly heavier at weaning than twins, 0.05 kg, 0.06 kg and 0.78 kg for Mutton Merino, Dorper and Indigenous Sabi sheep, respectively. Effect of tupping weight was highly significant on weaning weight. The three way factor interaction year*sex*birth status had a significant effect (p<0.01) on weaning weight. Correction for environmental effects is necessary to increase accuracy of direct selection for birth weight and weaning weight.

• Journal of Genetic Medicine
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• 제6권1호
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• pp.8-24
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• 2009

난청의 약 50%는 유전적 요소가 원인이기 때문에 난청의 유전적 배경을 이해하는 것은 중요하다. 현재까지 150개 이상의 원인유전자들이 밝혀져 있다. 이번 종설에서는 유전성 난청의 분류, 유전성 난청 원인규명의 난점, 유전성 난청과 관련된 내이의 구조와 기능, 증후군성난청, 비증후군성난청, 미토콘드리아 유전성 난청, 그리고 다인자성 난청에 관해 논하고자 한다. 그리고 유전성 난청을 가진 환자의 치료적 접근과 유전적 상담을 간략하게 설명하고, 마지막으로 유전성 난청에 대한 앞으로의 연구 방향을 제시하고자 한다.

• Clinical and Experimental Pediatrics
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• 제65권4호
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• pp.172-181
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• 2022

Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors. Most cases of precocious puberty (PP) are diagnosed as central PP (CPP), defined as premature activation of the HPG axis. The cause of CPP in most girls is not identifiable and, thus, referred to as idiopathic CPP (ICPP), whereas boys are more likely to have an organic lesion in the brain. ICPP has a genetic background, as supported by studies showing that maternal age at menarche is associated with pubertal timing in their offspring. A gain of expression in the kisspeptin gene (KISS1), gain-of-function mutation in the kisspeptin receptor gene (KISS1R), loss-of-function mutation in makorin ring finger protein 3 (MKRN3), and loss-of-function mutations in the delta-like homolog 1 gene (DLK1) have been associated with ICPP. Other genes, such as gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1), lin-28 homolog B (LIN28B), neuropeptide Y (NPYR), tachykinin 3 (TAC3), and tachykinin receptor 3 (TACR3), have been implicated in the progression of ICPP, although their relationships require elucidation. Environmental and socioeconomic factors may also be correlated with ICPP. In the progression of CPP, epigenetic factors such as DNA methylation, histone posttranslational modifications, and non-coding ribonucleic acids may mediate the relationship between genetic and environmental factors. CPP is correlated with short- and long-term adverse health outcomes, which forms the rationale for research focusing on understanding its genetic and nongenetic factors.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.19-24
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• 2015

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders. These include stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia and specific language impairment. Among these disorders, stuttering is the most common speech disorder characterized by disruptions in the normal flow of speech. Twin, adoption, and family studies have suggested that genetic factors are involved in susceptibility to stuttering. For several decades, multiple genetic studies including linkage analysis were performed to connect causative gene to stuttering, and several genetic studies have revealed the association of specific gene mutation with stuttering. One notable genetic discovery came from the genetic studies in the consanguineous Pakistani families. These studies suggested that mutations in the lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG and NAPGA) are associated with non-syndromic persistent stuttering. Although these studies have revealed some clues in understanding the genetic causes of stuttering, only a small fraction of patients are affected by these genes. In this study, we summarize recent advances and future challenges in an effort to understand genetic causes underlying stuttering.

• Journal of Animal Science and Technology
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• 제51권2호
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• pp.111-122
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• 2009

비유일수별로 변화하는 유생산기록을 305일로 보정하기 위하여, 분만 시 나이와 분만계절, 산차를 고려한 305일 보정계수를 개발하였고, 비선형적 특성에 적합하고 사용을 용이하게 하는 거듭제곱 함수 형태의 보정 공식을 개발하였다. 각각의 보정계수가 얼마나 정확하게 기록을 보정 할 수 있는 지 측정하기 위하여 실제 305일 누적 착유량 및 개체별 누적 착유량 평균과의 오차를 비교 분석 한 결과 새롭게 개발된 보정계수의 오차가 가장 적게 나타났으며, 이를 토대로 한 보정공식 역시 작은 오차를 나타냈다. 유생산량의 평균치가 최근까지 많이 증가하였음에도 불구하고 2산 이상의 개체에서 2002년에 개발된 보정계수의 오차가 낮게 나타난 것으로 보아 앞으로의 보정계수 개발에는 2002년 보정계수 개발에 사용되었던 건유효과에 대한 부분을 추가해야 더 정확하게 보정할 수 있을 것으로 사료된다. 유량에서의 보정계수 개발 및 보정식 개발 방법으로 유지방, 유단백, 무지고형분량에 대해서도 비유 일수 305일째의 누적량으로 보정할 수 있는 보정 공식을 개발하였다.

• Biomolecules & Therapeutics
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• 제27권4호
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• pp.342-348
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• 2019

Ossification of the posterior longitudinal ligament (OPLL) can be defined as an ectopic ossification in the tissues of spinal ligament showing a hyperostotic condition. OPLL is developed mostly in the cervical spine and clinical presentations of OPLL are majorly myelopathy and/or radiculopathy, with serious neurological pathology resulting in paralysis of extremities and disturbances of motility lowering the quality of life. OPLL is known to be an idiopathic and multifactorial disease, which genetic factors and non-genetic factors including diet, obesity, physical strain on the posterior longitudinal ligament, age, and diabetes mellitus, are involved into the pathogenesis. Up to now, surgical management by decompressing the spinal cord is regarded as standard treatment for OPLL, although there might be the risk of development of reprogression of ossification. The molecular pathogenesis and efficient therapeutic strategy, especially pharmacotherapy and/or preventive intervention, of OPLL has not been clearly elucidated and suggested. Therefore, in this review, we tried to give an overview to the present research results on OPLL, in order to shed light on the potential pharmacotherapy based on molecular pathophysiologic aspect of OPLL, especially on the genetic/genomic factors involved into the etiology of OPLL.

• Asian-Australasian Journal of Animal Sciences
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• 제22권4호
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• pp.459-464
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• 2009

Data and pedigree information for Lori-Bakhtiari sheep used in this study were 6,239 records of lamb mortality from 246 sires and 1,721 dams, collected from 1989 through 2007 from a Lori-Bakhtiari flock at Shooli station in Shahrekord. The traits investigated were cumulative lamb mortality from birth up to 7 days, up to 14 days, up to 21 days, and up to 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11 and 12 months of age. The models included fixed factors that had significant effects and random direct genetic, maternal genetic and maternal permanent environmental effects. Variance components were estimated using the restricted maximum likelihood procedure applying three animal models with and without maternal and common environmental effects. The overall mean of cumulative lamb mortality rate was 22.95% from birth to 1 year of age, while the overall mortality rate up to 3 and from 3 to 6 months of age was 6.14% and 12.76%, respectively. The mortality rate after 6 months of age declined as the lambs grew older. The age of dam had no important effect on lamb mortality. The type of birth was more important during the preweaning period than at later ages, and lamb mortality rate was higher in twins. The year of birth, month of birth and sex of lamb significantly (p${\leq}$0.01) affected the cumulative lamb mortality rate at all ages. The least square mean of mortality during the final one-third of the lambing period was higher than the first and middle onethird of the lambing period. Male lambs were found to be at a higher risk of mortality than females. Birth weight of the lamb had a highly significant (p${\leq}$0.01) effect on lamb mortality at all ages as a quadratic regression. Direct and maternal heritability estimates of lamb mortality ranged from 0.01 to 0.13 and 0.01 to 0.05, respectively. Direct heritability increased with age of lamb, while maternal effects (genetic and common environmental) were important in the preweaning period. These results indicate that lamb mortality can be reduced first through farm management practices and secondly by genetic selection. Both animal and maternal effects should be considered in breeding programmes for reducing lamb mortality at preweaning.