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AIM: To investigate the correlation between xanthelasma palpebrarum(XP)and the genetic factor of hypercholesterolemia and provide a basis for the elucidation of the pathogenesis of xanthelasma palpebrarum.METHODS: A total of 29 patients with XP who treated in the ophthalmology department of Foshan Sanshui District People's Hospital from November 2019 to January 2021 were selected. Peripheral blood was drawn, and the Next Generation Sequencing(NGS)technology was used to detect the genetic mutations of patients, while blood lipids of XP patients were analyzed.RESULTS: Gene mutations were detected in 21 patients with XP, among which 13 cases had hypercholesterolemia and 8 cases had normal cholesterol levels. Genes including STAP1, APOB, LDLRAP1, LDLR, PCSK9 and APOE mutated, and the types of gene mutation included 3-UTR mutation, in-frame deletion, missense mutation, 5-UTR mutation, synonymous mutation, intronic mutation, alternative splice variant, non coding transcript exon variant, and non coding transcript variant.CONCLUSION: There is a correlation between genetic factors of hypercholesterolemia and XP.
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Under the guide of the medical models, we clearly know the nature of many diseases. However, a lot of complicated diseases, the polygenic and multi-factorial diseases for example, are remained unexplained. Here, we proposed a new medical model, namely the Environment - Genetic - Homeostasis maintenance system (HMS) - Time medical model, which integrated four essential factors (environmental factor, genetic factor, HMS and time factor) of diseases together that can clearly clarify any diseases in form. Here, HMS is referred to the system involved in the maintaining of human homeostasis which is essential to the survival of a person and acts at the level of cell, tissue, organ and human body as a whole. Time factor mainly concerns age of people and duration of diseases. The integrative effects of the three factors decide the health status (disease, pre-disease, or health) of human body. As time goes, the possibility of catching a disease (determined by environments, genetics, and HMS) also dynamically changed. The model can fully explain pathogenesis of all diseases and health, and can be widely used in early diagnosis, treatment, prevention, and many aspects of any diseases. Therefore, it may change the modern medicine at many aspects.
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Esophageal cancer is a unique malignant disease in China. A fundamental difference exists between the Chinese population and the western population on esophageal cancer in terms of epidemiology, histogenesis, and carcinogenic risk factors. Therefore, ap-plying the western academic achievements to Chinese is difficult. Thus, Chinese scientists have the responsibility to conquer esopha-geal cancer in China. This article reviews the progress of esophageal cancer focused on the molecular mechanism for interactions of ge-netic and environmental risk factors and human esophageal multistage carcinogenesis.
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It has been confirmed that genetic factor plays an im-portant role in the pathogenesis of depression. MTHFR is one of the key enzymes in folate and homocysteine ( Hcy ) metabolism which participates in Alzheimer’ s disease, depression and other mental illnesses. MTHFR-677C/T polymorphism causes the de-crease of enzyme activity and heat resistance, which will lead to lower folate and elevated plasmal Hcy concentration. All of these results put together will cause the central neuronal damage and microvascular damage and affect the synthesis of central neuro-transmitter and methylation of biogenic amines and phospholipids in the central nervous system, which will eventually induce vari-ous mental illnesses like depression, etc. This article reviews the research advancement in the relationship between MTHFR-677C/T polymorphism and depression in recent years on the basis of MTHFR gene mutation and function, lack of folic acid, elevated plasma homocysteine levels and the MTHFR-C677T polymor-phism. Based on which we hope to bring new ideas about treat-ment of depression.
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BACKGROUND: Incidence of breast cancer (BC) is increasing in most of the countries, including the areas which have had previously low rates. AIM: The aim of this prospective study was to analyze the pedigrees of the patients for detecting hereditary factor prevalence and to investigate the possible risk factors associated with BC in a sample population from Goa. MATERIALS AND METHODS: A prospective analysis was performed for 95 BC patients between 2011 and 2012. For assessing the risk factors, a proforma was designed and the necessary data was collected by interview. The process of collecting family history for drawing the pedigree included interviewing the informant. STATISTICAL ANALYSIS USED: Online calculators of statistics were used for standard deviation at www.easycalculation.com and fishers test at www.graphpad.com. RESULTS: High frequency of BC was revealed in the sample population from Goa. This could be attributed to the changes in reproductive patterns, physical inactivity and obesity, or general increase in BC awareness. Factors which did not influence the frequency of BC in the sample population include parity, oral contraceptives, alcohol consumption, occupation, exercise, and nutritional supplement. High incidence of family history of 168/1000 individuals was observed in the present study. CONCLUSIONS: Proper management of BC is possible after assessment of cumulative risk of BC in females by a thorough study of both environmental and genetic factors. Cumulative risk can be greatly reduced by controlling the environmental risk.
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PURPOSE: We aimed to examine if past and more recent body mass index (BMI) changes are associated with eating behavior (EB) traits and whether these associations are due to non-genetic factors. MATERIALS AND METHODS: In 1321 Korean twins and family members, recent and past BMI change groups were defined using quartiles of BMI change between first and second visits over 2.4+/-0.9 years and BMI change between 20 years old and second visit, respectively. We applied linear mixed analysis for relationships of past or recent BMI change groups and each EB (restrained, external, and emotional EB using the Dutch Eating Behavior Questionnaire) assessed at second visit after adjusting for household effect and covariates (age, gender, education, medical history of diabetes, hypertension, and dyslipidemia, alcohol use, physical activity, smoking habit, and calorie intake). In monozygotic twin pairs, paired t-test for within-pair comparison and conditional logistic regression analysis were conducted regarding EB. RESULTS: Greater past BMI change was associated with higher restrained eating scores (P for trend=0.031), whereas greater recent BMI change was associated with higher external eating scores (P for trend=0.046). In co-twin-control analysis, twins with greater past BMI change were more likely to have higher restrained eating scores as compared with their co-twins with lower past BMI change (odds ratio 1.80; 95% confidence interval 1.13-2.87), whereas there were no associations between recent BMI change and external eating scores. CONCLUSION: Greater BMI change since 20 years old is associated with higher dietary restraint, and non-genetic factors explain this relationship.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Body Composition/physiology , Body Mass Index , Body Weight/physiology , Feeding Behavior/physiology , Surveys and Questionnaires , Twins, MonozygoticABSTRACT
Narcolepsy is a disabling sleep disorder characterized mainly by irresistible excessive daytime sleepiness.It seriously influences patient's academic,family,and social function.The etiology of narcolepsy is still elusive,but the hereditary and environmental factors have been suggested to contribute the most.It is a multi-gene regulation disease,the researches of Human Leucocyte Antigen(HLA) gene type HLA-DQB1 * 0602 and HLA-DRB1 * 1501 are most popular in recent years.Especially the HLA-DQB1 * 0602 is regard as the major HLA susceptibility allele for narcolepsy almost in all ethnic groups.And the hypocretin excreting neurons and the hypocretin's deficits would directly lead to somnolence.Some environmental factors which are newly found these years are still playing important roles,such as the contact with certain antigens,infection of beta hemolytic streptococcus,passive smoking and so on.
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To date, numerous case-control studies have shown the complexity of the pathogenesis of Parkinson's disease (PD). In terms of genetic factors, several susceptibility genes are known to contribute to the development of PD, including alpha-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). In addition, numerous recent epidemiological studies have shown that several environmental factors are either risk factors for PD or protective factors against PD. Risk factors identified include herbicides and pesticides (e.g., paraquat, rotenone, and maneb), metals (e.g., manganese and lead), head trauma, and well water. In contrast, smoking and coffee/caffeine consumption are known to be protective against PD. A recent finding in this field is that environmental-genetic interactions contribute more to the pathogenesis of PD than do genetic factors or environmental factors alone. In this review, I will discuss how these interactions promote the development of PD.
Subject(s)
alpha-Synuclein , Case-Control Studies , Craniocerebral Trauma , Glucosylceramidase , Herbicides , Manganese , Metals , Paraquat , Parkinson Disease , Pesticides , Phosphotransferases , Risk Factors , Rotenone , Smoke , Smoking , Water WellsABSTRACT
Bronchial asthma is a chronic inflammatory disease of the airways in which there isincreased responsiveness to various stimuli, resulting in wheezing, shortness of breath, and coughing. Interactions between environmental and genetic factors may modify both the susceptibility to and severity of the disease. In recent years, much progress has been made in improving our understanding of the genetic basis of bronchial asthma, which has led to the identification of several genetic factors. This review is an update of genetic studies of bronchial asthma and recent findings.
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Asthma , Cough , Dyspnea , Respiratory SoundsABSTRACT
king condition before pregnancy were associated with the development of polydactyly and syndactyly.
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Anatomically, we have known that the first toe is composed of 2 phalangeal bones (proximal and distal phalanx) and the second, third, fourth, fifth toe are composed of 3 phalangeal bones (proximal, middle, and distal phalanx). But in Korean the 5th toe is commonly seen as 2 phalangeal bones in foot plain X-ray. In this study, we observed the numbers of phalangeal bones of fifth toe in Korean and analyzed the relation with several environmental factors and genetic factor. The data of occupation, age, body weight and foot length as well as the foot radiograph were obtained in 175 persons without any foot lesion. With the coorperative persons among them showing triphalangeal 5th toe as the index cases, radiograph of 12 family were studied to analyse the pedigree. As result, total frequency of the 5th toe symphalangism was 74.29% (male 74.2%, female 73.36%). There was no statistical difference between male and female. The bilaterality of the symphalangism was 98.46%. The occupation group were farmer, labor, self-support, white collar, student, housewife, there was no correlation between the kind of occupation and the frequency of the symphalangism. Also there was no correlation between body weight or foot length and the symphalangism. In conlusion, the two-phalanged fifth toe might be related with genetic factor rather than several environmental factors such as sex, age, occupation, body weight and length of foot. From the pedigree study we concluded the genetic trait of the triphalangism might be the autosomal recessive.
Subject(s)
Female , Humans , Male , Body Weight , Foot , Occupations , Pedigree , ToesABSTRACT
PURPOSE: To evaluate the genetic factor in development of comitant strabismus. METHODS: We retrospectively reviewed 48 patients of 24 twins classified into monozygotic or dizygotic twin and analyzed gestational period and birth weight, refraction, phenotype and age of onset, amount of deviation, surgical history, and associated systemic or other ocular anomaly except strabismus. RESULTS: Seventeen of the 24 twins (70.8%) showed phenotypic concordance. The concordance was significantly higher in monozygotic twins (15 of the 18 pairs, 83.3%) than in dizygotic twins (2 of the 6 pairs, 33.3%) (p=0.038). Out of 15 twins with monozygosity who showed concordance, the predominant phenotype was intermittent exotropia (9 pairs, 60.0%). Concordance rate according to phenotype was high in refractive or nonrefractive accommodative esotropia (3 of the 3 pairs, 100.0%) and intermittent exotropia (9 of the 10 pairs, 90.0%). Most of concordant pairs showed similarity in age of onset and amount of deviation between first and second child. CONCLUSIONS: The concordance rate in monozygotic twin was high, especially in refractive or nonrefractive accommodative esotropia and intermittent exotropia, and therefore genetic factor can be responsible for the development of these types of strabismus.
Subject(s)
Child , Humans , Age of Onset , Birth Weight , Esotropia , Exotropia , Phenotype , Retrospective Studies , Strabismus , Twins , Twins, Dizygotic , Twins, MonozygoticABSTRACT
It is well known that individual differences exist in exercise capacity or trainability. Several studies have shown that these individual differences are brought about by environmental effects such as life-style, diet and genetics. The potential of several specific genes to cause individual differences in endurance capacity or trainability has been investigated. The <I>angiotensin-converting enzyme (ACE) </I> gene, which has <I>insertion (I) </I> /deletion (<I>D</I>) polymorphism, is one of the most studied genes. Montgomery et al. reported that elite high-altitude mountaineers had higher <I>I</I> allele frequency of the <I>ACE</I> gene than did sedentary males. Moreover, they reported that subjects with <I>II</I> homozygotes showed higher trainability during a 10-week endurance training program than did individuals with <I>ID</I> heterozygotes or <I>DD</I> homozygotes. However, the results reported by Rankinen et al. did not support their results in terms of the relation between <I>ACE</I> genotype and cardiorespiratory endurance. Although numerous studies have reported a relationship between these two items, it remains controversial. Furthermore, mitochondrial DNA (mtDNA), the creative kinase and the <I>Na</I><SUP>+</SUP>-<I>K</I><SUP>+</SUP>-<I>ATPase</I> ∂<I>2</I> genes have been studied as genes that may dictate individual differences in endurance capacity or trainability. We are going to report about the relation between these genes and exercise capacity and trainability.
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Several cases of familial occurrence of gliomas have been reported, but little has been known on the importance of genetic factors, which indeed remains controversial. In establishing the genetic basis for cancer susceptibility, the evaluation of a single family is perhaps the most satisfactory and meaningful approach. We report a family in which the 47-year-old father had glioblastoma in cerebellar vermis and his 14-year-old daughter developed pilocytic astrocytoma in cerebellar hemisphere. Karyotypic analysis of this family showed no abnormal findings in chromosomes.
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Adolescent , Humans , Middle Aged , Astrocytoma , Fathers , Glioblastoma , Glioma , Karyotype , Nuclear FamilyABSTRACT
The Freeman-Sheldon syndrome (FSS) is a rare congenital myopathy. Main manifestations are "whistling face", camptodactyly with ulnar deviation of the finger and talipes equinovarus. Myopathic fibrotic circumoral musculature result in microstomia with the characteristic protruding pursed "whistling lip" and mandibular and laryngeal development may also be abnormal. Thus the patients with FSS are expected to difficult intubation and the use of muscle relaxant should not be expected to improve intubating condition. We report a children with the Freeman-Sheldon syndrome who was intubated with fiberoptic laryngoscope and discuss anesthetic consideration.