scholarly journals Familial Aggregation and Heritability of Myopia: A Local Population Survey in Shanxi, China

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Qin Wang ◽  
Hao-Yu Bi ◽  
Chun-Fang Wang
Keyword(s):  
Family History ◽  
High Myopia ◽  
Genetic Factors ◽  
Familial Aggregation ◽  
Local Population ◽  
First Degree Relatives ◽  
Refractive Status ◽  
Students First ◽  
History Of ◽  
Family Aggregation

Purpose. To further determine the roles of environmental and genetic factors in the development of myopia, a comprehensive survey was performed. The guidance for myopia-susceptible people is established which might help prevent or delay the onset and development of myopia. Methods. 1,852 students were recruited using the multistage sampling approach from the Gaoping county in Shanxi. The refractive status of students was examined using an autorefractometer, and the refractive status of students’ first-degree relatives was collected using a well-designed questionnaire. Family aggregation of myopia was analyzed according to the myopic status of the students (nonmyopic or myopic group). The prevalence and heritability of myopia in students and their first-degree relatives were further explored by subdividing into mild, moderate, and high myopia groups. Significance analysis among each group was performed by the χ2 test using SPSS 25.0 software. Falconer’s method was used to calculate the inheritability of myopia. Results. A total of 1,852 subjects were recruited in this study, and 1,813 subjects were finally included. The family aggregation of myopia in the myopic student group (34.7%) was significantly higher than that in the nonmyopic group (8.5%). The prevalence of mild, moderate, and high myopia in children (students and siblings) was higher than that in their parents. The rate of high myopia (6.33%) was significantly higher among students with one or both myopic parents than those without myopic parents (3.85%). The heritability of mild, moderate, and high myopia among parents-offspring was 3.72%, 20.47%, and 48.00%, respectively. The heritability of mild, moderate, and high myopia among siblings was 17.50%, 86.09%, and 78.75%, which is significantly higher than that among parents-offspring. In addition to genetic factors, extensive near-work time, higher education pressure, and minimal outdoor activities contribute significantly to mild and moderate myopia. Conclusions. Myopia is of high risk due to familial aggregation. Students with a family history of myopia are more likely to have high myopia than those without family history. The occurrence and development of high myopia are affected by both the genetic and environmental factors, which could either weaken or strengthen myopia. Therefore, students with a family history of myopia should pay close attention to their eye health to avoid the occurrence of myopia and the deepening of diopter, which may lead to high myopia and its related complications.

scholarly journals Family history of cancer in first degree relatives and risk of cancer of unknown primary

2021 ◽  
Author(s):  
Alexander L. R. Grewcock ◽  
Karlijn E. P. E. Hermans ◽  
Matty P. Weijenberg ◽  
Piet A. Brandt ◽  
Caroline Loef ◽  
...  
Keyword(s):  
Family History ◽  
Cancer Of Unknown Primary ◽  
Unknown Primary ◽  
Family History Of Cancer ◽  
First Degree Relatives ◽  
History Of ◽  
Risk Of Cancer ◽  
History Of Cancer

Obtaining a Family Psychiatric History: Is it Worth the Effort?

1993 ◽  
Vol 38 (9) ◽  
pp. 590-594 ◽  
Author(s):  
Ronald A. Remick ◽  
Adele D. Sadovnick ◽  
Boris Gimbarzevsky ◽  
Raymond W. Lam ◽  
Athanasios P. Zis ◽  
...  
Keyword(s):  
Family History ◽  
Psychiatric Disorder ◽  
Mood Disorder ◽  
Mood Disorders ◽  
Medical Records ◽  
Psychiatric History ◽  
First Degree Relatives ◽  
History Of ◽  
Generated Family ◽  
Index Cases

The purpose of this study was to determine whether, for first-degree relatives of patients presenting to a mood disorders clinic, family history information on psychiatric conditions collected by a psychiatrist and incorporated into the patient's medical records is as informative as that gathered during an interview specifically designed to collect family history data. The study group consisted of 472 first-degree relatives of 78 randomly selected index cases from a large mood disorders genetic database. Family history of psychiatric disorders recorded in regular psychiatric medical records (“clinician history”), and data obtained by a genetic counsellor administering specific family psychiatric history questionnaires to patients and multiple family informants (“family history”) were compared using a kappa statistic. Good agreement between the two methods on the presence or absence of a psychiatric disorder was found among first-degree relatives of index cases, but poor agreement was found with respect to the presence or absence of a specific mood disorder diagnosis(es) in a relative. The results suggest that a clinician-generated family psychiatric history is sensitive to the presence or absence of a psychiatric disorder when compared to a more structured detailed genetic interview. However, for research purposes, a clinician-generated family psychiatric history of a specific mood disorder diagnosis, without supporting collateral information, may not be reliable for use in supporting a mood disorder diagnosis in a patient and/or his relatives.

scholarly journals Familial Aggregation of Psoriasis and Co-Aggregation of Autoimmune Diseases in Affected Families

2019 ◽  
Vol 8 (1) ◽  
pp. 115 ◽  
Author(s):  
Yu-Huei Huang ◽  
Chang-Fu Kuo ◽  
Lu-Hsiang Huang ◽  
Mei-Yun Hsieh
Keyword(s):  
Autoimmune Diseases ◽  
Genetic Factors ◽  
Familial Aggregation ◽  
Population Based ◽  
Study Cohort ◽  
Genetic Contribution ◽  
Degree Relative ◽  
Nationwide Study ◽  
Relative Risks ◽  
History Of

Psoriasis is considered to result from the interaction of genetic factors and environmental exposure. The evidence for familial aggregation in psoriasis has been reported but population-based studies related to the magnitude of genetic contribution to psoriasis are rare. This study aimed to evaluate the relative risks of psoriasis in individuals with affected relatives and to calculate the proportion of genetic, shared, and non-shared environmental factors contributing to psoriasis. The study cohort included 69,828 patients diagnosed with psoriasis enrolled in National health Insurance in 2010. The adjusted relative risks (RR) for individuals with an affected first-degree relative and affected second-degree relative were 5.50 (95% CI (Confidence Interval), 5.19–5.82) and 2.54 (95% CI, 2.08–3.12) respectively. For those who have affected first-degree relatives, their RR was 1.45 (95% CI, 1.17–1.79) for Sjogren’s syndrome and 1.94 (95% CI, 1.15–3.27) for systemic sclerosis. This nationwide study ascertains that family history of psoriasis is a risk factor for psoriasis. Individuals with relatives affected by psoriasis have higher risks of developing some autoimmune diseases.

scholarly journals Assessment of plasma blood sugar level in first degree relatives of known type 2 diabetes patients: a descriptive study from Maharashtra, India

2020 ◽  
Vol 7 (3) ◽  
pp. 482
Author(s):  
J. K. Deshmukh ◽  
P. Y. Mulay ◽  
Amit G. Naghate ◽  
Anant A. Takalkar
Keyword(s):  
Family History ◽  
Health Check ◽  
Steady Increase ◽  
Diabetic Patients ◽  
Maternal History ◽  
Family History Of Diabetes ◽  
First Degree Relatives ◽  
Increased Risk ◽  
History Of

Background: There is steady increase in the prevalence of diabetes mellitus from 0.73% to current 2.4% in rural and 4.0% to 11.6% in urban areas. Familial clustering of diabetes may support a genetic predisposition to diabetes. With increase in the prevalence of diabetes there is increase in number of first degree relative as well, thus an increased risk of developing diabetes, will also increase. To study the plasma glucose levels in First-degree relatives of family member of type 2 diabetic patients was the objective of the present study.Methods: It is a descriptive observational study with 1020 individuals serially coming to our outpatient Department for Pre-employment Medical Health Check Up Annual Health Check Up were selected. These individuals have been enrolled for the study and their family history of diabetes was noted, their sugar levels and their lipid levels were estimated and their body mass index was calculated. The data thus collected and analyzed with excel.Results: 184 (18%) individuals were FDRs, were as 836 (82%) individuals were Non-FDRs. There were 754 (74%) males [131(17%) FDR and 623(83%) Non-FDR], were as 213 (26%) females [53(20%) FDR and 213(80%) Non-FDR], 61(6%) individuals were having Diabetic Mother, 91(9%) individuals had Diabetic Father and 32(3%) were those in whom both the Parents were Diabetic. It was found that maternal history has strong association for getting abnormal BSL levels as compared to a diabetic father as the RR of 9.82 (95% 4.84 to 19.95) in individuals with mother being diabetic, and RR of 1.54(95% 0.68 to 3.87) of father being diabetic.Conclusions: Family history of diabetes, maternal history of diabetes and history of both the parents having diabetes are risk factors for diabetes in FDRs.

Development of a questionnaire to identify persons with a family history of aneurysmal subarachnoid hemorrhage

2022 ◽  
pp. 174749302110690
Author(s):  
Charlotte CM Zuurbier ◽  
Jacoba P Greving ◽  
Gabriel JE Rinkel ◽  
Ynte M Ruigrok
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Family History ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Positive Family History ◽  
Stroke Patients ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Family History Questionnaire ◽  
Affected Relative ◽  
History Of

Background: Preventive screening for intracranial aneurysms is effective in persons with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH), but for many relatives of aSAH patients, it can be difficult to assess whether their relative had an aSAH or another type of stroke. Aim: We aimed to develop a family history questionnaire for people in the population who believe they have a first-degree relative who had a stroke and to assess its accuracy to identify relatives of aSAH patients. Methods: A questionnaire to distinguish between aSAH and other stroke types (ischemic stroke and intracerebral hemorrhage) was developed by a team of clinicians and consumers. The level of agreement between the questionnaire outcome and medical diagnosis was pilot tested in 30 previously admitted aSAH patients. Next, the sensitivity and specificity of the questionnaire were assessed in 91 first-degree relatives (siblings/children) of previously admitted stroke patients. Results: All 30 aSAH patients were identified by the questionnaire in the pilot study; 29 of 30 first-degree relatives of aSAH patients were correctly identified. The questionnaire had a sensitivity of 97% (95% confidence interval (CI) = 83–100%) and a specificity of 93% (95% CI = 84–98%) when tested in the first-degree relatives of stroke patients. Conclusion: Our questionnaire can help persons to discriminate an aSAH from other types of stroke in their affected relative. This family history questionnaire is developed in the Netherlands but could also be used in other countries after validation.

scholarly journals A Dynamic Family History model Of Hereditary Nonpolyposis Colorectal Cancer and Critical Illness Insurance

2007 ◽  
Vol 2 (2) ◽  
pp. 289-325 ◽  
Author(s):  
L. Lu ◽  
A. S. Macdonald ◽  
H. R. Waters ◽  
F. Yu
Keyword(s):  
Colorectal Cancer ◽  
Critical Illness ◽  
Family History ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Familial Aggregation ◽  
Family History Information ◽  
Dna Mismatch ◽  
Genetic Test Results ◽  
Hereditary Nonpolyposis ◽  
History Of

ABSTRACTHereditary nonpolyposis colorectal cancer (HNPCC) is characterised by the familial aggregation of cancer of the colon and rectum (CRC). It may be caused by any of five mutations in DNA mismatch repair (MMR) genes or by non-genetic factors, such as life style. However, it accounts for only about 2% of CRC, which is a very common cancer. Previous actuarial models, of diseases with only genetic causes, assumed that a family history of the disease shows mutations to be present, but this is not true of HNPCC. This is a significant limitation, since the best information available to an underwriter (especially if the use of genetic test results is banned) is likely to be knowledge of a family history of CRC. We present a Markov model of CRC and HNPCC, which includes the presence of a family history of CRC as a state, and estimate its intensities allowing for MMR genotype. Using this we find the MMR mutation probabilities for an insurance applicant with a family history of CRC. Our model greatly simplifies the intensive computational burden of finding such probabilities by integrating over complex models of hidden family structure. We estimate the costs of critical illness insurance given the applicant's genotype or the presence of a family history. We then consider what the cost of adverse selection might be, if insurers are unable to use genetic tests or family history information. We also consider the effect of using alternative definitions of a family history in underwriting.

PSA levels in unaffected first degree relatives of prostate cancer patients are higher than in men without family history of the disease

2002 ◽  
Vol 1 (1) ◽  
pp. 75
Author(s):  
A. Valerie ◽  
L. Cormier ◽  
G. Cancel-Tassin ◽  
M. Giordanella ◽  
M. Kuntz ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Cancer Patients ◽  
First Degree Relatives ◽  
History Of

Family history of cardiovascular disease and cardiovascular comorbidities risk in a pediatric cancer population.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 10518-10518
Author(s):  
Thomas Patrick Curtin ◽  
Wendy Kohlmann ◽  
Luke Devon Maese ◽  
Zhe Yu ◽  
Karen Curtin ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Family History ◽  
Cancer Patients ◽  
Pediatric Cancer ◽  
Pediatric Patients ◽  
Cvd Risk ◽  
First Degree Relatives ◽  
Pediatric Cancers ◽  
Pediatric Cancer Patients ◽  
History Of

10518 Background: Survival rates for childhood cancer patients have improved dramatically, but the growing survivor population suffers from increased treatment-related toxicity including high risk for cardiovascular disease (CVD). While the link between chemotherapy and radiation to cardiotoxicity is well established, few studies seek to determine if an underlying familial risk for cardiovascular disease contributes or predicts this risk. The Utah Population Database (UPDB) is a genealogical resource linked to statewide cancer diagnoses and electronic medical data in which family history is objectively determined. Methods: We calculated the risk of subsequent CVD (ICD-9 401-449) in relatives of 5602 pediatric cancer patients diagnosed at ages 0-19 in Utah from 1966-2013 with no congenital CVD-related anomalies (ICD-9 745-747, 758-759). We identified 964 patients with subsequent CVD diagnoses. Cox models provided recurrence-risk estimates in first-degree relatives of patients compared to relatives of 5:1 matched controls. Results: Pediatric cancer patients were at 5-fold risk of CVD compared to controls ( P< 10-15). In pediatric patients with subsequent CVD, first-degree relatives were at 30% increased CVD risk compared to relatives of cancer-free controls (HR = 1.31, 95%CI 1.16-1.47; P< 10-5). In pediatric patients without CVD, only parents exhibited slight CVD risk (HR = 1.08, 95%CI 1.03-1.14; P= 0.002). In 685,000 individuals with a non-congenital CVD history, pediatric cancers among their first-degree relatives were associated with a similar increased risk of subsequent CVD, compared to pediatric cancers among relatives of controls with no CVD events (HR = 1.39, 95%CI 1.18-1.64, P< 10-4). Conclusions: The UPDB is powerful for investigating comorbidities in cancer patients and their families without recall bias from self-reported family medical history. A family history of CVD may increase risk of CVD-related comorbidities among pediatric cancer patients by 30-40% beyond that observed in patients without a CVD family history. This finding suggests that in addition to a cancer family history, a CVD-related family history should be assessed in children diagnosed with cancer.

Germline mutations in Brazilian pancreatic carcinoma patients.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16749-e16749
Author(s):  
Livia Munhoz Rodrigues ◽  
Simone Maistro ◽  
Maria Lucia Hirata Katayama ◽  
Luiz A.Senna Leite ◽  
Joao Glasberg ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Pancreatic Carcinoma ◽  
Germline Mutations ◽  
Family History Of Cancer ◽  
First Degree Relatives ◽  
Pathogenic Variants ◽  
History Of ◽  
History Of Cancer

e16749 Background: Pancreatic cancer has the prospect of becoming the second leading cause of cancer death by 2030. The NCCN Guidelines recommend genetic testing for all patients with pancreatic cancer, however, the spectrum of germline mutations has not been extensively evaluated because recent studies with genetic testing have explored only a limited number of genes and have focused predominantly on Caucasian populations. Therefore, our objective is to evaluate the frequency and spectrum of germline mutations in unselected patients with pancreatic cancer in a multiethnic population. Methods: Patients from Instituto do Câncer do Estado de São Paulo (Brazil) with histopathological diagnosis of non-endocrine pancreatic carcinoma were included, regardless of the family history of cancer. These patients answered a life habits and family history of cancer questionnaire and supplied blood for the Next Generation Sequencing (MiSeq platform) with the TruSight Hereditary Cancer panel (Illumina), which includes 115 cancer predisposing genes. Variant analysis was performed with the VarStation, a Brazilian tool that offers post-sequencing computational support and aid for clinical interpretation. Results: To the present moment, 77 patients were evaluated. The mean age of the patients was 62 years (27-83), among whom, 13% with young age (≤50 years) and 47 women (61%). Thirty-eight patients (49%) reported cases of cancer in first-degree relatives. Regarding risk factors, 41 patients (53%) reported smoking, 19 (25%) alcohol ingestion and 20 (26%) had obesity. Seven out of 77 patients presented pathogenic variants in ATM (n = 2) , CHEK2, FANCM (n = 2) or PALB2 (n = 2) genes. Two of these patients ( CHEK2 and FANCM) had early onset pancreatic cancer (≤45 years), both denied smoking habit and family history of cancer in 1st degree relatives. Two patients, who were ATM mutation carriers, reported 1st or 2nd degree relatives with cancer and are alive after 4 and 8 years of diagnosis. Conclusions: In this unselected group of pancreatic cancer patients, 15% were young, almost half reported first-degree relatives with cancer and 9% were carriers of pathogenic variants in genes related with the homologous recombination DNA repair.

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