Familial occurrence of inflammatory bowel disease in Korea

BACKGROUND: Little information is available about the familial aggregation of inflammatory bowel disease (IBD) in Asian populations. We therefore determined the risk of familial aggregation of IBD among first-degree relatives of patients with ulcerative colitis (UC) or Crohn's disease (CD) in an ethnically distinct Korean population. METHODS: Familial aggregation of IBD was evaluated in terms of family history, prevalence, lifetime risk, and population relative risk in first-degree relatives of 1440 unrelated patients with UC (n = 1043) or CD (n = 397). RESULTS: A positive first-degree family history of IBD was observed in 27 probands (1.88%): 21 of 1043 (2.01%) with UC and 6 of 397 (1.51%) with CD. The crude prevalence of IBD in first-degree relatives of probands with IBD was 0.31%. The lifetime risk of IBD was 0.54% in all first-degree relatives of IBD probands, 0.52% in UC probands, and 0.67% in CD probands, with overall lifetime relative risks of 0.12% in parents, 0.79% in siblings, and 1.43% in offspring. The age- and sex-adjusted population relative risk of IBD was 13.8 in first-degree relatives of probands with IBD. CONCLUSIONS: Although a positive family history, prevalence, and lifetime risk of IBD among first-degree relatives of Korean IBD patients are much lower than among relatives of Western patients, the population relative risk in first-degree relatives is about equal in Koreans and Westerners. This finding indicates that a positive family history is an important risk factor for IBD in Koreans and in Westerners.     

Familial aggregation of Reiter's syndrome and ankylosing spondylitis: a comparative study

To determine the nature and prevalence of spondyloarthropathy (SpA) among the 1st degree relatives of probands with either Reiter's syndrome (RS) or ankylosing spondylitis (AS), 599 relatives of 223 consecutive probands (110 RS and 113 AS) were blindly evaluated in a controlled study. Analysis was by questionnaire, radiographic examination without knowledge of proband or relative status and, where relevant, by chart review. No cases of RS were found among the 277 relatives of probands with AS. In contrast, 11 of 322 relatives of probands with RS did have RS which was neither temporally related in onset nor due to a common epidemic source (p less than 0.01). There were 18 cases of AS among the relatives of the probands with AS compared to only 7 cases among the relatives of the patients with RS (p less than 0.05). Two probands with AS each had 2 relatives with AS. Thus, the degree of familial aggregation in RS (11/110; 10%) approaches that seen in AS (16/113; 14%) and the 2 diseases tend to breed true within families. These data suggest that there may be different genetic backgrounds in patients with RS and AS, despite the fact that both conditions are typically associated with HLA-B27.     

The familial aggregation of cannabis use disorders

Aims   The aim of this paper is to examine the familial aggregation of cannabis use disorders and other psychiatric conditions among first-degree relatives and spouses of probands with a cannabis use disorder.
Design   Controlled family study methods.
Setting   Out-patient psychiatric clinics and the local community (same geographic area).
Participants   Two hundred and sixty-two probands with a life-time history of cannabis use disorder, alcohol dependence, anxiety disorders or no history of any disorder, and their first-degree relatives and spouses.
Measurements   Cannabis use disorders and other DSM-III-R disorders in the relatives and spouses using the Schedule for Affective Disorders and Schizophrenia.
Findings   Results reveal an elevated risk of life-time history of cannabis use disorders among siblings [odds ratio (OR: 3.6), adult offspring (OR): 6.9], and spouses (OR: 4.4) of probands with cannabis use disorders. There is a latent familial factor underlying cannabis use disorders that was shared partially with alcohol abuse/dependence. Comorbid mood and anxiety disorders aggregated independently from cannabis use disorders in families. Equal elevation in the magnitude of the association among the first-degree adult relatives and spouses of probands with a cannabis use disorder suggests the probable contribution of both environmental and genetic factors.
Conclusions   These findings support a family-based approach to drug abuse intervention and the importance of future research concerning environmental mediators of familial transmission of drug abuse.     

Study of undifferentiated spondyloarthropathy among first-degree relatives of ankylosing spondylitis probands

OBJECTIVE: To estimate in a Chinese population the prevalence of undifferentiated spondyloarthropathy (USpA) among first-degree relatives (FDRs) of ankylosing spondylitis (AS) probands, and to compare the clinical features of familial USpA with those of sporadic USpA. METHODS: The FDRs of two separate cohorts of consecutive AS probands were evaluated for the prevalence of USpA, using the Modified New York criteria and the European Spondylitis Study Group criteria for AS and SpA, respectively. Sporadic USpA and FDRs of non-SpA rheumatic patient probands served as separate controls. RESULTS: Among the 301 FDRs of 102 AS probands, 7.0% were USpA. This was 1000 times higher than the 147 FDRs of 40 non-SpA probands (P = 0.00230). Within the AS families, USpA was less male-dominated than AS (33.3 vs 72.5%) (P = 0.006). The only feature distinguishing familial from sporadic USpA was that the percentages of HLA B27 were 100 and 50%, respectively (P<0.001). CONCLUSION: USpA and AS coexist in the same Chinese families, both being predisposed by HLA B27. In these families, a female gender favours the development of USpA rather than AS. A significant subset of sporadic USpA (HLA B27-negative group) has a different genetic predisposition compared with familial USpA.     

The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. A comparison of relatives of spondylitis patients with the general population

The present study was performed on 61 HLA-B27 positive first-degree relatives and 40 HLA-B27 negative relatives of 20 HLA-B27 positive probands with ankylosing spondylitis (AS). Of 24 HLA-B27 positive relatives 45 years or older, 21% had AS and 38% sacroiliitis. The HLA-B27 negative relatives did not have features of either disease. In the population study of 2,957 individuals 45 years or older, we found 5 cases of HLA-B27 positive sacroiliitis (according to the New York criteria) and 3 of these fulfilled the New York criteria for diagnosis of AS. In 2 of these 3 individuals, the diagnosis was made on clinical grounds. The phenotype frequency of HLA-B27 in this population is 7.8%, or about 230 HLA-B27 positive individuals in this population sample. Since AS was found in only 3 individuals, 1.3% of the HLA-B27 positive individuals in the population at large have AS; therefore, our data show that among individuals 45 years or older, 21% of HLA-B27 positive relatives of HLA-B27 positive AS patients have AS as compared with 1.3% of the HLA-B27 positive individuals in the population at large. Thus, the risk for AS is 16 times greater in the HLA-B27 positive relatives compared with HLA-B27 positive individuals in the population at large. The discriminatory value of the New York criterion of history of pain or the presence of pain at the dorsolumbar junction or in the lumbar spine was analyzed in the population and family studies and was found to be too nonspecific.     

Family study of fibromyalgia

OBJECTIVE: To assess for familial aggregation of fibromyalgia (FM) and measures of tenderness and pain, and for familial coaggregation of FM and major mood disorder (major depressive disorder or bipolar disorder). METHODS: Probands meeting the American College of Rheumatology criteria for FM and control probands with rheumatoid arthritis (RA) and no lifetime diagnosis of FM were recruited from consecutive referrals to 2 community-based rheumatology practices. Probands were ages 40-55 years and had at least 1 first-degree relative age 18 years or older who was available for interview and examination. All probands and interviewed relatives underwent a dolorimeter tender point examination and a structured clinical interview. Interviewed relatives were asked about first-degree relatives who were not available for interview, using a structured family interview. Logistic and linear regression models, adjusting for the correlation of observation within families, were applied to study the aggregation and coaggregation effects. RESULTS: Information was collected for 533 relatives of 78 probands with FM and 272 relatives of 40 probands with RA. FM aggregated strongly in families: the odds ratio (OR) measuring the odds of FM in a relative of a proband with FM versus the odds of FM in a relative of a proband with RA was 8.5 (95% confidence interval [95% CI] 2.8-26, P = 0.0002). The number of tender points was significantly higher, and the total myalgic score was significantly lower in the relatives of probands with FM compared with the relatives of probands with RA. FM coaggregated significantly with major mood disorder: the OR measuring the odds of major mood disorder in a relative of a proband with FM versus the odds of major mood disorder in a relative of a proband with RA was 1.8 (95% CI 1.1-2.9, P = 0.013). CONCLUSION: FM and reduced pressure pain thresholds aggregate in families, and FM coaggregates with major mood disorder in families. These findings have important clinical and theoretical implications, including the possibility that genetic factors are involved in the etiology of FM and in pain sensitivity. In addition, mood disorders and FM may share some of these inherited factors.     

Prevalence of familial malignancy in a prospectively screened cohort of patients with lymphoproliferative disorders

Increasing evidence points to a heritable contribution in the development of lymphoma. The goal of this study was to determine the rate of familial lymphoproliferative malignancy among consecutive lymphoma patients presenting to a tertiary care center and to enroll families with multiple affected first-degree relatives on a data and tissue collection study. Beginning in 2004 all new patients presenting to the Dana-Farber Cancer Institute with non-Hodgkin (NHL) or Hodgkin lymphoma (HL) or chronic lymphocytic leukaemia (CLL) were asked to complete a one-page self-administered family history questionnaire. 55.4% of 1948 evaluable patients reported a first-degree relative with a malignancy, with the highest rate among CLL probands. Lymphoid malignancies were particularly common, with 9.4% of all probands reporting a first-degree relative with a related lymphoproliferative disorder (LPD). This frequency was again highest for CLL, at 13.3% of CLL probands, compared to 8.8% of NHL probands and 5.9% of HL probands (P = 0.002). The prevalence of CLL was significantly increased in parents of CLL probands (P < 0.05), and a greater risk of NHL was seen in fathers of NHL probands than in mothers (P = 0.026). We conclude that familial aggregation of LPDs is common among newly diagnosed patients, varies significantly by diagnosis and contributes meaningfully to the population disease burden.     

Prevalence of familial hyper- and hypolipoproteinemias: The Princeton School District Family Study

Using the Princeton School Family Study cohort, our specific aim was to estimate the prevalence of suspected familial hyper- and hypolipoproteinemias, and to provide empirical coronary heart disease (CHD) risk estimates for the proportion of probands' first-degree relatives who were similarly affected. Two hundred and seventy two white probands, 125 randomly recalled, 147 from a hyperlipidemic recall group, and their relatives were assessed. Suspected familial hyper- and hypolipoproteinemias were arbitrarily identified in those kindreds having at least 2 first-degree relatives in the same decile as the proband, top or bottom respectively, for low or high density lipoprotein cholesterol (LDLC, HDLC). Of the 125 randomly recalled probands, 3 had suspected familial hypercholesterolemia (FH), the probands and 3 additional first-degree relatives having top decile LDLC. Of 53 top decile LDLC probands from the hyperlipidemic recall group, 6 (11%), and 7 (13%) came from kindreds where the proband and at least 2 and 3 additional first-degree relatives respectively had top decile LDLC; 3 (6%) had tendon xanthomas. In the 16 top decile LDLC probands with at least 2 similarly affected relatives, overt diseases, drugs, and dietary excess did not appear to cause elevated LDLC. Of the 272 kindreds, there was one (random recall) kindred with familial hypobetalipoproteinemia, and there were 4 (2 random recall, 2 hyperlipidemic recall) with familial hyperalphalipoproteinemia. An average of 32% and 22% of the first-degree relatives of top decile LDLC and HDLC probands respectively also had top decile LDLC and HDLC; 27% and 16% of first-degree relatives of bottom decile LDLC and HDLC probands respectively also had bottom decile LDLC and HDLC. Given our current state of knowledge, we cannot yet provide a definitive conclusion regarding the relative and absolute contributions of single genes, multiple genes, environment, and environment: genetic interactions to familial aggregation of hyper- and hypolipoproteinemias. Whatever definition of FH is used, the high prevalence of FH in the Family Study underlines the importance of sampling all first-degree relatives of top decile LDLC probands; clustering of CHD in families may be related in part to familial aggregation of LDLC and/or HDLC.     

The frequency of rheumatoid arthritis among relatives of probands with definite ankylosing spondylitis

We studied families of 23 unrelated HLA-B27 positive probands with definite ankylosing spondylitis to investigate the occurrence of rheumatoid arthritis. The prevalence of RA among these relatives was significant higher (2.91%; 0.02 less than p less than 0.05) than in the control group of 28 healthy individuals (1.02%). These data suggest an increased relative risk of RA in relatives of patients with AS.     

Familial aggregation of juvenile idiopathic arthritis

OBJECTIVE: To estimate the degree of familial aggregation of juvenile idiopathic arthritis (JIA), determine whether the aggregation of JIA and the aggregation of type 1 diabetes mellitus (type 1 DM) overlap, and identify multiplex JIA pedigrees. METHODS: Records of individuals with JIA or type 1 DM were probabilistically linked with records in the Utah Population Database (UPDB), a large computerized family history database. For each case of JIA or type 1 DM, 10 matched controls or 5 matched controls, respectively, were selected. All familial relationships among cases of JIA or type 1 DM were established. A familial risk score was calculated for each subject. For various levels of familial exposure to JIA or type 1 DM, one's risk (odds ratio [OR]) of developing JIA or type 1 DM was established (cases compared with controls). Recurrence risks for JIA were computed for relatives of JIA cases compared with relatives of controls. Extended JIA families were identified from a list of common ancestors. RESULTS: Records of a total of 443 patients were linked with the UPDB. Of these, 381 (86.0%) met criteria for JIA. An increased risk for JIA was observed among relatives of probands with JIA. The prevalence of type 1 DM among JIA cases was higher than the US prevalence of type 1 DM (P < 0.003). The recurrence risk for JIA was significantly elevated among first-degree relatives of cases with JIA (OR 30.4). The overall prevalence of JIA was 28/100,000. Four extended JIA pedigrees were identified. CONCLUSION: There is familial aggregation of JIA in the Intermountain West region of the US. We have demonstrated that multiplex JIA pedigrees can be identified using a genealogic database.     

Risks and relative risks of Wegener's granulomatosis among close relatives of patients with the disease

OBJECTIVE: The etiology of Wegener's granulomatosis (WG) supposedly involves interplay between genetic susceptibility and environmental triggers. However, little is known about whether WG actually clusters in families. Information on the degree of familial aggregation in WG is of clinical relevance, because patients with WG often want to know whether their diagnosis puts their closest relatives at increased risk of the disease. The aim of this study was to investigate the risk of WG in relatives of patients with WG. METHODS: Using Swedish nationwide registers on morbidity, family structure, and vital status, we compared the occurrence of WG (register-based plus chart review) among 6,670 first-degree relatives and 428 spouses of 1,944 Swedish patients with WG with the occurrence among 68,994 first-degree relatives and 4,812 spouses of 19,655 control subjects from the general population. Relative risks were estimated using the Cox proportional hazards regression model. RESULTS: Two of the 6,670 first-degree relatives of patients with WG and 13 of the 68,994 first-degree relatives of their population controls had WG, resulting in a relative risk of 1.56 (95% confidence interval 0.35-6.90). None of the 428 spouses of patients had WG. CONCLUSION: In absolute terms, the occurrence of WG among close biologic and nonbiologic relatives of patients with WG is low. In terms of relative risk, our results provide strong evidence against a pronounced increase in familial risk such as that noted for systemic lupus erythematosus, irritable bowel disease, and multiple sclerosis but are compatible with familial aggregation of a magnitude similar to that for rheumatoid arthritis.     

Comparison of patients by family history with gastric and non-gastric cancer

AIM： To compare the gastric cancer （GC） patients by their family history with gastric and non-GC.
METHODS： Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 patients.
RESULTS： Of the 256 probands, 112 （76 male, 36 female） were incorporated into familial GC （FGC） group： at least two GC members; 144 （98 male, 46 female） were included in the non-FGC group （relatives only affected with non-GCs）. Of 399 tumors in relatives （181 from FGC against 212 from non-FGC）, GC was the most frequent, followed by esophageal, hepatocellular, and colorectal cancer. Nasopharyngeal cancer was next to lung cancer but prior to breast and urogenital cancers. Most affected members aggregated within first-degree relatives （FGC： 66 siblings, 48 fathers, 31 mothers, four offspring; non-FGC： 56 fathers, 55 siblings, 43 mothers, and 15 offspring）. The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a slight risk for GC in males （OR = 1.19, 95% CI： 0.53-2.69）, while risk of GC by maternal history of nonGCs was increased in females （OR = 0.46, 95% CI： 0.22-0.97）. Diffuse-GC was the major histological type in all subgroups. Difference in tumor sites between the two groups was derived from an excess of upper sites in non-FGC female probands.
CONCLUSION： Distribution of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families, and a certain subtype may be inherited in a female-influenced fashion.     

Identification of Barrett's esophagus in relatives by endoscopic screening

AIM: Familial aggregation of Barrett's esophagus and its associated cancers has been termed familial Barrett's esophagus (FBE). The aim of the study was to determine whether endoscopic screening would identify Barrett's esophagus (BE) in relatives of probands with BE or esophageal adenocarcinoma (EAC). METHODS: All living first-degree relatives of patients with long segment BE or EAC presenting to the endoscopy suite of two academic hospitals were sent validated questionnaires inquiring about gastroesophageal reflux symptoms and prior endoscopic evaluation. First-degree relatives of affected probands or affected relatives who reported no prior upper endoscopy were offered screening unsedated esophagoscopy. Relatives with chronic gastroesophageal reflux symptoms were also offered an alternative of conventional sedated upper endoscopy. The yield of screening endoscopy was measured. Screening endoscopy findings were then compared between family members of known FBE patients and those with "isolated" disease. RESULTS: One hundred and ninety-eight relatives from 69 families, 23 known FBE probands and 46 probands with apparently "isolated" disease, were enrolled. Forty relatives (29 FBE relatives and 11 relatives of probands with "isolated" disease) reported prior upper endoscopy. Screening upper endoscopies performed on 62 (25 FBE and 37 "isolated" disease relatives) of the remaining 158 relatives identified Barrett's epithelium in 13 (21%). Compared to probands with apparently "isolated" disease, Barrett's epithelium (EAC, BE, or SSBE) was identified significantly more often in siblings and offspring of FBE probands, p相似文献   

Substance use and other psychiatric disorders in first-degree relatives of opioid-dependent males: a case-controlled study from India

To assess the prevalence of substance use and other psychiatric disorders in first-degree relatives of males with opioid dependence compared to normal controls. DESIGN: Observational, case-control study using family history method. SETTING: A drug addiction treatment centre in northern India. PARTICIPANTS: First-degree relatives of 100 male probands with opioid dependence and no comorbidity (n=493) and those of 50 matched probands from normal population (n=254). Measurement Family interview of probands and family members, using the Family Interview for Genetic Studies. The main outcome measure was relative risk (expressed as odds ratio after controlling for confounding variables using logistic regression) of familial aggregation of psychiatric and substance use disorders. FINDINGS: First-degree relatives of opioid-dependent males were more likely to have a psychiatric disorder than those of normal controls [adjusted odds ratio (OR) 4.47; 95% confidence interval (CI) 1.97-10.11; P<0.001], especially for opioid use disorders in the brothers (adjusted OR 6.55; 95% CI 1.44-29.88; P=0.015) and for alcohol use disorders in the fathers of the probands (adjusted OR 5.64; 95% CI 2.39-13.24; P<0.001). Other disorders (major depression, chronic psychosis and obsessive compulsive disorder) did not have significant aggregation in the first-degree relatives of opioid-dependent subjects. CONCLUSIONS: This study provides further evidence for the higher rates of alcohol and opioid dependence in first-degree relatives of opioid-dependent patients. The exact pattern of this familial aggregation may be influenced by the gender of the relatives and their relation to the proband.     

低密度脂蛋白胆固醇异常在2型糖尿病家系中的家族聚集性及相关因素分析

目的探讨低密度脂蛋白胆固醇(LDL-C)异常在北京地区2型糖尿病(T2DM)家系一级亲属中是否存在遗传倾向以及相关因素。方法收集北京地区具有两个或以上T2DM患者的家系295个,共978例,将每一家系中先证者按LDL-C<2.6 mmol/L和≥2.6 mmol/L分为正常LDL-C组131例和高LDL-C组163例,比较两组患者T2DM和非T2DM一级亲属的LDL-C水平,用多因素逐步回归分析了解其相关因素。结果高LDL-C组的T2DM一级亲属的年龄、空腹血糖(FPG)、糖化血红蛋白(HbA1c)、总胆固醇(TCHO)和LDL-C高于正常LDL-C组(P<0.05)。多因素逐步回归分析显示,T2DM一级亲属的LDL-C与先证者LDL-C、HbA1c及年龄独立相关。高LDL-C组的非T2DM一级亲属的TCHO和LDL-C高于正常LDL-C组(P<0.05)。多因素逐步回归分析显示,非T2DM一级亲属的LDL-C与先证者LDL-C、HbA1c及年龄独立相关。结论在中国北京地区T2DM家系中LDL-C异常存在家族聚集现象,且LDL-C与HbA1c和年龄独立相关。     

Clustering of colorectal cancer in families of probands under 40 years of age

Although sporadic colorectal cancer (CRC) is relatively uncommon in the young, it may constitute an elevated genetic risk for CRC in these individuals. PURPOSE: This study was designed to determine extent of colorectal cancer in families of probands under 40 years of age. METHODS: Medical records of all consecutive patients, 40 years of age or younger at the time of CRC surgery, during the time period 1986 to 1994 were examined. Cases of familial adenomatous polyposis and ulcerative colitis were excluded.Via interviews of surviving probands or nearest relatives, dates of birth and death, causes of death, and diagnosis of cancer were recorded on all first-degree relatives (parents, siblings, and offspring), second-degree relatives (grandparents, aunts, and uncles), and any other relatives. RESULTS: A total of 128 patients, 40 years of age or less at time of CRC resection, were identified. Of these, 45 probands/families were reached by phone, and 45 detailed family histories were obtained. Age range of these 45 probands was 19 to 40 (mean, 33.1) years. In 25 families there was no history of CRC in first-degree, second-degree, or third-degree relatives. Eight of 45 probands (17.8 percent) had at least one first-degree relative with CRC, and three of these eight families fulfilled the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC). In all three families, inheritance of CRC appeared to segregate with the maternal side of the family. In addition, 5 of 43 non-HNPCC probands had at least one first-degree, second-degree, or third-degree relative less than 40 years of age, at time of CRC diagnosis. CONCLUSION: Ascertainment of a detailed family history in early age of onset CRC patients identifies frequent familial clustering of CRC and HNPCC in 17.8 percent of cases.Dr. Guillem is recipient of a Career Development Award from the American Cancer Society and a research grant from The New York District Council of Carpenters Benefits Fund.Poster presentation at the meeting of The American Society of Colon and Rectal Surgeons, Montreal, Quebec, Canada, May 7 to 12, 1995.     

Familial aggregation of coronary heart disease and its relation to known genetic risk factors

The question of how much of the familial aggregation of coronary heart disease is explained by familial clustering of coronary risk factors was approached by a case-control study involving 145 white male survivors of myocardial infarction, 145 age-matched white male blood donors, and the first-degree relatives of both groups. Certain risk factors such as serum cholesterol, triglyceride, and fasting blood glucose levels, blood pressure, and smoking history were determined in patients and control subjects. Relatives were interviewed. If the person was deceased, a copy of the death certificate was obtained. With the exception of high blood pressure, risk factors were significantly more frequent in patients than in control subjects.Among first-degree relatives of survivors of myocardial infarction, 16% had had a myocardial infarction, compared with 8.9% of relatives of control subjects. The frequency of coronary heart disease among first-degree relatives of patients and control subjects was 20.5 and 14.7%, respectively. To find out whether this higher frequency among relatives of patients was fully explained by the existence of known genetic risk factors among survivors of myocardial infarction, 2 approaches were taken. First, statistical analysis that eliminated the role of the various known genetic risk factors (by data stratification according to confounding risk variables and subsequent calculation of a pooled relative risk estimate according to the Mantel-Haenzel method) still indicated an approximately 2-fold (2.14) relative risk for myocardial infarction among families of survivors of myocardial infarction (and a risk of 1.71 for coronary heart disease). Similarly, another approach (Cox's life table regression analysis) confirmed that the classic risk factors could not predict familial occurrence.These results indicate that the familial aggregation of coronary heart disease is not entirely explained by the familial clustering of currently known coronary risk factors. Such familial aggregation could be caused by yet undefined genetic factors, by environmental factors common to family members, or by interaction of genetic factors with environmental agents.     

Dutch patients with familial and sporadic ankylosing spondylitis do not differ in disease phenotype

OBJECTIVE: To assess potential differences in the phenotypic expression between familial and sporadic ankylosing spondylitis (AS). METHODS: Clinical data from the patient record forms were compared between 55 patients with AS from multicase families (i.e., families in which > or = 2 first-degree relatives have the disease) (familial AS) and 110 sex and age matched patients with AS who did not have a first-degree relative with the disease (sporadic AS). RESULTS: Between familial and sporadic AS no differences were found in age at disease onset, age at diagnosis, or prevalences of peripheral arthritis and acute anterior uveitis. CONCLUSION: Potential differences in genetic makeup are not reflected in differences in the phenotypic expression of familial and sporadic AS.     

Familial obesity and leanness

Using the Princeton School District Family Study cohort, our specific aim was to estimate the prevalence of suspected familial ponderosity and leanness, to provide empirical risk estimates for the proportion of probands' first-degree relatives who were similarly affected, and to estimate the contributions of diseases, drugs and caloric intake to relative obesity and leanness. We studied 379 probands, 125 whites and 52 blacks from a random recall group, 147 whites and 55 blacks from a hyperlipidemic recall group. Suspected familial obesity and leanness were arbitrarily identified in those kindreds with at least two first-degree relatives in the same Quetelet index decile as the proband, top or bottom respectively. Suspected familial obesity was observed in 2.4 percent and 6 percent respectively of random and hyperlipidemic recall group whites. Suspected familial leanness was identified in 2.4 percent and 1.4 percent of random and hyperlipidemic recall whites and in 3.8 percent of randomly recalled blacks. Approximately twice as many as expected white first-degree relatives of top Quetelet index decile probands themselves had top decile Quetelet indices; approximately three times as many as expected first-degree relatives of bottom decile Quetelet index probands themselves had bottom decile Quetelet indices. Nineteen percent and 31 percent of top decile Quetelet index white probands from random and hyperlipidemic recall groups came from families where at least two other first-degree relatives were similarly obese; 18 percent and 20 percent of white random and hyperlipidemic recall group probands with bottom decile Quetelet indices had suspected familial leanness. Nearly all subjects with familial obesity or leanness had no overt metabolic or pharmacological explanations for their body habitus. Within-family clustering of hypertension was common in kindreds with suspected familial obesity and was absent in kindreds with suspected familial leanness. Marked within-family clustering of both obesity and leanness is useful diagnostically; therapeutic intervention to reduce obesity, to be most effective, should be family-wide in the many kindreds which share familial obesity.     

A family study of Behcet''s syndrome.

The first-degree family members of patients with Behcet's syndrome were investigated to determine (1) whether there was a familial aggregation of Behcet's syndrome or of its component features, (2) whether there was an increased incidence of sacro-iliitis in these families, and (3) whether a link exists between Behcet's syndrome and spondarthritides in first-degree relatives. Of the 226 relatives and patients seen, 21 patients with definite Behcet's syndrome and their 71 relatives were analysed in some detail. Orogenital ulceration was found in 2 mothers of probands; 1 patient had psoriasis and Behcet's but neither disease featured in the pedigree. Another family showed numerous manifestations of psoriasis and psoriatic arthritis, 1 member having severe sacro-iliitis but the proband had Behcet's syndrome only. Family trees including HLA pedigrees, where known, are presented. Spouses suffered few of the complaints found in patients, and to a less extent in relatives, but showed a high incidence of backache, perhaps of psychogenic origen.