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PubMedDate not supplied

Family resemblance for plasma lipids and lipoprotein concentrations in blacks. Cincinnati Lipid Research Clinic Family Study.

Our specific aim in this study was to assess the family resemblance for lipids and lipoproteins in blacks randomly selected from the Princeton School District's Family Study cohort, and compare the family resemblance of lipids and lipoproteins between the blacks and whites from the same cohort. There were 160 white and 59 black nuclear families ascertained through randomly selected family study probands. Familial correlations were estimated by the method of maximum likelihood. Father-child and sib-sib correlations were of larger magnitude in whites than blacks for each lipid and lipoprotein, with the exception of high density lipoprotein cholesterol, where the correlations in blacks were higher than in whites. Estimates of genetic heritability were larger in whites than in blacks for each lipid and lipoprotein, with the exception of high density lipoprotein cholesterol. Whereas environment has a substantial effect on high density lipoprotein cholesterol levels in both blacks and whites, there may be a greater genetic effect accounting for higher levels of high density lipoprotein cholesterol in blacks. This is highlighted in our current study by the consistent observation in blacks of increased measures of within-family resemblance for high density lipoprotein cholesterol alone, of all lipids and lipoproteins.

Black People↗
PubMed1996

Molecular screening of families affected by familial adenomatous polyposis (FAP).

OBJECTIVES: To assess the risk of developing familial adenomatous polyposis (FAP) in presymptomatic individuals using APC gene flanking and intragenic polymorphic markers. SETTING: Twenty families enrolled in the Italian Registry of Polyposis comprising a total of 217 individuals, including 53 (24%) presymptomatic subjects with a 50% a priori risk of FAP, were analysed. Direct analysis techniques had previously failed to identify the FAP mutation in these families. METHODS: DNA isolated from peripheral mononuclear blood cells and tissue sections was analysed by the polymerase chain reaction and a panel of seven highly polymorphic markers--YN5.64, CB83, CB26, LNS, APC1458.5, MBC, 37AB. Amplification products were separated by a modified denaturing gel electrophoresis method. RESULTS: The haplotype associated with the disease was identified in 18 families (90%). The segregation of the FAP haplotype in these kindreds showed that 10 presymptomatic individuals had inherited the FAP mutation and carried a high risk of developing the disease. The remaining two families were not informative because of the lack of a sufficient number of probands or biological specimens. CONCLUSIONS: These data indicate that indirect analysis with linked DNA markers has a high rate of success in defining the risk of FAP of presymptomatic subjects, provided that a sufficient number of probands or samples is available. Uninformative families accounted for 10% of the total, indicating that linkage analysis may still have higher sensitivity than direct mutation analysis techniques. The combined use of both approaches should be implemented, however, to enhance further the application of molecular genetics to the screening of families with FAP.

Adenomatous Polyposis Coli↗
PubMed1990

Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency.

Five families with familial inherited TSH deficiency, reported to date, were examined for the TSH beta gene at the nucleotide level. The first family carries a single base substitution in the 29th codon which lies in the so-called CAGYC region; GCA (glycine) is replaced by AGA (arginine). This substitution induces conformational changes of the beta-polypeptide which make it unable to associate with the alpha-subunit. This mutation generates a new cleavage site for a restriction endonuclease MaeI, a new marker that can be used for DNA diagnosis. The second and third families were found to carry the same nucleotide substitution. Also, all three families were associated with an additional single base substitution in intron 2 as a polymorphic change, suggesting that these three families may have originated from the same single founder from Shikoku Island in Japan. The nucleotide sequence from the fourth and fifth families showed no alterations in the TSH beta gene from the about -200 basepair up-stream region to the polyadenylation site.

Amino Acid Sequence↗
PubMed1999

Genetic heterogeneity in Italian families with familial hemiplegic migraine.

OBJECTIVE: To verify linkage to chromosome 19p13, to detect mutations in the CACNA1A gene, and to correlate genetic results to their clinical phenotypes in Italian families with familial hemiplegic migraine (FHM). BACKGROUND: FHM is an autosomal dominant disease, classified as a subtype of migraine with aura. Only a proportion of FHM patients have been associated with chromosome 19p13. Among these, four missense mutations within the CACNA1A gene in five unrelated families have been described. METHODS: A linkage study was performed in 19 patients affected by FHM from five families by studying microsatellite markers associated with the 19p13 region. All familial and seven additional sporadic patients with FHM were analyzed to search for mutations within the CACNA1A gene by applying the double gradient-denaturant gradient electrophoresis technique. RESULTS: Lod score values did not establish significantly linkage to chromosome 19. However, seven new genetic variants were detected: six were new polymorphisms. The seventh was a missense mutation present in family 1, and it was associated with a hemiplegic migraine phenotype without unconsciousness and cerebellar ataxia. Because this missense mutation is absent in the general population and cosegregates with the disease, it may be a pathologic mutation. CONCLUSIONS: Genetic heterogeneity of FHM has been shown in familial and sporadic FHM patients of Italian origin. The new missense mutation-G4644T-is associated with milder clinical features compared with typical FHM.

Adolescent↗
PubMed2001

Familial resemblance for free androgens and androgen glucuronides in sedentary black and white individuals: the HERITAGE Family Study. Health, Risk Factors, Exercise Training and Genetics.

Familial correlation analyses were used to evaluate the familial aggregation of plasma androgens and androgen glucuronides (testosterone (TESTO), dihydrotestosterone (DHT), androstane-3 alpha,17 beta-diol glucuronide (3 alpha-DIOL-G), and androsterone glucuronide (ADT-G)) in 505 members of 99 white families and 296 members of 111 black families participating in the Health, Risk Factors, Exercise Training and Genetics (HERITAGE) Family Study. Each of these four measures was determined by RIA after separation of conjugated and unconjugated steroid using C18 column chromatography. All participants were sedentary prior to being including in this study. Significant spouse correlations, as well as parent-offspring and sibling correlations, were found for TESTO, DHT, 3 alpha-DIOL-G, and ADT-G in the white sample, suggesting that common familial environments and genes contribute to the familial resemblance. In the black sample, significant sibling and parent-offspring correlations were found for all four phenotypes, while the spouse correlation was marginally significant for 3 alpha-DIOL-G and not significant for TESTO, DHT, and ADT-G. The non-significance of spouse correlations in the black individuals may be due to the small number of spouse pairs. The maximal heritability estimates of TESTO, DHT, 3 alpha-DIOL-G, and ADT-G were 69%, 87%, 74%, and 56% for white individuals and 70%, 73%, 62%, and 48% for black individuals respectively. Sex differences in heritability estimates were found in the white individuals, but they were less dramatic in the black individuals. In conclusion, plasma levels of androgens and androgen glucuronides are highly heritable in both white individuals and black individuals. There are notable sex differences in the white individuals.

Adolescent↗
PubMed2005

[Treatment of Familial Adenomatous Polyposis and family screening].

BACKGROUND: To reduce the mortality associated to Familial Adenomatous Polyposis (FAP), screening of close relatives of patients with the disease is crucial. AIM: To analyze the results of the surgical treatment of patients with FAP, and to evaluate the family screening. PATIENTS AND METHODS: Clinical records of patients operated in our institution since 1977, were reviewed analyzing surgical and pathological results, and follow up. In their family members, we evaluated and analyzed the performance of screening tests, former surgeries, history of disease-related cancer and mortality, all due to FAP. RESULTS: Between January 1977 and August 2002, 15 patients were operated on. Of these, only 33% consulted on the setting of a familial screening. A proctocolectomy and terminal ileostomy was performed in 27% of patients; 20% had a proctocolectomy and ileal pouch, and 53% underwent a total colectomy with ileo-rectal anastomosis. Morbidity and mortality were 7% and 0%, respectively. Twenty percent had a colorectal cancer. During a median of 68 months follow-up, the disease-related survival was 92%; no cancer of the rectal stump was detected. Of the 122 family members identified, only 33% with clear indication of screening underwent a colonoscopy. Twenty-nine percent had a confirmed FAP and were operated: in 61% of them a colorectal cancer was found, and 91% of these died. CONCLUSIONS: The results of the surgical treatment of FAP are satisfactory. Nevertheless, family screening should be improved to reduce the high rates of mortality revealed in the study of other family members.

Adenomatous Polyposis Coli↗
PubMed1989

Familial colorectal cancer and the screening of family members.

A case-control study was undertaken of the family histories of colorectal cancer in 128 patients with colorectal cancers and those of 61 patients with colorectal adenomas and matched surgical control patients who were attending a regional surgical service in Western Australia. One family with multiple polyposis of the colon was excluded from the study. A history of colorectal cancer in one or more first-degree relatives was associated with a relative risk of colorectal cancer of 2.5 (95% confidence interval, 0.8 to 8.0), of adenoma of 2.0 (95% confidence interval, 0.5 to 8.0) and of any colorectal neoplasm of 2.3 (95% confidence interval, 0.9 to 5.6). Four patients with colorectal cancer and one patient with colorectal adenoma had more than one first-degree relative with colorectal cancer, whereas no control subject gave this history. The five families that were represented by these cases each showed some other features of non-polyposis familial colorectal cancer. It was estimated that familial factors could explain 60% of colorectal cancer in persons with a family history of the disease in a first-degree relative and 5% of colorectal cancer in the population as a whole. Haemoccult II tests were posted to 629 living first-degree relatives of the patients with colorectal cancers and adenomas; 44% of these relatives returned the completed tests. Four relatives with positive results of tests both before and after dietary restriction were investigated; all four subjects had colorectal adenomas. In addition, one subject had a short segment of ulcerative colitis. A further mailing of Haemoccult II tests one year later gave a 39% response rate; no further cases of colorectal neoplasia were found. One relative developed carcinoma of the caecum 10 months after a negative result in the first round of Haemoccult screening. Persons with two or more first-degree relatives with colorectal cancer, with or without other features of non-polyposis familial colorectal cancer, are at a high risk of the development of colorectal cancer. The comparatively-poor response to an offer of Haemoccult II testing and its known insensitivity and lack of specificity suggest that it is not a satisfactory method of screening these high-risk subjects.

Adenoma↗
PubMedDate not supplied

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].

INTRODUCTION: The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinomas, and/or keratoacanthomas), and internal malignancies. Recently, molecular analysis in hereditary non polyposis colorectal cancer demonstrated a common genetic basis, linking these two disorders, with the observation of germline mutations in the hMSH2 gene (one of the DNA mismatch repair system genes) in both syndromes. Such molecular demonstration of a single nosological entity should be clinically used to improve the indications of molecular testings in oncogenetics, still restricted to highly stringent criteria for hereditary non polyposis colorectal cancer. CLINICAL CASES: We identified three patients from two different families, who fulfilled the criteria for both Muir-Torre Syndrome and hereditary non polyposis colorectal cancer. The search of a germline mutation of the hMSH2 gene was performed on an affected member from each family, and their relatives with their informed consent. Within each family, all individuals with colorectal cancer were carriers of the same mutation. In the first family, this mutation was a pathogenic microinsertion, usable for predictive testing. In the second family, a missense mutation was identified, requesting further demonstration of its pathogenicity before its use in a predictive purpose. CONCLUSIONS: The diagnosis of cutaneous tumors compatible with Muir-Torre syndrome should lead the dermatologist to suspect an hereditary non polyposis colorectal cancer that should bring to an oncogenetic approach: personnal and familial history of colorectal cancer, molecular analysis, recommendations for colonoscopic screening in at-risk relatives. In the case of a colorectal cancer at a young age, or in the case of familial cases, the gastroenterologist should screen for cutaneous lesions of Muir-Torre syndrome, which could add a criteria for an hereditary syndrome, and lead to molecular oncogenetic analysis.

Adenoma↗
PubMed2000

Mutagen sensitivity in patients with familial and non-familial urothelial cell carcinoma.

Due to variation in individual susceptibility, only a fraction of all individuals exposed to environmental carcinogens will develop cancer. Our aim was to assess whether mutagen sensitivity plays a role in developing urothelial cell carcinoma (UCC) and whether this sensitivity is different in familial and non-familial cases. Intrinsic susceptibility was quantified by a mutagen sensitivity assay (mean number of chromatid breaks per cell after damage induction with bleomycin in the late S-G2 phase of the cell cycle). Patients were classified as sporadic (n = 25), familial (2 patients in 1 nuclear family, n = 23) or hereditary (2 patients <60 years or 3 patients in 1 nuclear family, n = 13) and compared with control subjects without a history of cancer. Information on demographic factors, smoking history and family history of UCC was collected by postal questionnaires. Differences in mutagen sensitivity were assessed by ANOVA and logistic regression analysis. Overall, UCC patients showed a higher mutagen sensitivity score compared with control subjects [mean number of chromatid breaks per cell 0.91, 95% confidence interval (CI) 0.84-0.97, and 0.74, 95% CI 0.69-0.79, respectively; p = 0.001). Sporadic and familial patients exhibited the highest susceptibility (0.94, 95% CI 0.82-1.06, and 0.93, 95% CI 0.83-1.03, respectively). Hereditary patients (0.79, 95% CI 0.72-0.86) showed a susceptibility similar to controls. Mutagen sensitivity increases the risk of non-hereditary UCC. The relatively low mutagen sensitivity score among hereditary patients points to a different carcinogenic pathway.

Adult↗
PubMed2002

Familial giant cell arteritis and polymyalgia rheumatica: aggregation in 2 families.

The ethnic and geographic prevalence, the familial aggregation, and the reported association with some HLA class II antigens of both giant cell arteritis (GCA) and polymyalgia rheumatica (PMR) strongly suggest the role of genetic factors in the pathogenesis of these diseases. We describe the familial aggregation of GCA and PMR in 2 unrelated families from Northern Italy. In the first family, 2 sisters developed GCA a few months apart. In the second, one sister had GCA, and 2 years later her siblings developed PMR nearly simultaneously. Patients with GCA in the first family shared the whole HLA genotype (A*24,*26, B*38,*55, DRB1*11,*14, DQB1*05,*07, DRB3*). In the second family, both PMR siblings carried the A*68, B*44, DRB1*11, DQB1*07, DRB3* alleles. Thus all patients of both families shared DRB1*11, DQB1*07, and DRB3*. Predisposing immunogenetic factors of both GCA and PMR are discussed.

Aged↗
PubMedDate not supplied

Familial occurrence of oral submucous fibrosis: report of eight families from northern Kerala, south India.

BACKGROUND: Oral submucous fibrosis (OSF) is an archetype of pathological fibrosis due to possibly its presence for centuries amongst people of Indian ethnic extraction. The WHO criteria for a precancerous condition accords well with this disease. The fact that the disease has been reported in at least few subjects who do not practice the habit of areca nut chewing and the inability to prove a dose-effect relationship in almost all cases, the question arose whether there is a predisposition for the disease. METHODS: A house- to-house survey was carried out in northern Kerala, South India, for the detection of early and advanced OSF from June 2003 through May 2004. An analysis of the family pedigrees of all patients with a positive history of fibrosis has been carried out. RESULTS: Preliminary analysis of the family survey revealed that OSF tends to aggregate in families. The pedigrees of eight (8) such families presented here and the concept of OSF having a genetic predisposition to its occurrence revisited. CONCLUSION: The view that OSF having a family predilection, at least in a proportion of cases, and its tendency for familial linkage seems to be apparent by this study. This rather denovo observation of a trend relationship between OSF risk and the number of putative high-risk genotypes should be separately evaluated for the collagen metabolizing and cross-linking pathways. Establishing familial linkage of the disease seems to be an initial step in deciphering further the molecular pathways involved in its causation and biologic progression.

Adult↗
PubMed1992

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.

We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial hyperchylomicronemia. All 10 exons of the LPL gene were amplified from the two probands' genomic DNA by polymerase chain reaction. In family 1 of French descent, direct sequencing of the amplification products revealed that the patient was heterozygous for two missense mutations, Gly188----Glu (in exon 5) and Asp250----Asn (in exon 6). In family 2 of Italian descent, sequencing of multiple amplification products cloned in plasmids indicated that the patient was a compound heterozygote harboring two mutations, Arg243----His and Asp250----Asn, both in exon 6. Studies using polymerase chain reaction, restriction enzyme digestion (the Gly188----Glu mutation disrupts an Ava II site, the Arg243----His mutation, a Hha I site, and the Asp250----Asn mutation, a Taq I site), and allele-specific oligonucleotide hybridization confirmed that the patients were indeed compound heterozygous for the respective mutations. LPL constructs carrying the three mutations were expressed individually in Cos cells. All three mutant LPLs were synthesized and secreted efficiently; one (Asp250----Asn) had minimal (approximately 5%) catalytic activity and the other two were totally inactive. The three mutations occurred in highly conserved regions of the LPL gene. The fact that the newly identified Asp250----Asn mutation produced an almost totally inactive LPL and the location of this residue with respect to the three-dimensional structure of the highly homologous human pancreatic lipase suggest that Asp250 may be involved in a charge interaction with an alpha-helix in the amino terminal region of LPL. The occurrence of this mutation in two unrelated families of different ancestries (French and Italian) indicates either two independent mutational events affecting unrelated individuals or a common shared ancestral allele. Screening for the Asp250----Asn mutation should be included in future genetic epidemiology studies on LPL deficiency and familial combined hyperlipidemia.

Amino Acid Sequence↗
PubMed1992

Prevention of familial cardiovascular disease by screening for family history and lipids in youths.

We analyzed medical family history information from 51,053 families of high school students in Utah and Texas and cholesterol measurements from 853 youths and 1618 adults in Utah families with cardiovascular disease (CVD) to assess the utility of different approaches to risk-factor evaluation for youths. The major question addressed was in which youths should blood cholesterol be tested? Applying National Cholesterol Education Program recommendations suggested that 36% in Utah and 38% in Texas be tested. Heterozygous familial hypercholesterolemia (hFH) is the best documented and most serious cholesterol disorder readily diagnosed in youths. In Utah families ascertained for CVD in adults, blood cholesterol levels among youths were significantly bimodal with hFH present in 84% of youths in the upper cholesterol mode. Blood cholesterol levels in adults from the same families were less bimodal with hFH present in 38% of adults in the upper mode. More overlap existed between high and normal modes in adults than in youths. Data from this study suggest that family histories and cholesterol concentrations obtained from high school students may meet the needs of cholesterol screening, education, and follow-up in a controlled and cost-effective setting.

Adolescent↗
PubMed1991

[Two cases of familial idiopathic basal ganglia calcifications (BCG) with non-symptomatic family members].

We reported two families each propositus of which exhibited extrapyramidal signs and dementia with bilateral basal ganglia calcifications (BGC), while some of the other non-symptomatic family members showed BCG on brain CT by further examinations. Family 1) A 49-year-old woman was normal until her mid 40s when her memory began to fail. At age 40, dementia, finger-tremor and rigidity were observed and with brain CT and Magnetic Resonance Imaging, BCG and dentate calcifications were found. Her two daughters (20 years old and 26 years old) were free of any neuropsychiatric symptoms, but with CT examinations disclosed BCG. Family 2) A 40-year-old man. His symptoms started at 33 years old. He noticed gradually increasing finger-tremor, rigidity and dysarthria. At 40 years he showed mild dementia and BCG on Brain CT. His mother (64 years old) was non-symptomatic but CT showed that she had BCG. In the two families the calcium, phosphorous and parathyroid hormone levels, and Ellsworth-Howard test were normal. Other specific etiology including infections and somatic abnormalities was not discovered. Familial idiopathic basal ganglia calcification was considered to be rare. But the main purpose of this report is to point out that we must pay attention to the possibility of BCG of non-symptomatic family members if one showed dementia and extrapyramidal signs, and BCG on Brain CT in middle age.

Adult↗
PubMed1986

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

Abnormalities in the parathyroid hormone (PTH) gene as a cause of hypoparathyroidism were evaluated by linkage analysis with DNA polymorphisms adjacent to the PTH gene in 8 families in which members were affected with familial isolated hypoparathyroidism (FIH). We found that in none of the 23 affected individuals was there absence of the parathyroid hormone gene or abnormal restriction patterns to suggest recognizable deletions, insertions, or rearrangements. To determine if subtle mutations within the PTH gene were associated with hypoparathyroidism in these families, we used the Pst I and Taq I restriction-site polymorphisms in linkage analysis as markers to differentiate between PTH alleles. In 4 families, affected sibs inherited different PTH gene alleles, implying that hypoparathyroidism was not due to an abnormality in the PTH gene. In 2 other families, linkage analysis was uninformative because of inability to differentiate between PTH alleles. In 2 families, concordance was found between the inheritance of hypoparathyroidism and specific PTH alleles in affected members, suggesting that in these families, hypoparathyroidism may be due to an alteration in or near the PTH structural gene. We conclude that FIH is a diverse group of disorders and is characterized by genetic and molecular heterogeneity. In some forms of FIH the mutation that leads to PTH deficiency does not lie within the region of the structural gene for PTH. Linkage analysis using DNA polymorphisms within the PTH gene is of benefit in identifying individuals with disorders of PTH secretion or synthesis in whom DNA sequencing and expression studies of the PTH gene might succeed in establishing the molecular basis of the disease.

Cloning, Molecular↗
PubMed1987

[Familial intracranial aneurysms--report of 20 cases in eight families and review of the literature].

Twenty cases with 32 cerebral aneurysms in eight families of familial intracranial aneurysms are presented. The present 20 cases, 191 cases in 81 pedigrees in the prior 48 reports and our 692 cases of nonfamilial intracranial aneurysm are analyzed from the view points of sex incidence, age at onset, location of aneurysm, incidence of multiple aneurysms and familial relationship. In addition, the heredity of familial intracranial aneurysm is discussed. The characteristics of our 20 cases are summarized as follows: (1) Mean age of our cases was 53.8 years but it differed from that (41.7 years) of the prior cases. (2) However, five patients (25.0%) were diagnosed at younger age (under 39 years) as in the previous reports. (3) The incidence of multiple cerebral aneurysms was very high (40.0%). (4) Middle cerebral artery aneurysms showed a higher incidence (50.0%). Furthermore, we observed the familial incidence (0.7 - 3.2%) in the total intracranial aneurysms encountered at the same neurosurgical unit, the incidence (39.5%) of cerebral aneurysm among children in parent-children cases and that (44.4%) among siblings in sibling cases of familial intracranial aneurysm. Therefore, we suggested the possibility of incidental aneurysm in the remaining siblings in the cases of familial occurrence.

Adult↗
PubMed1997

Body mass index and family histories in type II diabetic propositi and preliminary observations on the transmission of diabetes in polygamous families.

We studied family histories of diabetes mellitus in the first-degree relatives of 356 type II diabetic propositi in whose families monogamy is practiced. Positive family histories were noted in 32% of the propositi: parental 20%, sibling 14%, and offspring 0.6%. In 11 pedigrees with conjugal diabetic parents, 33% (18/55) of their offspring were diabetic. Paternal influence was significantly higher than maternal influence (43 of 62 vs. 19 of 62, Z = 2.86, p < 0.01). The presence or absence of sibling history did not depend on the body mass index in the propositi. We also studied pedigrees of 10 propositi in whose paternal families polygamy is practiced. In these families also a trend toward greater paternal influence was noted. We conclude that (1) a family history of diabetes is present in one-third of diabetic propositi, (2) paternal influence is stronger than maternal influence in the transmission of diabetes, (3) sibling history for diabetes has no relation to the body mass index of the propositi, (4) prevalence of diabetes is higher in the offspring of conjugal diabetic parents, and (5) studies in polygamous families are a new approach that may help to quantify the genetic load transmitted from a parent when there is heterogeneity in the spouses.

Adult↗
PubMedDate not supplied

Familial Crohn's disease: a study of 18 families.

UNLABELLED: The high frequency of familial Crohn's disease (CD) suggests a genetic predisposition. The most recent data from epidemiology and molecular biology are consistent with a multifactorial, polygenic inheritance with a possible genetic heterogeneity. The aim of our study was, first to compare familial and sporadic CD on the basis of the type and location of the disease, and age at diagnosis, and second, to evaluate among families, the concordance rate for the type and location of the disease. PATIENTS AND METHODS: 18 families with 2 (n = 16) and 3 (n = 2) affected first degree relatives were studied. They were compared to a population of 154 sporadic CD coming from the same gastroenterology unit. RESULTS: Age at diagnosis was the same in sporadic and familial CD. There was an increased frequency of ileal (p = 0.02), and fibro stenotic (p = 0.005) CD and a decreased frequency of colonic (p = 0.006) and inflammatory (p = 0.02) disease, in familial CD. There was a significant increase in concordance rate for fibrostenotic disease (p < 0.001) and a decrease for inflammatory disease (p < 0.01), among the families. The observed concordance rate for the location of the disease was not significantly different from the expected one. In conclusion, these data suggest that CD may be heterogenous and that different clinical patterns may be determined either by genetic or environmental factors.

Adult↗