The population genetics of familial mediterranean fever: a meta-analysis study.

abstract：:As knowledge of the human genome continues to grow, more progress is being made towards not only identifying the genes involved in disease susceptibility but also in defining the synergistic role genes play with environmental exposures. The detection of gene-environment interactions is important as it can offer clinic...

journal_title：Annals of human genetics

authors： Lake SL,Laird NM

更新日期：2004-01-01 00:00:00

abstract：:Non-random inheritance of the two parental haplotypes among siblings affected by certain diseases has long been used to provide evidence of the presence of disease susceptibility genes. The distribution of a powerful test, called Q, based on haplotype concordance and discordance, is derived under the null hypothesis o...

journal_title：Annals of human genetics

authors： Shah S,Green JR

更新日期：1994-05-01 00:00:00

abstract：:A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

journal_title：Annals of human genetics

authors： Nikolova M

更新日期：1996-11-01 00:00:00

abstract：:Variants in the UGT1A1 gene and its promoter are known to determine levels of unconjugated bilirubin (UCB), but do not explain all cases of unconjugated hyperbilirubinemia. To discover associations with variants in genes other than UGT1A1, we undertook a genome-wide association study. We recruited 200 participants to ...

journal_title：Annals of human genetics

authors： Datta S,Chowdhury A,Ghosh M,Das K,Jha P,Colah R,Mukerji M,Majumder PP

更新日期：2012-01-01 00:00:00

abstract：:The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...

journal_title：Annals of human genetics

authors： Heidari E,Razmara E,Hosseinpour S,Tavasoli AR,Garshasbi M

更新日期：2020-07-01 00:00:00

abstract：:Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

journal_title：Annals of human genetics

authors： Li F,Yuan W,Wu X

更新日期：2018-11-01 00:00:00

abstract：:We described a new genetic polymorphism of human platelet polypeptide, detected by two-dimensional polyacrylamide gel electrophoresis followed by silver-staining. The polymorphism was tentatively designated thrombocyte B (ThB) with a molecular weight of 34 kDa and isoelectric point of 4.7-4.8. In this polypeptide, thr...

journal_title：Annals of human genetics

authors： Kajii E,Iwamoto S,Omi T,Ikemoto S

更新日期：1991-05-01 00:00:00

abstract：:A simple selection model (fitness 1, w, w2 for AA, Aa, aa) is employed to change the gene frequency of one population to another. The genetic distance is then defined as d = -log w between the two populations. The distance is symmetrical with respect to the two populations. It is additive: d13 = d12 + d23. The samplin...

journal_title：Annals of human genetics

authors： Li CC

更新日期：1978-05-01 00:00:00

abstract：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00

abstract：:This study traces the evolutionary pathways of the apolipoprotein B gene in the low risk Chinese and high risk Asian Indians in relation to coronary artery disease (CAD). Haplotypes were constructed from six apoB polymorphisms sp24/27, Ag(c/g), Ag(a1/d), XbaI, Ag(h/i) and, Ag(t/z). These were genotyped from 474 Chines...

journal_title：Annals of human genetics

authors： Heng CK,Saha N,Low PS

更新日期：1999-01-01 00:00:00

abstract：:This paper reconsiders the relevant contribution of Sasieni in the validity of allele-based tests in case-control genetic association studies. In particular, the author clearly demonstrates that the classical chi-square test applied to allelic contingency tables is biased when the combined case-control population is n...

journal_title：Annals of human genetics

authors： Guedj M,Nuel G,Prum B

更新日期：2008-05-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 00:00:00

abstract：:Interaction between genetic variants is hypothesized to be one of several putative explanations for the 'case of missing heritability.' Therefore, Genome-Wide Interaction Analysis (GWIA) has recently gained substantial interest. GWIA is computationally challenging and respective power type I error studies are particul...

journal_title：Annals of human genetics

authors： Becker T,Herold C,Meesters C,Mattheisen M,Baur MP

更新日期：2011-01-01 00:00:00

abstract：:The segregation of human phosphoglycolate phosphatase has been studied in 52 independent human-rodent hybrids and 69 subclones. The results suggest that human PGP is on chromosome 16. Family data suggest that PGP is not close to 16qh or alpha Hp. The most likely regional assignment for PGP would appear to be 16p13 or ...

journal_title：Annals of human genetics

authors： Povey S,Jeremiah SJ,Barker RF,Hopkinson DA,Robson EB,Cook PJ,Solomon E,Bobrow M,Carritt B,Buckton KE

更新日期：1980-01-01 00:00:00

abstract：:It is show that Wright's F-statistics can be defined as ratios of gene diversities of heterozygosities rather than as the correlations of uniting gametes. This definition is applicable irrespective of the number of alleles involved or whether there is selection or not. The relationship between F-statistics and Nei's g...

journal_title：Annals of human genetics

authors： Nei M

更新日期：1977-10-01 00:00:00

abstract：:We have studied the impact of natural selection through stillbirth on the Italian population, taking into account the socio-economic heterogeneity of the country. The results suggest that older age at delivery and lower cultural level of the mothers, indicators of critical biological and socio-economic conditions, eve...

journal_title：Annals of human genetics

authors： Zonta LA,Astolfi P,Ulizzi L

更新日期：1997-03-01 00:00:00

abstract：:Appetite regulatory neural network and adipocyte homeostasis molecular pathways are critical to long-term weight maintenance. Associations between obesity-related phenotypes and four genes in these pathways - leptin (LEP), leptin receptor (LEPR), neuropeptide Y2 receptor (NPY2R) and peptide YY (PYY) were examined in C...

journal_title：Annals of human genetics

authors： Friedlander Y,Li G,Fornage M,Williams OD,Lewis CE,Schreiner P,Pletcher MJ,Enquobahrie D,Williams M,Siscovick DS

更新日期：2010-09-01 00:00:00

abstract：:A chromosomal locus for late-onset Alzheimer disease (LOAD) has previously been mapped to 9p21.3. The most significant results were reported in a sample of autopsy-confirmed families. Linkage to this locus has been independently confirmed in AD families from a consanguineous Israeli-Arab community. In the present stud...

journal_title：Annals of human genetics

authors： Züchner S,Gilbert JR,Martin ER,Leon-Guerrero CR,Xu PT,Browning C,Bronson PG,Whitehead P,Schmechel DE,Haines JL,Pericak-Vance MA

更新日期：2008-11-01 00:00:00

abstract：:The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...

journal_title：Annals of human genetics

authors： Wilson DE,Povey S,Harris H

更新日期：1976-01-01 00:00:00

abstract：:Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not ...

journal_title：Annals of human genetics

authors： Edwards TL,Scott WK,Almonte C,Burt A,Powell EH,Beecham GW,Wang L,Züchner S,Konidari I,Wang G,Singer C,Nahab F,Scott B,Stajich JM,Pericak-Vance M,Haines J,Vance JM,Martin ER

更新日期：2010-03-01 00:00:00

abstract：:Allelic transmission rates from parents to cases are frequently stratified by an environmental risk factor E and compared, with heterogeneity interpreted as gene-environment interaction or GxE. Though generally invalid, such analyses continue to appear. We revisit why heterogeneity is not equivalent to GxE in a range ...

journal_title：Annals of human genetics

authors： Shin JH,McNeney B,Graham J

更新日期：2010-09-01 00:00:00

abstract：:Since 1967 a syndrome characterized by renal disease, normochromic anaemia and corneal opacities has been described in 7 members of 3 different Norweigan families. The patients have low levels of esterified cholesterol and lack LCAT (lecithin: cholesterol acyltransferase) activity in plasma. The genetic basis of the d...

journal_title：Annals of human genetics

authors： Teisberg P,Gjone E,Olaisen B

更新日期：1975-01-01 00:00:00

abstract：:Using genetic data from an obesity candidate gene study of self-reported African Americans and European Americans, we investigated the number of Ancestry Informative Markers (AIMs) and candidate gene SNPs necessary to infer continental ancestry. Proportions of African and European ancestry were assessed with STRUCTURE...

journal_title：Annals of human genetics

authors： Kodaman N,Aldrich MC,Smith JR,Signorello LB,Bradley K,Breyer J,Cohen SS,Long J,Cai Q,Giles J,Bush WS,Blot WJ,Matthews CE,Williams SM

更新日期：2013-01-01 00:00:00

abstract：:Determination of activity and electrophoretic mobility of GALT in patients with various chromosome 9 deletions and duplications confirms the assignment of its locus to 9p and suggests its locus is in the segment 9cen leads to p22. Two inversions of 9qh (inv(9)(p11q12)) did not alter GALT expression. ...

journal_title：Annals of human genetics

authors： Sparkes RS,Sparkes MC,Funderburk SJ,Moedjono S

更新日期：1980-05-01 00:00:00

abstract：:Testing multiple markers simultaneously not only can capture the linkage disequilibrium patterns but also can decrease the number of tests and thus alleviate the multiple-testing penalty. If a gene is associated with a phenotype, subjects with similar genotypes in this gene should also have similar phenotypes. Based o...

journal_title：Annals of human genetics

authors： Lin WY,Tiwari HK,Gao G,Zhang K,Arcaroli JJ,Abraham E,Liu N

更新日期：2012-05-01 00:00:00

abstract：:Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal St...

journal_title：Annals of human genetics

authors： Lange LA,Graff M,Lange EM,Young KL,Richardson AS,Mohlke KL,North KE,Harris KM,Gordon-Larsen P

更新日期：2016-09-01 00:00:00

abstract：:Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, deve...

journal_title：Annals of human genetics

authors： Lee JY,Cho YH,Hallford G

更新日期：2011-11-01 00:00:00

abstract：:Atypical hemolytic uremic syndrome (aHUS) is caused by several susceptibility genes. A registry including analyses of susceptibility genes, familial occurrence and genotype-phenotype correlation should provide classification insights. Registry data of 187 unrelated index patients included age at onset, gender, family ...

journal_title：Annals of human genetics

authors： Sullivan M,Erlic Z,Hoffmann MM,Arbeiter K,Patzer L,Budde K,Hoppe B,Zeier M,Lhotta K,Rybicki LA,Bock A,Berisha G,Neumann HP

更新日期：2010-01-01 00:00:00

abstract：:Q-banded chromosome 1 bivalents from six human males were measured in order to determine the locations of the major band borders. Chiasma position was also recorded in these bivalents in order to determine whether chiasmata preferentially occurred in Q-bright regions, Q-dark regions or in the interfaces between. The r...

journal_title：Annals of human genetics

authors： Laurie DA,Hultén MA,Palmer RW

更新日期：1985-05-01 00:00:00

abstract：:A theory is given for complex phenotypes represented by an ordered polychotomy separately for affected (as severity) and for normals (as diathesis), with consideration of history, ascertainment, sampling frames, and phenotype systems. Nonrandom selection of probands by severity is permitted. Both probit and logistic m...

journal_title：Annals of human genetics

authors： Morton NE,Shields DC,Collins A

更新日期：1991-10-01 00:00:00