Substance use disorders (SUDs) are moderately to highly heritable and are in part cross-transmitted genetically, as observed in twin and family studies. We performed exome-focused genotyping to examine the cross-transmission of four SUDs: alcohol use disorder (AUD, n = 4487); nicotine use disorder (NUD, n = 4394); cannabis use disorder (CUD, n = 954); and nonmedical prescription opioid use disorder (NMPOUD, n = 346) within a large nationally representative sample (n = 36,309), the National Epidemiologic Survey on Alcohol and Related Conditions-III (NESARC-III). All diagnoses were based on in-person structured psychiatric interview (AUDADIS-5).
View Article and Find Full Text PDFObjective: To determine the butyrylcholinesterase (BChE) activity and phenotypes in preeclampsia and its possible association with lipid and lipoprotein metabolism and oxidative stress in preeclamptic women.
Methods: In a case-control study, 101 pregnant women with normal pregnancy and 198 women with preeclampsia from Western Iran were studied. The serum BChE activity and phenotypes were measured using spectrophotometric method.
Background: The present study was conducted to investigate the possible outcome of interaction between endothelial nitric oxide (NOS3) G894T and cholesteryl ester transfer TaqIB variants on the risk of coronary artery disease (CAD) and type 2 diabetes mellitus (T2DM). The sample included a total of 207 CAD patients (102 CAD patients with T2DM and 105 CAD patients without T2DM). There were also 101 patients with T2DM and 92 age- and sex-matched healthy individuals as controls.
View Article and Find Full Text PDFObjectives: We aimed to investigate the association between methylenetetrahydrofolate reductase (MTHFR) C677T and endothelial nitric oxide synthase (eNOS) G894T polymorphisms with lipid peroxidation, total antioxidant capacity (TAC) and the risk of preeclampsia in preeclamptic women.
Design And Methods: We screened a sample of 198 unrelated women with mild and severe forms of preeclampsia and 101 unrelated women with normal pregnancy with the eNOS and MTHFR variants using PCR-RFLP method. Also, the serum malondialdehyde (MDA) and TAC levels were determined using HPLC and commercial kits, respectively.
Background: The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) insertion/deletion (I/D) and angiotensin II type-1 receptor (AT1R) A1166C polymorphisms with the risk of preeclampsia and lipid peroxidation in preeclamptic women from Western Iran.
Methods: One hundred and ninety-eight preeclamptic women (128 women with mild and 70 with severe forms) and 100 age- and parity-matched controls were enrolled in this case-control study.
Results: The presence of D allele of ACE was associated with a 1.
J Thromb Thrombolysis
January 2012
The aim of the present study was to investigate the frequency and the possible association between thrombophilic mutations of factor V Leiden (FVL) and prothrombin G20210A with preeclampsia among Kurdish population of Western Iran. We studied 198 women with preeclampsia including 128 women with mild and 70 women with severe forms and 101 healthy pregnant women with uncomplicated pregnancy. Among cases there were 23 women with early onset preeclampsia and 175 cases with late-onset preeclampsia.
View Article and Find Full Text PDFAim: The present study investigated the influence of insertion (I)/deletion (D) polymorphism of the angiotensin II-converting enzyme (ACE) gene in combination with endothelial nitric oxide (eNOS) G894T polymorphism on the predisposition to diabetic nephropathy (DN).
Methods: Using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) method, the ACE and eNOS polymorphisms were genotyped in 72 microalbuminuric, 68 macroalbuminuric and 72 normoalbuinuric type 2 diabetes mellitus (T2DM) patients from Western Iran.
Results: The presence of eNOS T or ACE D allele was not associated with increased risk of macroalbuminuria (odds ratio (OR) = 1.
Aims: Polymorphism in genes involved in folate metabolism may influence the susceptibility to acute lymphoblastic leukemia (ALL). The aim of the present study was to determine the role of the two most common polymorphisms of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene, MTHFR C677T and A1298C, and their interaction on the susceptibility to ALL.
Methods: Seventy-two children with ALL and 109 age- and sex-matched healthy children from Western Iran were screened for MTHFR C677T and A1298C variants by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Hemoglobin S in homozygous state or in combination with one of the structural variants of Hb D-Punjab, Hb O-Arab, Hb C or β-thalassemia mutation results in sickle cell disease (SCD) that is characterized by chronic hemolytic anemia and tissue injury secondary to vasooclusion. A chronic hypercoagulable state in SCD has been established with the increased risk of thromboembolic complications in these patients. The goal of present review is to survey of the literature related to thromboembolic events and genetic risk factors involved in the manifestation of these events in SCD patients with focus on studies from Mediterranean countries.
View Article and Find Full Text PDFAims: To shed light on the previously inconsistent results about the association of cholesteryl ester transfer protein TaqIB (CETP TaqIB) variants, high-density lipoprotein cholesterol (HDL-C) levels, and the risk of coronary artery disease (CAD) and type 2 diabetes mellitus (T2DM).
Methods: To determine the frequency of CETP TaqIB variants and to examine the possible association between CETP TaqIB polymorphism with CAD and T2DM, we studied 207 unrelated patients with CAD, 101 patients with T2DM, and 92 controls. The CETP TaqIB variants were detected by polymerase chain reaction-restriction fragment length polymorphism.
In order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and methionine synthase (MS A2756G) genes on the susceptibility to acute lymphoblastic leukemia (ALL), 73 children with ALL and 128 age and sex matched unrelated healthy individuals from the Kermanshah Province of Iran were screened. The genotyping of TS 28-bp repeat and MS A2756G polymorphisms were performed by polymerase chain reaction (PCR) and PCR-RFLP, respectively. The frequency of TS 2R allele in patients and controls were 41.
View Article and Find Full Text PDFTo determine the plasma lipid and lipoprotein profiles and their possible association with the type of β-thalassemia mutation we studied 103 major β-thalassemia patients including 71 children and 32 young adults compared to 102 healthy subjects consisted of 90 children and 12 young healthy adults. The plasma lipid and lipoprotein levels were measured by conventional methods. Considering all of the patients the levels of total cholesterol (TC), LDL-cholesterol (LDL-C), and HDL-cholesterol (HDL-C) were significantly lower compared to controls.
View Article and Find Full Text PDFThe aim of present study was to investigate the prevalence of factor V Leiden (FVL) c.1691G>A, prothrombin g.20210G>A and methylenetetrahydrofolate reductase (MTHFR) c.
View Article and Find Full Text PDFBeta Thalassemia has been reported to be a common genetic disorder in Iran. To establish the molecular spectrum of the beta thalassemias in the Kermanshah Province of Iran, 185 unrelated beta thalassemia patients with Kurdish ethnic background were studied (181 beta-thalassemia major and 4 beta-thalassemia intermedia). Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct genomic sequencing twenty different mutations were identified accounting for 98.
View Article and Find Full Text PDFThere are controversial results related to the contribution of factor V Leiden G1691A, prothrombin gene G20210A and methylentetrahydrofolate reductase (MTHFR) C677T mutations in the development of coronary artery disease (CAD) and their association with diabetes. To assess the distribution of these thrombophilic mutations in CAD patients with and without type 2 diabetes mellitus (T2DM), we studied 117 CAD patients [65 CAD patients with diabetes (CAD/T2DM) and 52 CAD patients without diabetes (CAD/ND)] and 59 age-matched and sex-matched healthy individuals without CAD from population of western Iran. Genotyping was done by polymerase chain reaction (PCR)-restriction fragment length polymorphism using Mnl I, Hind III and Hinf I for factor V Leiden, prothrombin G20210A and MTHFR C677T, respectively.
View Article and Find Full Text PDFBeta-thalassemia (beta-thal) is the most common single gene disorder in Iran. To determine the chromosomal background of beta thalassemia mutations in Western Iran we studied beta-globin gene cluster haplotypes in 314 beta-thal and 70 beta(A) chromosomes with a Kurd ethnic background from the province of Kermanshah, Iran using PCR-RFLP. beta-thal mutations were analyzed using PCR-ARMS, RFLP and direct genomic sequencing.
View Article and Find Full Text PDFMutation within the leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a cause of autosomal dominant Parkinson's disease (PD). The purpose of this study was to determine the frequency of G2019S mutation and whether the differences in the allele and genotype distribution of six SNPs within LRRK2 gene are associated with PD in an American non-Hispanic white population. The sample included 350 sporadic PD (SPD), 225 familial PD (FPD) patients and 186 controls of the same race and ethnicity.
View Article and Find Full Text PDFObjective: The main objective of this study was a more detailed genetic characterization of the alcohol preferring fawn-hooded rat and its intercrosses. Fawn-hooded rats drink substantially more alcohol voluntarily than the ACI rats. The fawn-hooded rats were shown to be more immobile in the forced-swimming test and to drink more saccharin.
View Article and Find Full Text PDFEthanol associated addictive behaviors are governed by a combination of multiple gene action (polygenic or quantitative trait) and environmental factors. We produced F2 progeny from F1 crosses derived from the alcohol-preferring Fawn-Hooded (FH/Wjd) rat strain and the alcohol-nonpreferring ACI/N strain. We compared different phenotypes related to alcohol intake in more than 600 F2 progeny.
View Article and Find Full Text PDFThis review will consider the evidence supporting the view that a specific substrain of Fawn-Hooded rat (FH/Wjd) exhibits co-occurring depressive-like behavior and high alcohol intake independently. First, the FH/Wjd rat is compared with other Fawn-Hooded substrains (FH/Har, FHH/Eur, FHL/Eur) and it is concluded that only the FH/Wjd rat is both highly immobile in the forced swim test and drinks substantial amounts of 5-10% alcohol voluntarily. Next it is demonstrated that the FH/Wjd rat fulfils many of the criteria proposed for an animal model of alcoholism (becomes tolerant, becomes dependent and expresses withdrawal symptoms, bar-presses for alcohol).
View Article and Find Full Text PDFContext: Identification and replication of susceptibility genes for Parkinson disease at the population level have been hampered by small studies with potential biases. Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, but large-scale studies have been lacking.
Objective: To determine whether allele-length variability in the dinucleotide repeat sequence (REP1) of the SNCA gene promoter is associated with Parkinson disease susceptibility, whether SNCA promoter haplotypes are associated with Parkinson disease, and whether REP1 variability modifies age at onset.
Background: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD).
Objective: To evaluate the influence of heterozygosity for parkin mutation on onset age in a sample of families with at least 2 PD-affected members.
Design: Clinical and genetic study.
Parkinsonism Relat Disord
September 2005
Mutations in the parkin gene are a common cause of autosomal recessive juvenile parkinsonism (AR-JP) but their role in idiopathic Parkinson's disease (PD) is not clear. Recent studies demonstrate that most young onset PD without family history is not due to mutations in parkin. However, there is less information about the role of this gene in older onset PD.
View Article and Find Full Text PDFGenes coding for nerve growth factors involved in dopamine receptor and cellular regulation such as brain-derived neurotrophic factor (BDNF) are logical candidate genes for susceptibility to Parkinson's disease (PD). To determine the role of the BDNF gene in the development of familial and sporadic PD, we sequenced the promoter region of the gene using genomic DNA from patients with familial PD. Two single nucleotide polymorphisms (SNPs) at positions C-1331T and C270T were identified.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
August 2003
A number of studies have reported a possible association between serotonergic pathway genes and alcoholism. A silent polymorphism (G to C substitution) in the gene encoding the autoreceptor 5-HT1B was linked to antisocial alcoholism in Finnish and an American Indian populations [Lappalainen et al., 1998: Arch Gen Psychiatry 55:989-994].
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