Genetics Research
rs3735273
Population Frequencies12
African
C 0.63909T 0.36091CC 0.412187CT/TC 0.453803TT 0.13401pop=44,310
African American
C 0.63996T 0.36004CC 0.413128CT/TC 0.453673TT 0.133199pop=42,718
African Others
C 0.6156T 0.3844CC 0.386935CT/TC 0.457286TT 0.155779pop=1,592
Asian
C 0.5979T 0.4021CC 0.365938CT/TC 0.463969TT 0.170093pop=9,242
East Asian
C 0.6072T 0.3928CC 0.375746CT/TC 0.462832TT 0.161422pop=7,372
European
C 0.765231T 0.234769CC 0.585311CT/TC 0.35984TT 0.054849pop=239,312
Latin American 1
C 0.752T 0.248CC 0.572032CT/TC 0.359894TT 0.068074pop=3,790
Latin American 2
C 0.8637T 0.1363CC 0.744826CT/TC 0.23777TT 0.017404pop=8,504
Other
C 0.7504T 0.2496CC 0.566103CT/TC 0.368604TT 0.065293pop=8,638
Other Asian
C 0.5615T 0.4385CC 0.327273CT/TC 0.468449TT 0.204278pop=1,870
South Asian
C 0.6598T 0.3402CC 0.439344CT/TC 0.440984TT 0.119672pop=1,220
Studies23
Unread Studies23 ▼
1
Although levodopa and its metabolites in blood have been investigated in parkinsonian disorders for biomarkers, medication effects of levodopa-associated drugs remain unclear. In …
2
The serotonin (5-hydroxytryptamine) system represents a crucial neurotransmitter network that regulates mood, behavior, and cognitive functions, playing a significant role in the pathogenesis and progression of depression. Although this perspective faces significant challenges, the serotonin system continues to exert substantial modulatory effects on specific aspects of psychological functioning and actively contributes to multiple pathological processes in depression development. Therefore, this review systematically integrates …
3
Nicotine is the main compound in cigarettes which leads to smoking addiction. Nicotine acts on the limbic dopamine reward loop in the midbrain through binding to nicotinic …
4
The development of alcohol use disorder (AUD) is influenced by genetic, psychological, and social factors. However, the identification of the load of each of these factors and the …
5
No methods to assess efficacy of levodopa-associated therapy by blood sampling in Parkinson’s disease (PD) have been established. In this study, we investigated levodopa …
6
All protocols were approved by the appropriate committees of the University of California–San Diego, Human Research Protection Program (HRPP), and each subject gave …
7
… Haplotype-based association analysis revealed a protective TGTG haplotype of DDC rs921451-rs3735273-rs1451371-rs2060762, which was significantly associated with nicotine …
8
Achaete‐scute homolog 1 (ASCL1) is a basic helix‐loop‐helix transcription factor and is essential in the differentiation of neuroendocrine cells and neural tissues. ASCL1 is …
9
Sickle cell disease (SCD) is a genetic blood disorder characterized by debilitating episodes of acute pain along with lifelong chronic pain. Pain is not only the major reason for high healthcare costs and poor quality of life but has also been reported as a predictor of mortality among SCD patients. Yet pain management in SCD remains a challenging task owing to the high inter-individual variability in the manifestation of pain. Research in the field of pain genetics, including some of our preliminary work, suggests that pain variability can be explained, to some extent, by genetic factors such as single nucleotide polymorphisms (SNPs). However, comprehensive candidate gene studies and polygenic modeling of the different SCD pain phenotypes are still largely missing. In this dissertation, I investigated the role of numerous SNPs in acute and chronic pain variability in SCD.
10
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy. In the kidney, the enzyme DOPA Decarboxylase (DDC) originating from the circulation. We used a twin/family study design, followed by polymorphism association analysis at DDC locus to elucidate heritable influences on renal DA production. Dense single nucleotide polymorphism (SNP) genotyping across the DDC locus on chromosome 7p12 was analyzed by re-sequencing guided by trait-associated genetic markers to discover the responsible genetic variation. We also characterized kinetics of the expressed DDC mutant enzyme. Systematic polymorphism screening across the 15-Exon DDC locus revealed a single coding variant in Exon-14 that was associated with DA excretion and multiple other renal traits indicating pleiotropy. When expressed and characterized in eukaryotic cells, the 462Gln variant displayed lower Vmax (maximal rate of product formation by an enzyme) (21.3 versus 44.9 nmol/min/mg) and lower Km (substrate concentration at which half-maximal product formation is achieved by an enzyme.)(36.2 versus 46.8 μM) than the wild-type (Arg462) allele. The highly heritable DA excretion trait is substantially influenced by a previously uncharacterized common coding variant (Arg462Gln) at the DDC gene that affects multiple renal tubular and glomerular traits, and predicts accelerated functional decline in chronic kidney disease.
11
(IPA) is considered one specific type of Internet addiction. From substance dependence research, it is well known that addiction can be viewed as a transition from voluntary, …
12
Internet gaming disorder (IGD) has gained recognition as a potential new diagnosis in the fifth revision of the Diagnostic and Statistical Manual of Mental Disorders…
13
The aim of this study was to evaluate and compare the genetic predisposition of Internet gaming disorder (IGD) and alcohol dependence (AD)...
14
Despite heritability estimates of 37–69%, research has identified few genetic risk variants for borderline personality disorder (BPD). The present collaborative candidate gene study of 987 BPD cases and 1110 healthy controls found an association between BPD and single nucleotide polymorphism rs12718541 in the dopa decarboxylase gene...
15
Vitiligo is an acquired pigmentary disorder with several proposed pathogenesis mechanisms and complex multifactorial genetic predisposition. We analyzed 65 polymorphisms in …
16
… rs3735273 was investigated earlier in association with nicotine dependence [29]. In the present investigation, while rs3735273 failed to show significant differences, rs3837091 “AGAG” …
17
… rs3735273 was investigated earlier in association with nicotine dependence [29]. In the present investigation, while rs3735273 failed to show significant differences, rs3837091 “AGAG” …
18
Maternal smoking during pregnancy has been associated with risk of facial clefts in offspring, but causation has not yet been established. It is possible that the effect of maternal smoking on facial clefts is mediated through genes that are involved in nicotine dependence. Gamma-aminobutyric acid B receptor 2 (GABBR2), dopa decarboxylase (DDC), and cholinergic receptor nicotinic alpha 4 (CHRNA4) are three examples of genes that have previously shown strong associations with nicotine dependence. Methods We used a population-based sample of 377 case-parent trios of cleft lip with or without cleft palate (CL/P) and 762 control-parent trios from Norway (1996–2001) to investigate whether variants in GABBR2, DDC and CHRNA4 are associated with maternal first-trimester smoking and with clefting risk. We used HAPLIN (Gjessing et al. 2006), a statistical software tailored for family-based association tests, to perform haplotype-based analyses on 12 SNPs in these genes (rs10985765, rs1435252, rs3780422, rs2779562, and rs3750344 in GABBR2; rs2060762, rs3757472, rs1451371, rs3735273, and rs921451 in DDC; rs4522666 and rs1044393 in CHRNA4). Results When analyzed one at a time, there was little evidence of association between any of the 12 SNPs and maternal first-trimester smoking. In haplotype analyses, however, one copy of the maternal G-G-c-G-c haplotype in DDC was linked with smoking prevalence (odds ratio: 1.5; 95% confidence interval: 1.0–2.1). This same haplotype also increased the risk of isolated CL/P in offspring by 1.5-fold with one copy and 2.4-fold with two copies (Ptrend = 0.06). No statistically significant associations were detected with GABBR2 and CHRNA4. Conclusions Despite strong associations previously reported between nicotine dependence and variants in GABBR2, DDC and CHRNA4, these genes were poor predictors of maternal first-trimester smoking in our data. The direct association of the DDC haplotype with CL/P suggests that this haplotype may either have direct effects on clefts or it may influence clefting risks through other yet unexplored risk behavior(s)...
19
Several studies have provided evidence for associations of polymorphisms located in and near dopamine-related genes and nicotine dependence and other smoking-related phenotypes, including pharmacogenetic interactions... AIM The purpose of the present work was to examine the association of SNPs in the DOPA decarboxylase (DDC), dopamine receptor D2 (DRD2) and dopamine transporter (SLC6A3) genes with smoking cessation in a large retrospective study featuring approximately 900 cessation events. MATERIALS & METHODS Data originated from the enrollment questionnaire of the epidemiological ESTHER study of community-dwelling adults aged 50-74 years, conducted in the German state of Saarland between July 2000 and December 2002. Restricting the analyses to subjects who reported to have regularly smoked > 20 cigarettes per day at some point in their life, we used survival analysis methods to model the time from initiation of regular smoking to cessation (defined as quitting with abstinence lasting until enrollment) and its relation with eight polymorphisms in the aforementioned genes (five in DDC, two in DRD2 and one in SLC6A3) in 1446 participants. RESULTS Neither individual variants nor DDC haplotypes were associated with the probability of overcoming nicotine dependence in this cohort. CONCLUSION The repeated suggestion of associations between the variants examined and nicotine dependence in previous reports seems to contrast the negative results in the present study. This would appear consistent with the hypothesis that the establishment of regular heavy smoking might abolish associations between genetic determinants of nicotine dependence and nicotine dependence-related phenotypes, in particular the probability of successful smoking cessation.
20
Despite almost two decades of intensive tobacco-control efforts, approximately 23% of American adults continue to smoke, and 13% are nicotine-dependent. Cigarette smoking is the greatest preventable cause of cancer, accounting for at least 30% of all cancer deaths and 87% of lung cancer deaths. Smoking behavior is in.uenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that the heritability of liability for nicotine dependence (ND) is at least 50%. During the past several years, signi.cant efforts have been made to identify susceptibility genes for ND using both genome-wide linkage and association analysis approaches. It is expected that identi.cation of susceptibility genes for ND will allow the development and tailoring of both prevention strategies for individuals at risk and effective treatment programs and medicines for individuals who use tobacco products. This review summarizes the recent progress in genetic studies of ND. As genotyping technology is being improved and well-characterized clinical samples on smoking behavior become available, more and more genes and genetic variants responsible for ND will be identi.ed in the near future.
21
DOPA decarboxylase (DDC; also known as L-amino acid decarboxylase; AADC) is involved in the synthesis of dopamine, norepinephrine and serotonin. Because the mesolimbic dopaminergic system is implicated in the reinforcing effects of many drugs, including nicotine, the DDC gene is considered a plausible candidate for involvement in the development of vulnerability to nicotine dependence (ND). Further, this gene is located within the 7p11 region that showed a 'suggestive linkage' to ND in our previous genome-wide scan in the Framingham Heart Study population. In the present study, we tested eight single nucleotide polymorphisms (SNPs) within DDC for association with ND, which was assessed by smoking quantity (SQ), the heaviness of smoking index (HSI) and the Fagerstrom test for ND (FTND) score, in a total of 2037 smokers and non-smokers from 602 nuclear families of African- or European-American (AA or EA, respectively) ancestry. Association analysis for individual SNPs using the PBAT-GEE program indicated that SNP rs921451 was significantly associated with two of the three adjusted ND measures in the EA sample (P=0.01-0.04). Haplotype-based association analysis revealed a protective T-G-T-G haplotype for rs921451-rs3735273-rs1451371-rs2060762 in the AA sample, which was significantly associated with all three adjusted ND measures after correction for multiple testing (min Z=-2.78, P=0.006 for HSI). In contrast, we found a high-risk T-G-T-G haplotype for a different SNP combination in the EA sample, rs921451-rs3735273-rs1451371-rs3757472, which showed a significant association after Bonferroni correction with the SQ and FTND score (max Z=2.73, P=0.005 for FTND). In summary, our findings provide the first evidence for the involvement of DDC in the susceptibility to ND and, further, reveal the racial specificity of its impact.
22
Manali Das a, 1, Aneek Das Bhowmik a, 1, Nipa Bhaduri a, 2, Kanyakumarika Sarkar a, Paramita Ghosh a, Swagata Sinha a, Anirban Ray b, Anindita Chatterjee a, Kanchan …
23
Right-handed non-clinical participants of European descent were recruited from undergraduate participant pools at the University of Queensland, Brisbane, Australia and from the …
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