CHROMOSOME 3 ADCY5 3q21.1 GENE VIEW ADCY5 · 3q21.1 3q20 3q22 rs2877716 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2877716 T / A · ADCY5 · 3q21.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2877716

Gene: ADCY5 — Adenylate Cyclase 5 Chr 3:123375604 3q21.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.238836C 0.761164TT 0.059348TC/CT 0.358975CC 0.581677pop=743,344
African T 0.25145C 0.74855TT 0.062065TC/CT 0.378777CC 0.559158pop=66,382
African American T 0.25142C 0.74858TT 0.061911TC/CT 0.37902CC 0.55907pop=64,060
African Others T 0.2524C 0.7476TT 0.066322TC/CT 0.372093CC 0.561585pop=2,322
Asian T 0.00542C 0.99458TT 0.000278TC/CT 0.010289CC 0.989433pop=14,384
East Asian T 0.00119C 0.99881TT 0TC/CT 0.002378CC 0.997622pop=10,934
European T 0.241733C 0.758267TT 0.059379TC/CT 0.364707CC 0.575914pop=593,606
Latin American 1 T 0.2309C 0.7691TT 0.050628TC/CT 0.360568CC 0.588804pop=9,718
Latin American 2 T 0.31435C 0.68565TT 0.101714TC/CT 0.425281CC 0.473005pop=21,708
Other T 0.21249C 0.78751TT 0.052507TC/CT 0.319976CC 0.627517pop=29,596
Other Asian T 0.0188C 0.9812TT 0.001159TC/CT 0.035362CC 0.963478pop=3,450
South Asian T 0.241C 0.759TT 0.061635TC/CT 0.358742CC 0.579623pop=7,950

Studies64

Unread Studies64
1
… Out of the five variants that showed association with LDL, rs2877716 and rs11708067 exhibited collinearity and hence excluded rs11708067. Four variants, ie, rs646776, …
2
… We have shown increased daily insulin requirements in women with ADCY5 gene rs11708067 AG and rs2877716 genotype CT genotypes, higher APGAR scores in newborns from …
3
Genome-wide association studies have shown an increased risk of type-2-diabetes (T2DM) in patients who carry single nucleotide polymorphisms in several genes. We …
4
Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from …
5
… SNP rs9883204 is in perfect LD with rs2877716 in many populations such as CHB, Utah residents of northern and western European ancestry from the CEPH collection (CEU) (r 2 = 1) (…
6
Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from …
7
Type 2 diabetes (T2D) is a chronic disorder and caused by both environmental and genetic factors. GWAS have identified >150 SNPs associated with T2D. In this review, susceptibility …
8
Early-phase insulin secretion is a determinant of postprandial glucose homeostasis. In this study, we aimed to identify novel genetic variants associated with the early-phase insulin …
9
… Overexpression in mice results in a cardiomyopathy whereas disruption confers protection.33, 34 Single-nucleotide polymorphisms (rs11708067, rs2877716) are associated with an …
10
10.7554/eLife.31977.001 Human genetic studies have emphasised the dominant contribution of pancreatic islet dysfunction to development of Type 2 Diabetes (T2D). However, limited …
11
Diabetes can be considered as a spectrum with type 1 diabetes mellitus (T2DM) and type 2 diabetes mellitus (T2DM) as two ends of the spectrum, and maturity‐onset diabetes of the …
12
Glycaemic traits such as fasting and post-challenge glucose and insulin measures, as well as glycated haemoglobin (HbA1c), are used to diagnose and monitor diabetes. These traits …
13
Shared genetic aetiology may explain the co-occurrence of diseases in individuals more often than expected by chance. On identifying associated variants shared between two traits, …
14
… weights to the reported index (rs2877716) and another SNP, … over the locus (rs17361324 and rs2877716 are correlated at urn:x-… weight over rs17361324 and rs2877716 was robust to a …
15
Genetic and environmental factors as well as their interactions contribute to the pathogenesis of type 2 diabetes. Linkage analysis, candidate gene approaches, genome-wide …
16
The aim of this study was to test the impact of variants rs900400 (located near LEKR1 and CCNL1) and rs9883204 (located in ADCY5) on birth weight in a Chinese population. We …
17
… [5] reported associations of the ADCY5 rs2877716 variant—which is in LD with rs11708067 tested in our work—with parameters of insulin secretion and action (fasting plasma insulin, …
18
Although type 2 diabetes mellitus is a known risk factor for pancreatic cancer, the existence of shared genetic susceptibility is largely unknown. We evaluated whether any …
19
Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between genetic, epigenetic and environmental factors. While the major environmental factors, diet …
20
Diabetes and metabolic syndromes are chronic, devastating diseases with increasing prevalence. Human pluripotent stem cells are gaining popularity in their usage for …
21
Type 2 diabetes affects approximately 8% of the world’s population. Individuals of South Asian ancestry tend to develop metabolic abnormalities, leading to diabetes, at …
22
Type 2 diabetes (T2D) is a complex disease that is caused by a combination of genetic and environmental factors. While the major environmental factors, diet and activity level, are well …
23
To determine whether genetic variants associated with glucose homeostasis are associated with gestational diabetes (GDM). Study Design We genotyped 899 self-identified …
24
… The bioinformatics framework developed in this study suggested strong functional candidates in ADCY5 (rs2877716), SLC2A2 (rs5398) and GCK (rs1004558) that have not previously …
25
… Individuals harbouring the C-variant of single nucleotide polymorphism rs2877716, and the A-variant at nearby rs1178067, show exaggerated Type 2 diabetes risk 36. Lying on the long …
26
… Individuals harbouring the C-variant of single nucleotide polymorphism rs2877716, and the A-variant at nearby rs1178067, show exaggerated Type 2 diabetes risk [36]. Lying on the …
27
… For example, carriers of the major A-allele at rs11708067, or the C-allele at the neighboring single nucleotide polymorphism (SNP) rs2877716, lying on chromosome 3 in intron 3 of the …
28
Severe hypoglycaemia (SH) induced by sulfonylureas is a life-threatening condition. We hypothesized that recently identified polymorphisms associated with insulin secretion in GCKR, …
29
Direct-to-consumer genetic testing companies provide consumers' genetic risk scores for common diseases based on genotype. Single nucleotide polymorphism (SNP)-…
30
Diabetes mellitus is a diagnostic term for a group of disorders characterized by abnormal glucose homeostasis resulting in elevated blood sugar. It is among the most common of …
31
… This analysis revealed 4 new associations, and confirmed the association between rs1801282 and expression of PPARG in SAT, and rs2877716 and expression of PTPLB in blood. …
32
… As with the FGGRS, effects reported for rs917793 and rs11708067 were used in place of those corresponding to the linked SNPs rs1799884 and rs2877716. The effect of SNP …
33
Type 2 diabetes is a complex metabolic disorder characterised by varying degrees of impairment in insulin secretion and resistance to the action of insulin. Considerable progress has …
34
Type-2 diabetes is a complex disease modified by a number of environmental and genetic factors that contribute at varying degrees to the final phenotype and possibly interact with …
35
In this dissertation, I describe several studies that aim to clarify the role that local adaptation has played in shaping human genetic variation. I have studied indigenous populations living …
36
To date, 68 loci have been associated with type 2 diabetes (T2D) or glucose homeostasis traits. We report here the results of experiments aimed at functionally characterizing the SNPs …
37
Typ-2-Diabetes gewinnt zunehmend an Bedeutung, da die durch verringerte Insulinsensitivität und -sekretion gekennzeichnete Krankheit in der Bevölkerung stark zunimmt. Durch …
38
PROX1 étant un facteur de susceptibilité au diabète de type 2 (DT2), nousavons réalisé des études génétiques et moléculaires afin de comprendre son rôledans l’étiologie du DT2.…
39
… In this study we show a nominal association of rs2877716 (ADCY5) with insulin secretion and of rs17271305 (VPS13C) with 2 h BG in children. Other variants previously associated …
40
… [16] in the melatonin receptor 1B [MTNR1B] locus, rs780094 in the glucokinase regulator [GCKR] locus, rs730497 in the glucokinase [GCK] locus, rs11708067 and rs2877716 in the …
41
A recent genome-wide association study identified variants near CCNL1/LEKR1 (rs900400) and in ADCY5 (rs9883204) to be associated with birth weight. We examined the …
42
Genome-wide association studies (GWAS) have facilitated a substantial and rapid rise in the number of confirmed genetic susceptibility variants for type 2 diabetes (T2D). Approximately …
43
Genome-wide association studies (GWAS) s provide an unbiased means of exploring the landscape of complex genetic disease. As such, these studies have identified genetic variants …
44
Type 2 diabetes (T2D) is a common disease caused by a complex interplay between many genetic and environmental factors. Candidate gene studies and recent collaborative genome-…
45
The increase in the prevalence of overweight and obesity parallels the increase in physical inactivity and sedentary lifestyle, and leads to the worsening of cardiorespiratory fitness. Both …
46
Many complex diseases are known to have a substantial genetically heritable component. Elucidation of these genetic risk factors provides increased knowledge of the biological …
47
Recent meta-analysis of genome-wide association studies in European descent samples identified novel loci influencing glucose and insulin related traits. In the current …
48
… single nucleotide polymorphism (rs2877716) in strong linkage disequilibrium with rs11708067 (HapMap CEU population r 2 = 0.82). The rs2877716 variant was also associated with …
49
… The 2-h glucose-raising C allele of rs2877716 was associated with lower 2-h insulin (P = 1.4 × … Finally, we found that the rs2877716 C allele was also associated with increased risk of …
50
Type 2 diabetes mellitus has been at the forefront of human diseases and phenotypes studied by new genetic analyses. Thanks to genome‐wide association studies, we have made …
51
A meta-analysis of 21 genome-wide association studies identified 11 novel genetic loci implicated in fasting glucose homeostasis. We aimed to evaluate the impact of …
52
To identify genetic variants associated with birth weight, six genome-wide association studies were meta-analyzed (N= 10,623 Europeans) and followed by replication studies (N= …
53
Low birth weight is associated with an increased risk of T2DM. The mechanisms underlying this association are unknown and may represent intrauterine programming or …
54
Ziel dieser Arbeit war es Kandidatengene, die mit der Entwicklung von Adipositas assoziiert sind, auf eine veränderte Kopienzahl zu untersuchen. Zwar fanden wir in den von uns …
55
To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (N= 10,623 Europeans from pregnancy/birth …
56
The aim of this study was to test the impact of variants rs900400 (located near LEKR1 and CCNL1) and rs9883204 (located in ADCY5) on birth weight in a Chinese population. We …
57
A recent genome-wide association study identified variants near CCNL1/LEKR1 (rs900400) and in ADCY5 (rs9883204) to be associated with birth weight. We examined …
58
Using genetic scores for fasting plasma glucose (FPG GS) Background: and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from …
59
rs11206510 1p32. 3 55496039 PCSK9 CAD 1, 2 rs11591147 1p32. 3 55505647 PCSK9 CAD 3, 4 rs17114036 1p32. 2 56962821 PPAP2B CAD 2 rs17114046 1p32. 2 56966350 …
60
Over 120 type 2 diabetes (T2D) loci have been identified from genome-wide association analysis (GWAS), mainly from Caucasian populations. Very limited knowledge is available on …
61
Il diabete mellito (DM) non è solo una delle principali cause di morte, ma anche un importante fattore di rischio per la malattia cardiovascolare, l’insufficienza renale, la cecità e le …
62
Source data from the MIGen discovery and WTCCC validation samples 2. Selection of Risk Factor SNPs and Marginal SNPs 2.1. Source literature for SNP selection 2.2. …
63
Il diabete mellito (DM) non è solo una delle principali cause di morte, ma anche un importante fattore di rischio per la malattia cardiovascolare, l’insufficienza renale, la cecità e le …
64
Ο Σακχαρώδης Διαβήτης τύπου 2 αποτελεί αποδεδειγμένα μάστιγα στη σύγχρονη εποχή. Έχουν καταγραφεί για το 2019 περίπου 463 εκατομμύρια περιπτώσεις ενώ αναμένεται αυτές να …
Curated Studies0

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Unused Studies0

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