Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case–control study in three ethnic groups from North-West India

Sokhi, Jasmine; Sikka, Ruhi; Raina, Priyanka; Kaur, Ramandeep; Matharoo, Kawaljit; Arora, Punit; Bhanwer, A.J.S.

doi:10.1007/s00438-015-1099-2

Cited by 16 publications

(13 citation statements)

References 62 publications

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“…The Asp/Tyr missense variant of SNP rs1799999 in the PP1RR3A gene, which previously has been shown to associate with T2D risk in Jat Sikhs , showed a trend towards association in Indian women ( P = 0.06; Table ). The variant was also nominally associated with decreased 2‐hour (2‐h) insulin in Swedish women ( P = 0.02, Table ).…”

Section: Resultsmentioning

confidence: 99%

“…Previously, 6 loci have been associated with T2D or GDM in India [11,[16][17][18]. Of them, the rs7178572 SNP near the HMG20A gene was associated with GDM in Indian but not in Swedish women.…”

Section: Discussionmentioning

confidence: 99%

“…DNA was extracted from buffy coats using the QIAGEN Autopure W kit. Six SNPs previously associated with GDM and/or T2D in Indian people in either GWAS or candidate studies , and 79 SNPs associated with T2D/GDM from previous GWAS studies with replication, with overall P ‐values < 5 × 10 −8 (Table ), were genotyped in the current study using a Sequenom mass ARRAY platform or Taqman. All SNPs passed the Bonferroni threshold of <0.0006 for Hardy–Weinberg equilibrium test.…”

Section: Methodsmentioning

confidence: 99%

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Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus

et al. 2019

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Objective Gestational diabetes mellitus (GDM) is a transient form of diabetes characterized by impaired insulin secretion and action during pregnancy. Population‐based differences in prevalence exist which could be explained by phenotypic and genetic differences. The aim of this study was to examine these differences in pregnant women from Punjab, India and Scandinavia. Methods Eighty‐five GDM/T2D loci in European and/or Indian populations from previous studies were assessed for association with GDM based on Swedish GDM criteria in 4018 Punjabi Indian and 507 Swedish pregnant women. Selected loci were replicated in Scandinavian cohorts, Radiel (N = 398, Finnish) and STORK/STORK‐G (N = 780, Norwegian). Results Punjabi Indian women had higher GDM prevalence, lower insulin secretion and better insulin sensitivity than Swedish women. There were significant frequency differences of GDM/T2D risk alleles between both populations. rs7178572 at HMG20A, previously associated with GDM in South Indian and European women, was replicated in North Indian women. The T2D risk SNP rs11605924 in the CRY2 gene was associated with increased GDM risk in Scandinavian but decreased GDM risk in Punjabi Indian women. No other overlap was seen between GDM loci in both populations. Conclusions Gestational diabetes mellitus is more common in Indian than Swedish women, which partially can be attributed to differences in insulin secretion and action. There was marked heterogeneity in the GDM phenotypes between the populations which could only partially be explained by genetic differences.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus

et al. 2019

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“…DNA was extracted from frozen and stored buffy coats using (QIAGEN Autopure LS kits. Six SNPs previously associated with GDM or T2D in India [ 21 , 22 , 26 , 27 , 30 ] (Additional file 2 : Table S1) and 79 SNPs previously associated with T2D in Europe and elsewhere from GWAS studies up to 2012 (some of these also with GDM risk from candidate gene studies in GDM populations) were genotyped in the present study (Additional file 2 : Table S1) [ 14 ] on a Sequenom Mass ARRAY Platform (Sequenom San Diego, CA, USA) PLEX using MALDI-TOF mass spectrometer [ 31 ] or Taqman allelic discrimination assays using an ABI Prism 7900 sequence detection system (Applied Biosystems, Foster City, CA, USA). Genotyping was performed at the Lund University Diabetes Centre, Sweden after obtaining permission from ICMR (dated 21 october 2010 and Office of Drugs Controller General (India)(dated 14/12/2010).…”

Section: Methodsmentioning

confidence: 99%

Association between genetic risk variants and glucose intolerance during pregnancy in north Indian women

et al. 2018

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BackgroundGestational diabetes (GDM) is a more common problem in India than in many other parts of the world but it is not known whether this is due to unique environmental factors or a unique genetic background. To address this question we examined whether the same genetic variants associated with GDM and Type 2 Diabetes (T2D) in Caucasians also were associated with GDM in North Indian women.MethodsFive thousand one hundred pregnant women of gestational age 24–28 weeks from Punjab were studied by a 75 g oral glucose tolerance test (OGTT). GDM was diagnosed by both WHO1999 and 2013 criteria. 79 single nucleotide polymorphisms (SNPs) previously associated with T2D and glycemic traits (12 of them also with GDM) and 6 SNPs from previous T2D associations based on Indian population (some also with European) were genotyped on a Sequenom platform or using Taqman assays in DNA from 4018 women.ResultsIn support of previous findings in Caucasian GDM, SNPs at KCJN11 and GRB14 loci were nominally associated with GDM1999 risk in Indian women (both p = 0.02). Notably, T2D risk alleles of the variant rs1552224 near CENTD2, rs11708067 in ADCY5 and rs11605924 in CRY2 genes associated with protection from GDM regardless of criteria applied (p < 0.025). SNPs rs7607980 near COBLL1 (p = 0.0001), rs13389219 near GRB14 (p = 0.026) and rs10423928 in the GIPR gene (p = 0.012) as well as the genetic risk score (GRS) for these previously shown insulin resistance loci here associated with insulin resistance defined by HOMA2-IR and showed a trend towards GDM. GRS comprised of 3 insulin secretion loci here associated with insulin secretion but not GDM.ConclusionsGDM in women from Punjab in Northern India shows a genetic component, seemingly driven by insulin resistance and secretion and partly shared with GDM in other parts of the world. Most previous T2D loci discovered in European studies did not associate with GDM in North India, indicative of different genetic etiology or alternately, differences in the linkage disequilibrium (LD) structure between populations in which the associated SNPs were identified and Northern Indian women. Interestingly some T2D risk variants were in fact indicative of being protective for GDM in these Indian women.Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0380-8) contains supplementary material, which is available to authorized users.

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“…For these possible reasons, rs1799817 G > A polymorphism may be a functional variant for INSR gene. Sokhi et al 28 reported that INS rs689 polymorphism was associted with an increased risk of T2D. In addition, Lempainen et al 29 found that this polymorphism, cooperated with PTPN22 rs2476601 and IFIH1 rs1990760 loci, might be correlated with the β-cell autoantibodies.…”

Section: Discussionmentioning

confidence: 99%

Association of metabolism‐related genes polymorphisms with adenocarcinoma of the oesophagogastric junction: Evidence from 2261 subjects

Tang

Liu

Zhong

et al. 2019

J of Cellular Biochemistry

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The etiology of adenocarcinoma of the esophagogastric junction (AEG) remains unclear. It is believed that the increasing of AEG may be correlated with the elevated ratio of obesity and overweight. Thus, metabolism‐related genes and variants may play important roles in the occurrence and progress of AEG. The current investigation involved 720 patients with AEG and 1541 healthy controls. We selected transcription factor 7‐like 2 (TCF7L2) rs7903146 and rs290481, INS rs689 and INSR rs1799817 single‐nucleotide polymorphisms (SNPs), and explored the association of these SNPs with lymph node status and risk of AEG. The polymerase chain reaction was harnessed to identify the genotyping of four polymorphisms. We found that TCF7L2 rs290481 (T > C) and INSR rs1799817 (G > A) polymorphisms were associated with the increased susceptibility of AEG (P = .007 and 0.004 for TCF7L2 rs290481 in TC vs TT and TC/CC vs TT models, and P = .040 for INSR rs1799817 in GA/AA vs GG model). We also conducted a subgroup analysis by different cancer stage. We identified that TCF7L2 rs290481, INS rs689, and INSR rs1799817 SNPs increased the susceptibility of AEG in different cancer stage subgroups. In addition, we found that rs290481 SNP in TCF7L2 gene increased the risk of lymph node metastasis in drinking patients with AEG. However, the association of INSR rs1799817 SNP with a decreased risk of lymph node metastasis in smoking patients with AEG was found. Our findings highlight that TCF7L2 rs290481, INS rs689, and INSR rs1799817 polymorphisms may increase the risk of AEG. In addition, TCF7L2 rs290481 and INSR rs1799817 SNPs may influence the lymph node metastasis in patients with AEG.

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Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case–control study in three ethnic groups from North-West India

Cited by 16 publications

References 62 publications

Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus

Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus

Association between genetic risk variants and glucose intolerance during pregnancy in north Indian women

Association of metabolism‐related genes polymorphisms with adenocarcinoma of the oesophagogastric junction: Evidence from 2261 subjects

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