Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 16 de 16
Filter
1.
Trop Doct ; 53(3): 396-397, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37113077

ABSTRACT

Fibrocystic disease of breast is characterized by lumpiness and discomfort. Our 48-year-old perimenopausal patient had a painless progressively enlarging non-tender lump in her right breast since 1 year. On physical examination a 10 × 8 cm firm non-tender lump was observed occupying almost the whole breast, whose surface was nodular though not fixed. The operative specimen appeared like a honeycomb with multiple cavities filled with yellowish firm material typical of tuberculosis. Surprisingly, histology found neither this nor malignancy. Radical breast excision is never warranted except if the latter is confirmed.


Subject(s)
Fibrocystic Breast Disease , Tuberculosis , Female , Humans , Middle Aged , Fibrocystic Breast Disease/diagnosis , Fibrocystic Breast Disease/surgery , Fibrocystic Breast Disease/pathology
2.
Am Surg ; 89(12): 5570-5576, 2023 Dec.
Article in English | MEDLINE | ID: mdl-36866816

ABSTRACT

INTRODUCTION: Clinical hypocalcemia (CH) following total thyroidectomy (TT) is a potentially life-threatening condition if left untreated. This study aimed at evaluating the accuracy of parathyroid hormone (PTH) measured in the early morning of the first postoperative day (POD-1) in predicting CH, and determining the cutoff values of PTH that can predict the development of CH. METHODS: We performed a retrospective review of patients undergoing TT between February 2018 and July 2022. Serum PTH, calcium, and albumin levels were measured on morning (6-8 AM) of postoperative day one (POD-1), and serum calcium level was measured from POD-2 onwards. We performed ROC curve analysis to determine the accuracy of PTH in predicting postoperative CH, and cutoff values of PTH to predict CH. RESULTS: Ninety-one patients, 52 (57.1%) with benign and 39 (42.9%) with malignant goiter were included. The incidence of biochemical, and clinical hypocalcemia was 24.2% and 30.8%, respectively. In our study serum, PTH measured in the early morning of first postoperative day following TT was found to have good accuracy (AUC = .88) in predicting CH. A PTH value of ≥27.15 pg/mL was found to have a 96.4% sensitivity in ruling out CH, while a serum PTH value <10.65 pg/mL had a specificity of 95.2% in predicting CH. DISCUSSION: Patients with a serum PTH value of ≥27.15 pg/mL can be discharged without any supplements, those with PTH <10.65 pg/mL should be started on calcium and calcitriol supplements, while patients having PTH values between 10.65 and 27.15 pg/mL should be monitored for the development of signs and/or symptoms of hypocalcemia.


Subject(s)
Hypocalcemia , Parathyroid Hormone , Humans , Hypocalcemia/diagnosis , Hypocalcemia/etiology , Calcium , Thyroidectomy/adverse effects , Postoperative Complications/etiology , Prospective Studies
3.
Am Surg ; 89(6): 2701-2704, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36134572

ABSTRACT

A wide range of clinical presentations for Cushing's syndrome has been described in the literature. Avascular necrosis of femur is a well-recognized complication of excessive glucocorticoid administration, but its occurrence due to endogenous hypercortisolism is rare. We present the case of a 47-year-old male who presented to us with severe low backache, hypertension, uncontrolled diabetes, and other signs and symptoms of Cushing's syndrome. Hormonal evaluation confirmed hypercortisolism, and a contrast-enhanced computed tomography of the abdomen localized the lesion in the left adrenal gland. Assessment of the severe low back ache-the main symptom for which the patient came to us-by magnetic resonance imaging of the spine and pelvis revealed avascular necrosis of bilateral femoral heads. Resection of the left adrenal gland revealed an adrenocortical carcinoma. To the best of our knowledge, this is only the second case where an adrenocortical cancer leading to hypercortisolism is the cause of avascular necrosis of hip.


Subject(s)
Adrenal Cortex Neoplasms , Adrenocortical Carcinoma , Cushing Syndrome , Femur Head Necrosis , Male , Humans , Middle Aged , Cushing Syndrome/complications , Cushing Syndrome/surgery , Adrenocortical Carcinoma/complications , Adrenocortical Carcinoma/diagnostic imaging , Adrenocortical Carcinoma/surgery , Femur Head Necrosis/etiology , Femur Head Necrosis/complications , Adrenal Cortex Neoplasms/complications , Adrenal Cortex Neoplasms/diagnostic imaging , Adrenal Cortex Neoplasms/surgery , Femur
4.
Indian J Endocrinol Metab ; 26(1): 4-12, 2022.
Article in English | MEDLINE | ID: mdl-35662758

ABSTRACT

The main objective of this systematic review and meta-analysis was to review, assess and report on the studies that have evaluated selective alpha blockade (SAB) vs. non-selective alpha blockade (NSAB) therapy in patients undergoing surgery for pheochromocytomas and paragangliomas (PPGL). We performed a systematic search of electronic databases. A meta-analysis was conducted to examine the effectiveness of the two blockades. RevMan 5.3 was used for the meta-analysis. Of the eight articles that met the inclusion criteria, there was only one randomized control trial. Meta-analysis showed that there was no significant difference between the groups SAB and NSAB with regard to intra-operative systolic blood pressure (SBP) >160 mm Hg (relative risk (RR) 0.95 [95% CI 0.57, 1.56] P = 0·83) and intra-operative vasopressor requirement (RR 1.10 [95% CI 0.96, 1.26] P = 0·16). Meta-analysis revealed that there was a significant difference between the groups (SAB vs NSAB) with respect to post-operative vasopressor requirement (RR 1.66 [95% CI 1.0, 2.74] P = 0·05). There was no significant difference between the groups with respect to post-operative complications (RR 0.84 [95% CI 0.58, 1.22] P = 0·36). In conclusion, as patients blocked selectively may have a higher incidence of vasodilator requirement intra-operatively, NSAB offers some haemodynamic advantage over SAB. However, NSAB's real clinical benefit cannot be ascertained with the current studies as this difference did not result in any significant advantage over SAB with regard to morbidity or mortality.

5.
Article in English | MEDLINE | ID: mdl-35249513

ABSTRACT

Frailty is a conglomerated elderly disorder that includes multiple abnormalities, like anemia, an increased titer of catabolic hormones, and compromised physiology of most of the body systems. Many studies have established the biomarkers that correlate with physical function and immune aging; however, people can age differently, so chronological age is not a sufficient marker of susceptibility to disabilities, morbidities, and mortality. The pathophysiology of frailty is not clearly understood, but a critical role of enhanced inflammation in the body is hypothesized. Many factors contribute to the development of frailty syndrome, such as pro-inflammatory cytokines, inflammatory markers, inflammatory cytokines, and secosteroids, like vitamin D. This review aims to highlight the role of inflammatory and cytokine biomarkers and vitamin D in the pathogenesis of Frailty Syndrome.


Subject(s)
Frailty , Humans , Aged , Cytokines , Frail Elderly , Biomarkers/metabolism , Inflammation , Aging , Vitamin D
6.
Article in English | MEDLINE | ID: mdl-34939556

ABSTRACT

BACKGROUND: Cardiovascular diseases (CVD) are important causes of death worldwide. Atherosclerosis is a chronic inflammatory disorder. It is the major cause of CVD and is manifested by ischemic heart disease or coronary artery disease (CAD). TNF-α is a pro-inflammatory cytokine that regulates immune response and promotes the development of atherosclerosis. Cytochrome p450 1B1 (CYP1B1) is an enzyme involved in the metabolism of endogenous and exogenous substrates. OBJECTIVES: This study aimed at examining the association of TNF-α rs1800629 G>A and CYP1B1 rs1056827 G>T gene polymorphisms with CAD susceptibility in an Indian cohort. METHODS: AS-PCR and direct DNA sequencing were used to examine the association of TNF-α rs1800629 G >A and CYP1B1 rs1056827 G>T gene polymorphism with CAD in an Indian cohort. A total of 100 clinically confirmed cases of CAD and 110 matched apparently healthy controls were genotyped. RESULTS: Allelic and genotypic frequencies did not deviate from Hardy-Weinberg equilibrium in the controls (p>0.05) for TNF-α G-308A and CYP1B1 rs1056827G>A. There was no significant difference between the TNF-α rs1800629 A>G genotype distribution between cases and controls (P-value >0.05). A significant difference was observed between the CYP1B1 rs1056827 G>T genotype distribution between CAD cases and controls (p<0.0003). Our result indicated that in the codominant model, the GA genotype of the CYP1B1 rs1056827 G>T was associated with CAD with OR= 2.21(1.17 to 4.15), RR=1.38(1.07 to 1.78), and p<0.013. In the dominant model, the (GA+AA) genotype was associated with CAD with OR=2.79(1.54 to 5.05) and p<0.007. The CYP1B1 rs1056827 'A' allele was associated with CAD with OR = 2.30 (1.55 to 3.42) and p< 0.0001. Our results indicated that TNF-α 1800629 gene polymorphism was strongly associated with hypercholesteremia (p<0.0009), HDL (p<0.0001), TGL (p<0.039), hypertension (p<0.0001), and smoking (p<0.0001) in patients with Coronary Artery Disease. Similar correlations of CYP1B1 rs1056827 genotypes were reported with cholesterol (p<0.020), HDL (p<0.002), LDL (p<0.006), hypertension (p<0.03), and smoking (p<0.005). CONCLUSION: It was reported that the GA genotype of the CYP1B1 rs1056827 G>T was strongly associated with susceptibility to Coronary Artery Disease with OR= 2.21(1.17 to 4.15)) and p<0.013, and similarly, its A allele was associated with predisposition to CAD with OR = 2.30 (1.55 to 3.42) and p< 0.0001. Our results indicated that TNF-α 1800629 gene polymorphism is not associated with predisposition to Coronary Artery Disease. Nevertheless, these results should be taken with caution and further validated with larger-scale studies before being introduced in the clinical setting.


Subject(s)
Coronary Artery Disease , Tumor Necrosis Factor-alpha , Case-Control Studies , Coronary Artery Disease/genetics , Cytochrome P-450 CYP1B1/genetics , Genetic Predisposition to Disease , Humans , Polymorphism, Genetic , Risk Factors , Tumor Necrosis Factor-alpha/genetics
7.
Indian J Surg Oncol ; 12(3): 598-602, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34658590

ABSTRACT

Only a few countries of the world have a population more than Bihar, but due to the lack of a cancer registry, authentic research, and publications, data regarding the clinicopathological characteristics of breast cancer patients from this state are scarce. The present study was aimed to report the clinicopathological characteristics of breast cancer patients at a tertiary care center in Bihar, India. This is a retrospective review of a prospectively maintained database of patients of breast cancer treated between January-2018 and March-2020. One hundred fifteen patients with breast carcinoma were included of which 112 (97.4%) were women. The mean age was 47.28 ± 11.62 years and 54.5% of women were postmenopausal. Most patients had a clinical stage of II or III (44.5% each) while 8.7% of patients had stage IV disease. Invasive ductal carcinoma no special type (IDC-NST) was the most common histology (85.2%). The majority of tumors were grade II (55.6%), lymphovascular invasion was seen in 45.6%, and perineural invasion in 18.4%. Estrogen receptor was found in 41.8%, progesterone receptor was positive in 47.3%, and human epidermal growth factor receptor-2 (HER-2/Neu) overexpression was observed in 39.8%. Triple-negative breast cancer was found in 26.2% of patients. The majority underwent mastectomy (71.3%) while breast conservation was done in 26%. All except one patient underwent axillary lymph node dissection for axillary staging. 43.5% patients received neoadjuvant chemotherapy, 52.9% received adjuvant chemotherapy, while 3.5% patients received palliative chemotherapy. The clinicopathological profile of breast cancer patients from Bihar is similar to that reported from other parts of India except for a lower rate of distant metastasis.

8.
J Pers Med ; 10(4)2020 Oct 26.
Article in English | MEDLINE | ID: mdl-33114503

ABSTRACT

Coronary artery disease (CAD) is a major cause of death all over the world. CAD is caused by atherosclerosis which is induced by the interaction of genetic factors and environmental factors. Genome-wide association studies have revealed the association of certain gene polymorphisms with susceptibility to CAD. Omentin 1 is an adipokine secreted by the visceral adipose tissues and has been reported to have anti-inflammatory, cardioprotective, and enhances insulin sensitivity. In this study, we examined the role of omentin-1 common single nucleotide polymorphisms (SNPs) (rs2274907 A > T and rs2274908 G > A) in CAD. We conclude that the AT genotype and the T allele of the rs2274907 A > T is associated with Cad in the south Indian population. Our results indicated that the rs2274907 SNP may be associated with CAD in this population. This finding needs further validation in well-designed and large-sample size studies before being introduced in clinical settings.

9.
Cureus ; 12(12): e12350, 2020 Dec 28.
Article in English | MEDLINE | ID: mdl-33520545

ABSTRACT

Papillary thyroid carcinoma (PTC) is one of the most common thyroid malignancy with various histologic variants. Acknowledging the correct histological variant of PTC helps to know about the tumor's nature and prognosis. The Warthin-like variant of papillary thyroid (WLPTC), a newly described histologic variant of PTC, is relatively uncommon. A 16-year-old female presented with complaints of painful thyroid swelling for two years. Fine needle aspiration cytology (FNAC) from the lobes showed lymphocytic thyroiditis features with Hurthle cell change. Sections from the left lobe revealed a diagnosis of a Warthin­like variant of PTC without nodal metastasis. WLPTC is a rare variant having a favorable outcome due to the absence of lymph node metastasis, extra-thyroidal extension, and a low recurrence rate. The correct cytological and histomorphological features are of utmost importance to render the diagnosis of WLPTC for better management.

10.
Article in English | MEDLINE | ID: mdl-31613733

ABSTRACT

OBJECTIVE: Coronary artery disease (CAD) is one of the most common causes of death worldwide. Risk factors of CAD include high LDL-C, low high-density lipoprotein (HDL), hypertension, lack of exercise, genetic factors, etc. Polymorphisms of the LDLR gene have been associated with CAD in previous studies. METHODS: The LDLR-rs72658855 C>T genotyping was detected by using allele-specific PCR (ASPCR). The association of rs2228671 and rs72658855 with CAD in a south Indian cohort (200 CAD patients and 200 matched healthy controls was studied. RESULTS: Our findings showed that rs2228671 gene variability is associated with increased susceptibility to coronary artery disease in the codominant inheritance model for variant CC vs. CT OR 3.42(1.09-10.7), with P<0.034. A non-significant association was reported in the recessive inheritance model for the variant (CC+CT) vs. TT OR 0.56(0.16-1.95), at P<0.36. and in the dominant inheritance model for variant CC vs. (CT+TT) OR 2.8(1.07-7.34), at P<0.032 .In case of allelic comparison, it was indicated that the LDLR rs2228671-T allele was associated with an increased risk of developing CAD compared to C allele OR=2.4, with 95% CI (1.05-5.64) and P< 0.036 . Our findings showed that LDLR rs72658855 C>T gene variability was associated with an increased susceptibility to coronary artery disease in the codominant inheritance model for variant CC vs. CT OR 1.7(1.1-2.6), at P<0.015 and in the dominant inheritance model for variant CC vs. (CT+TT) OR 1.66(1.07-2.58), at P<0.0.02.. In case of allelic comparison, a non-significant association was reported in LDLR rs72658855-T and C allele. CONCLUSION: We concluded that the heterozygosity in LDLR-rs72658855 and rs2228671 and T allele in LDLR rs2228671 are strongly associated with increased susceptibility to coronary artery disease. These results must be validated by future well-designed studies with larger sample sizes and different populations.


Subject(s)
Coronary Artery Disease/epidemiology , Coronary Artery Disease/genetics , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Heterozygote , Receptors, LDL/genetics , Adult , Case-Control Studies , Cohort Studies , Coronary Artery Disease/blood , Female , Humans , India/epidemiology , Male , Middle Aged , Receptors, LDL/blood , Risk Factors
11.
J Pers Med ; 9(2)2019 Jun 06.
Article in English | MEDLINE | ID: mdl-31174318

ABSTRACT

Coronary artery disease (CAD) is a major cause of death all over the world. CAD is caused by atherosclerosis which is induced by the interaction of genetic factors and environmental factors. Traditional environmental risk factors include hyperlipidemia, diabetes mellitus, lack of exercise, obesity, poor diet and others. Genome-wide association studies have revealed the association of certain gene polymorphisms with susceptibility to CAD. Omentin 1 is an adipokine secreted by the visceral adipose tissues and has been reported to have anti-inflammatory, cardioprotective, and enhances insulin sensitivity. In this study, we examined the role of omentin-1 common single nucleotide polymorphisms (SNPs) (rs2274907 A>T and rs2274908 G>A) in CAD. We genotyped 100 CAD patients and 100 matched healthy controls from the south Indian population using an amplification refractory mutation system (ARMS-PCR) and allele-specific PCR (AS-PCR). Our result indicated the rs2274908 G>A is not associated with CAD. Results showed that there was a significant difference in rs2274907 A>T genotype distribution between controls and CAD cases (P-value < 0.05). Results indicated that the AT genotype of the rs2274907 is associated with CAD with OR = 3.0 (95% confidence interval (CI), 1.64 to 5.49), 1.65 (1.27 to 2.163), P = 0.002. The T allele of the rs2274907 was also associated with CAD with OR = 1.82 (95% CI, 1.193 to 2.80), 1.37 (1.08 to 1.74), P = 0.005. Rs2274907 genotype distribution was also correlated with serum total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), hypertension and diabetes. We conclude that the AT genotype and the T allele of the rs2274907 A>T is associated with Cad in the south Indian population. Further studies on the effect of the rs2274907 A>T on omentin-1 function are recommended, and future well-designed studies with larger sample sizes and in different populations are required to validate our findings.

12.
Article in English | MEDLINE | ID: mdl-31038082

ABSTRACT

BACKGROUND: Genetic variants in pre-microRNA genes or the 3'UTR of miRNA target genes could influence miRNA-mediated regulation of gene expression and thus contribute to the susceptibility and prognosis of human diseases. Several studies have investigated the association of genetic variants in the seed region of miRNAs with cardiometabolic phenotypes .Therefore the aim of study was to investigate the potential association of miR-4513 rs2168518 C>T gene variability with the risk of developing CAD and its association with different cardiometabolic phenotypes in an Indian cohort to stratify CAD burden in the general population. METHODS: The study was conducted on 100 clinically confirmed CAD patients and 100 healthy individuals. Genotyping of MicroR-4513 rs2168518C>T gene variability was performed using Amplification refractory mutation system PCR method. RESULTS: A significant difference was observed in the genotype distribution among CAD cases and healthy controls. The frequencies of three genotypes CC, CT, TT in CAD patient and healthy controls were 5%, 77%, 18%, and 28%, 45% and 27% respectively. A multivariate analysis showed that miR- 4513 rs2168518 polymorphism is associated with an increased susceptibility to CAD in codominant inheritance model for variant CC vs. CT OR 9.58 CI (3.45-26.57), RR 2.3(1.75-3.02), P=0.001. Results also indicate a potential dominant effect of miR-4513 rs2168518 C/T polymorphism on susceptibility of CAD in dominant inheritance model for variant CC vs. (CT+TT) OR 7.38 (2.71-20.07), RR 1.96 (1.56-2.46), P=0.001. In allelic comparison, T allele weakly increased risk of CAD compared to C allele (OR=1.50, 95% CI (1.09-2.26) RR 1.15 (0.94-1.39) P=0.044. CONCLUSION: It is concluded that CT genotype and T allele of microR-4513 rs2168518 is strongly associated with increased susceptibility to CAD. Furthers studies with larger sample sizes are necessary to confirm this result.


Subject(s)
Coronary Artery Disease/genetics , MicroRNAs/genetics , Polymorphism, Single Nucleotide , Case-Control Studies , Coronary Artery Disease/diagnostic imaging , Coronary Artery Disease/epidemiology , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Heterozygote , Homozygote , Humans , Incidence , India/epidemiology , Male , Middle Aged , Phenotype , Risk Assessment , Risk Factors
13.
Article in English | MEDLINE | ID: mdl-30289085

ABSTRACT

AIM: Studies have evaluated the association of miRNA-423 C>A genotyping with the susceptibility to various diseases such cancers, atherosclerosis and inflammatory bowel disease but the results were contradictory. However, no studies have reported the association between miRNA-423 rs6505162 C>A polymorphism and susceptibility of coronary artery disease. MicroRNAs regulate expression of multiple genes involved in atherogenesis. Therefore, we investigated the association of microRNA-423C>T gene variations with susceptibility to coronary artery disease. METHODOLOGY: This study was conducted on 100 coronary artery disease patients and 117 matched healthy controls. The genotyping of the microRNA-423 rs6505162C>A was performed by using Amplification refractory mutation system PCR method (ARMS-PCR). RESULTS: A significant difference was observed in the genotype distribution among the coronary artery disease cases and sex-matched healthy controls (P=0.048). The frequencies of all three genotypes CC, CA, AA reported in the patient's samples were 55%, 41% and 4% and in the healthy controls samples were 55%, 41% and 4% respectively. Our findings showed that the microRNA-423 C>A variant was associated with an increased risk of coronary artery disease in codominant model (OR = 1.96, 95 % CI, 1.12-3.42; RR 1.35(1.05-1.75, p=0.017) of microRNA-423CA genotype and significant association in dominant model (OR 1.97, 95% CI (1.14-3.39), (CA+AA vs CC) and non-significant association for recessive model (OR=1.42, 95%CI=0.42-4.83, P=0.56, AA vs CC+CA).While, the A allele significantly increased the risk of coronary artery disease (OR =1.56, 95 % CI, 1.03-2.37; p=0.035) compared to C allele. Therefore, it was observed that more than 1.96, 1.97 and 1.56 fold increased risk of developing coronary artery disease. CONCLUSION: Our findings indicated that microRNA-423 CA genotype and A allele are associated with an increased susceptibility to Coronary artery disease.


Subject(s)
Coronary Artery Disease/genetics , MicroRNAs/genetics , Adult , Aged , Aging , Alleles , Case-Control Studies , Coronary Artery Disease/blood , Coronary Artery Disease/epidemiology , Female , Gene Frequency , Genetic Predisposition to Disease/genetics , Genetic Variation/genetics , Genotype , Humans , India/epidemiology , Male , Middle Aged , Polymerase Chain Reaction , Risk Factors , Sex Characteristics
14.
Microrna ; 8(3): 198-205, 2019.
Article in English | MEDLINE | ID: mdl-30539710

ABSTRACT

AIM: The microRNAs regulate the expression of multiple genes involved in diseases such as cancer, diabetes and cardiovascular disease. In this study, we have investigated the association between the miR-224 gene polymorphism (rs188519172A>G) and susceptibility of coronary artery disease CAD. METHODOLOGY: Hundred CAD patients and 100-matched healthy control were included. Genotyping of the miR-224 (rs188519172A>G) polymorphism was performed using Amplification refractory mutation system PCR method (ARMS-PCR). RESULTS: A significant difference was observed in the genotype distribution among CAD patients and healthy controls (P=0.018). The frequencies of all three genotypes GG, GA, AA reported in the patient's samples were 33%, 66% and 01%, and in the healthy controls samples, were 16%, 82% and 2% respectively. A multivariate analysis based on logistic regression was conducted for each group to estimate the association between miR-224 rs188519172 genotypes and risk to coronary artery disease. Results show that the miR-224 (rs188519172 A>G) polymorphism was associated with a decreased risk to CAD in a codominant model, GA genotype vs. GG (OR = 0.39 (95 % CI, 0.19-0.76), RR 0.58 (0.38-0.90, P=0.006). In the dominant model, (GA+AA vs. GG), there was also a significant association with the OR=0.38 (95 % CI (0.19-0.76), RR 0.58 (0.38-0.89), and P=0.006. Whereas, in the recessive model, (GG+GA vs. AA), there was no significant association of CAD with OR=0.49 (95% CI (0.044-5.54), RR 0.74 (0.33-1.68), and P=0.48. CONCLUSION: Our findings indicated that miR-224 (rs188519172) GA genotype is associated with a decreased susceptibility to CAD.


Subject(s)
Coronary Artery Disease/genetics , Genetic Variation/genetics , MicroRNAs/genetics , Case-Control Studies , Coronary Artery Disease/diagnosis , Female , Humans , Male , Middle Aged
15.
J Cardiovasc Dev Dis ; 5(2)2018 May 29.
Article in English | MEDLINE | ID: mdl-29843469

ABSTRACT

PURPOSE: The low-density lipoprotein receptor is responsible for the binding and uptake of plasma LDL particles and plays a critical role in maintaining cellular cholesterol homeostasis. LDLR gene SNP rs688 has been reported to be associated with increased plasma total and LDL cholesterol in several populations and can lead to elevated plasma LDL levels, resulting in an increased risk for atherosclerosis and coronary artery disease. This study aimed to explore genetic LDLR variant rs688 for its potential roles in coronary artery disease. METHODOLOGY: This study recruited 200 coronary artery disease patients and 200 healthy individuals. Genotyping of LDLR-rs688C > T gene variations was performed using the allele specific PCR method. Correlation of LDLR-rs688C > T gene variants with different clinicopathological features of coronary artery disease patients was performed. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were applied to evaluate the correlation of this microRNA polymorphism with coronary artery disease risk. RESULTS: A significant difference was observed in genotype distribution among the coronary artery disease and matched healthy controls (p = 0.003). The frequencies of all three genotypes CC, CT, TT reported in the patient samples were 14%, 65% and 21% and in the healthy controls samples were 18%, 73% and 9%, respectively. The increased risk of developing CAD in Indian patients was found to be associated with LDLR rs688 TT genotype (OR = 3.0, 95% CI, 1.43 × 6.2; p = 0.003) RR 1.87 (1.20⁻2.91) p = 0.0037) and also the increased risk of developing CAD was reported to be associated with LDLR rs688 T allele (OR = 0.74, 95% CI, 1.57⁻0.97; p = 0.03) RR 0.85 (0.73⁻0.99) p = 0.03) compared to the C allele. Therefore, it was observed that more than a 3.0- and 0.74-fold increase risk of developing CAD was associated with TT genotype and T allele in Indian coronary artery disease patients. CONCLUSION: The findings indicated that LDLR rs688 TT genotype and T allele are associated with an increased susceptibility to coronary artery disease patients. LDLR-rs688C > T gene variation can be used as a predisposing genetic marker for coronary artery disease. Further studies with larger sample sizes are necessary to confirm our findings.

SELECTION OF CITATIONS
SEARCH DETAIL
...