Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis

Maternal methylenetetrahydrofolate reductase [MTHFR] C677T polymorphism is reported as risk factor for Down syndrome [DS] pregnancy but fetal MTHFR C677T polymorphism was not well studied as risk factor for DS. Some studies were published, but results were controversial. Hence a meta-analysis of all published studies investigated DS case MTHFR polymorphism were performed to explore the association between C677T polymorphism of individual and DS risk. Crude odds ratios [ORs] with 95% confidence intervals [CIs] were calculated to estimate the strength of association. The analyses were conducted with meta-Analyst and MIX software. Total five case-control studies with 401 DS cases and 529 controls were included in present meta-analysis. Meta-analysis results suggested that MTHFR C677T polymorphism did not contribute any DS risk in overall population using four genetic models [for T vs. C: OR = 1.56, 95% CI = 0.83-2.89]. However, codominant model analysis showed significant association between MTHFR C677T polymorphism and DS risk [OR = 1.66; 95% CI = 1.22-2.25; p = 0.001]. Less heterogeneity [I2 = 48.31], so fixed effect model was used. In conclusion, present meta-analysis suggests that MTHFR C677T polymorphism of fetus is not risk factor for DS

Null association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: an updated meta-analysis

Background: Methylenetetrahydrofolate reductase [MTHFR] is an important enzyme of folate/homocysteine pathway and is essential for DNA synthesis and methylation. MTHFR gene polymorphisms have been reported as risk factors for congenital defects and several metabolic and neurological disorders. Several studies have investigated an association between maternal MTHFR A1298C polymorphism and Down syndrome [DS] child. However, results have been inconclusive

Aim: A meta-analysis of published case-control studies up to December, 2015 was performed to investigate this association

Methods: Electronic databases were searched for case-control studies and odds ratios [ORs] with 95% confidence intervals [CIs] were estimated to assess the association. Total twenty-one case-control studies with 2004 cases and 2523 controls were included in the present meta-analysis

Results: Results of meta-analysis showed a significant association between maternal A1298C polymorphism and DS pregnancy with homozygote model [CC vs. AA: OR= 1.26, 95% CI= 1.01-1.58, p=0.04], but no such association was found in any other genetic models [C vs. A: OR =1.07, 95% CI= 0.93-1.23, p=0.32; CC + AC vs. AA: OR =1.08, 95% CI= 0.96-1.23, p=0.18; CC vs. AC+ AA: OR = 1.11, 95% CI= 0.90-1.36, p=0.30; AC vs. AA: OR =1.06, 95% CI= 0.93-1.21, p= 0.34]

Conclusion: Subgroup and sensitivity analysis results showed that this polymorphism is a risk factor for DS pregnancy in Asian populations but not in Caucasian population as well as in overall meta-analysis

Role of MTHFR A1298C gene polymorphism in the etiology of prostate cancer: a systematic review and updated meta-analysis

Methylenetetrahydrofolate reductase [MTHFR] is an important enzyme of folate/homocysteine pathway and is essential for synthesis, repair and methylation of DNA. Various studies have performed to evaluate the role of MTHFR A1298C gene polymorphism to the risk of prostate cancer and the results were inconclusive and inconsistent. A meta-analysis of published case-control studies, up to December 2014, was performed to investigate the association between MTHFR A1298C gene polymorphism and the susceptibility of prostate cancer. PubMed, Science direct, Springer link and Google scholar databases were searched for case-control studies and crude odds ratios [ORs] with 95% confidence intervals [CIs] were calculated to estimate the strength of association. The analyses were conducted with Open Meta-Analyst and MIX softwares. Total thirteen case-control studies with 4673 prostate cancer patients and 6982 controls were included in this meta-analysis. No associations were observed between MTHFR A1298C gene polymorphism and prostate cancer in any genetic model [allele contrast [C vs. A]: OR = 1.01; 95% CI: 0.91-1.13; p= 0.73; dominant model [CC + AC vs. AA]: OR= 0.98, 95% CI= 0.91-1.06, p= 0.73; homozygote model [CC vs. AA]: OR = 0.96, 95% CI= 0.83-1.10, p= 0.55; co-dominant model [AC vs. AA]: OR= 0.98, 95% CI= 0.91-1.07, p= 0.76; and recessive model [CC vs. AC + AA]: OR =0.96, 95% CI= 0.84-1.10, p= 0.61]. Moreover, when the data were stratified on the basis of ethnicity no significant associations were observed. The results of the present meta-analysis suggest that the MTHFR A1298C gene polymorphism has no effect on the etiology of prostate cancer

Clinical profile of forefoot eczema: a study of 42 cases.

BACKGROUND: Forefoot eczema (FE) is characterized by dry fissured dermatitis of the plantar surface of the feet. AIM: To study the clinical profile of FE and the possible etiological factors. METHODS: Forty-two patients with FE were included in the study. A detailed history was recorded and examination done. Fungal scrapings and patch test with Indian Standard Series (ISS) were performed in all patients. RESULTS: The most common site affected was the plantar surface of the great toe in 16 (38.09%) patients. Hand involvement, with fissuring and soreness of the fingertips and palm, was seen in four patients (9.5%). Seven patients (16.6%) had a personal history of atopy whereas family history of atopy was present in six (14.2%). Seven patients (16.6%) reported aggravation of itching with plastic, rubber or leather footwear, and 13 (30.9%), with detergents and prolonged contact with water. Negative fungal scrapings in all patients ruled out a dermatophyte infection. Patch testing with ISS was performed in 19 patients and was positive in five. CONCLUSIONS: FE is a distinctive dermatosis of the second and third decade, predominantly in females, with a multifactorial etiology, possible factors being chronic irritation, atopy, footwear and seasonal influence.

Lichen amyloidosus: a study of clinical, histopathologic and immunofluorescence findings in 30 cases.

BACKGROUND: Lichen amyloidosus (LA) is a primary localized cutaneous amyloidosis characterized clinically by discrete hyperkeratotic hyperpigmented papules and histologically by deposition of amyloid material in previously normal skin without any evidence of visceral involvement. AIMS AND OBJECTIVES: The aim of this work was to study the etiology, clinical features, histopathology and direct immunofluorescence findings in LA. METHODS: A prospective study of 30 patients with clinical, histological and immunofluorescence findings suggestive of LA was undertaken. After a detailed history and clinical examination, two punch biopsies for histopathology and immunofluorescence were taken. RESULTS: Of the 30 patients, 19 (63.3%) were males and 11 (36.7%) were females with duration of LA ranging from 6-20 months. Pruritus was the presenting symptom in 27 (90%) patients. Shin was involved in 26 (86.7%) followed by arms in three (10%) and back in one (3.3%). Seventeen patients (56%) had used scrubs for more than 2 years. Histopathology, direct immunofluorescence and Congo red staining detected amyloid in all cases. CONCLUSIONS: LA commonly presents over the shins as pruritic discrete hyperpigmented papules. Familial predisposition and friction may have a pathogenic role. Histopathological examination is very useful in the detection of amyloid which may be supplemented with direct immunofluorescence and Congo red staining.

Extensive larva migrans.

Larva migrans is characterized by tortuous migratory lesions of the skin caused by larvae of nematodes. A 26-year-old fisherman presented to us with complaints of an itchy eruption on his back and arms of two months' duration. Clinical examination revealed multiple wavy serpentine tracts and fork like lesions with a raised absolute eosinophil count of 3800 cells/cmm. Biopsy was inconclusive. This case is reported to highlight the extensive involvement by larva migrans.