Population genetic study of diabetes and diabetic retinopathy among Egyptians.

OBJECTIVES: To clarify the population genetic background of diabetes mellitus among Egyptians and its effect on developing diabetic retinopathy (DR). BACKGROUND: Genes play an important role in the development of diabetes mellitus. METHODS: A statistical study was carried on 214 patients with diabetes mellitus after clinical genetic evaluation including medical and family history, family pedigree analysis, and determination of blood sugar, cholesterol and triglycerides levels. Ophthalmic examination was done to detect diabetic retinopathy. RESULTS: Family history of diabetes was higher in type I while parental consanguinity was higher in type II. Type I diabetics had positive familial aggregation with sharp falling in frequency of affection from the first to the second to the third degree relatives. Type II diabetes is generally a disease of multifactorial inheritance and AD inheritance in part of pedigrees; however AR inheritance could not be excluded. Family history of DR was higher among diabetic patients with DR than in patients without retinopathy (p < 0.05). Female gender, type I diabetes, duration of diabetes, triglycerides and positive family history of diabetic retinopathy were predictive risk factors for DR. CONCLUSION: Genetic factors play an important role in various forms of DM, however the inheritance is complex. Although most cases of DM are multifactorial disorders, monogenic forms have been also identified. Family history is an important risk factor for the development of DR. Molecular studies are recommended to detect which of the implicated genes are responsible for the development of DR among diabetic Egyptians (Tab. 4, Fig. 1, Ref. 18).

Androgen receptor-CAG repeats in infertile Egyptian men.

This study aimed to assess the androgen receptor (AR) codon amino acids glutamine (CAG) repeats in 185 Egyptian men divided into fertile controls (n = 30), oligoasthenoteratozoospermic (OAT) men (n = 35), nonobstructive azoospermic (NOA) men (n = 120; 18 successful testicular sperm extraction (TESE) and 102 unsuccessful TESE cases). They were subjected to history taking, genital examination, semen analysis, testicular biopsies for NOA cases, serum hormones and CAG repeats by PCR. The mean AR-CAG repeats showed significant difference between NOA group compared with fertile controls or OAT groups. Nonsignificant difference was elicited between OAT group and fertile controls. In NOA cases, CAG repeats demonstrated nonsignificant difference between unsuccessful and successful TESE. AR-CAG repeats elicited significant negative correlation with sperm count, significant positive correlation with sperm normal forms percentage and nonsignificant correlations with sperm motility per cent, tested serum hormones or testicular volume. It is concluded that AR-CAG repeats in Egyptian infertile men are in the range of other international or regional studies. AR-CAG repeats have demonstrated nonsignificant difference regarding TESE outcome in NOA cases.